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The utility of embryofeto-pathology following surgical terminations of pregnancy MacPherson, Robert Tod Lenard 1997

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THE UTILITY OF E M B R Y O F E T O - P A T H O L O G Y FOLLOWING SURGICAL TERMINATIONS OF P R E G N A N C Y by ROBERT TOD L E N A R D M A C P H E R S O N B.Sc., The University of British Columbia, 1992 A THESIS SUBMITTED IN PARTIAL FULFILMENT OF THE REQUIREMENTS FOR THE D E G R E E OF M A S T E R OF SCIENCE in THE F A C U L T Y OF G R A D U A T E STUDIES (Medical Genetics Graduate Programme, Department of Medical Genetics) We accept this thesis as conforming to the required standard THE UNIVERSITY OF BRITISH C O L U M B I A December 1997 ® Robert Tod Lenard MacPherson, 1997 In presenting this thesis in partial fulfilment of the requirements for an advanced degree at the University of British Columbia, I agree that the Library shall make it freely available for reference and study. I further agree that permission for extensive copying of this thesis for scholarly purposes may be granted by the head of my department or by his or her representatives. It is understood that copying or publication of this thesis for financial gain shall not be allowed without my written permission. Department The University of British Columbia Vancouver, Canada DE-6 (2/88) Abstract Embryofeto-pathology examination findings for 521 consecutive pregnancy terminations for fetal abnormalities were compared on the basis of method of termination, results of prenatal cytogenetic investigations, and gestational age at termination. Comparisons were undertaken to ascertain if, as generally assumed, the amenability of the products of conception to embryofeto-pathological examination is less following pregnancy termination by surgical means than following termination by induction. Embryofeto-pathological examination provided a diagnosis that could be used for genetic counseling 42.2 (95% C.I. = 5.45 - 327.04) times more often following termination by induction, as compared to termination by surgical procedures. Pregnancy termination was performed by surgical procedure 2.17 (95% C.I. = 1.39- 3.39; P = 0.0006) times more often when the fetus was identified prenatally to be karyotypically abnormal and 0.72 (95% C.I. = 0.66 - 0.78; P < 0.0001) times less often with each one week increase in the estimated gestational age at termination between 10 and 24 weeks. Among terminated pregnancies with specific ultrasound diagnosed fetal abnormalities, the ability to evaluate ultrasound-identified fetal abdominal wall defects was 30.60 (95% C.I. = 1.63 - 575.84; P = 0.00107) and cystic hygroma was 146.18 (95% C.I. = 7.97 - 2680.93; P < 0.00001) times less likely at autopsy following surgical termination procedures as compared to terminations by induction. The ability to evaluate ultrasound identified fetal anencephaly 8.91 (95% C.I. = 0.39 - 202.07; P = 0.15), cystic kidney disease (odds ratio N/A, P = N/A), diaphragm defects 19.00 (95% C.I. = 0.83 - 434.47; P = 0.03), fetal hydrops 9.00 (95% C.I. = 0.45 - 178.12; P = 0.13), and structural heart defects 21.00 (95% C.I. = 1.08 - 409.15; P=0.01) times less likely following surgical termination procedures as compared to terminations by induction. As multiple tests were performed on the data, a critical P value of 0.00385 was used to test for significance. The trend in each case was for surgical termination to be informative less frequently than medical termination. Among pregnancies terminated with any prenatally diagnosed fetal abnormality, the ability to evaluate the CNS tissue was 36.20 (95% C.I. = 21.77 - 60.19; p<0.00001), heart was 16.76 (95% C.I. = 5.18 - 54.24; pO.OOOOl) and kidneys was 5.04 (95% C.I. = 1.74 - 14.61; p=0.0005) times less likely at autopsy following surgical pregnancy termination procedures, as compared to termination by induction. The ability to evaluate the CNS tissue, heart and kidneys at autopsy following surgical termination procedures were found to be 1.26 (95% C.I. = 1.1 - 1.44; P = 0.0008), 1.19 (95% C.I. = 1.07 - 1.32; P = 0.0012) and 1.35 (95% C.I. = 1.15 - 1. 58; P = 0.0001) times, respectively, more likely for each one week increase in the estimated gestational age at termination. The results of these comparisons confirm that the amenability of the products of conception to embryofeto-pathological examination is reduced following surgical termination procedures, as compared to medical termination procedures. This may have important clinical implications for women considering pregnancy termination following ultrasound diagnosis of fetal abnormalities. V Table of Contents Page Abstract i i Table of Contents v List of Tables x List of Figures xi Acknowledgments xii Chapter 1 Introduction 1 1.1 Overview of Prenatal Diagnosis 1 1.1.1 Accuracy Measures of Prenatal Diagnosis 2 1.2 Maternal Serum Triple Screening 2 1.3 Cytogenetic Investigations 4 1.3.1 Chorionic Villus Sampling 5 1.3.2 Amniocentesis 6 1.3.3 Cordocentesis 8 1.4 Overview of Ultrasonography 9 1.4.1 Accuracy of Ultrasonography 13 1.4.2 Ultrasound Markers of Aneuploidy 15 1.4.3 Ultrasound Detection of Anencephaly 18 1.4.4 Ultrasound Detection of Abdominal Wall Defects 18 1.4.5 Ultrasound Detection of Congenital Heart Defects 20 1.4.6 Ultrasound Detection of Cystic Hygroma 21 1.4.7 Ultrasound Detection of Cystic Kidneys 22 vi 1.4.8 Ultrasound Detection of Diaphragmatic Defects 23 1.4.9 Ultrasound Detection of Fetal Hydrops 24 1.5 Overview of Pregnancy Termination 25 1.5.1 Overview of Medical Termination Procedures 26 1.5.1.1 Advantages and Disadvantages of Medical Terminations 26 1.5.2 Overview of Surgical Termination Procedures 27 1.5.2.1 Dilatation of the Cervix 27 1.5.2.2 Disruption of the Fetus 29 1.5.2.3 Advantages and Disadvantages of Surgical Terminations 29 1.6 Overview of Fetal Pathology 30 1.6.1 Overview of the Autopsy Examination 30 1.6.2 Overview of Congenital Abnormalities 31 1.6.2.1 Classification of Fetal Abnormalities 31 1.6.3 Etiology of Fetal Abnormalities 32 1.7 Overview of Genetic Counseling 33 1.7.1 Recurrence Risks 34 1.8 Aims of the Study 3 5 Chapter 2 Methods and Subjects 38 2.1 Ascertainment of Subjects 38 2.2 Sources of Data 39 2.2.1 Maternal Information 39 v i i 2.2.2 Ultrasound Information 39 2.2.3 Autopsy Information 40 2.2.4 Cytogenetics Information 40 2.3 Database Construction 41 2.4 Data Coding 41 2.5 Analysis 42 2.5.1 Ability to Make a Final Diagnosis at Autopsy 42 2.5.2 Method of Pregnancy Termination 43 2.5.3 Tissues Examined at Autopsy 44 2.5.4 CNS, Heart and Kidneys Evaluated at Autopsy 47 2.6 Statistical Analysis 48 2.6.1 Chi Square Test 48 2.6.2 Fisher's Exact Test 50 2.6.3 Multiple Logistic Regression 51 2.6.3.1 Evaluation of Multiple Logistic Regression 54 2.6.4 Odds Ratios 56 2.6.5 Significance Levels 57 2.7 Ethical Review 58 Chapter 3 Results 60 3.1 Sample Analyzed 60 3.2 Sample for Method of Termination Analysis 60 3.3 Diagnosis Based on Autopsy Analysis 62 viii 3.4 Specific Tissue Examined At Autopsy Analysis 63 3.5 Evaluation of CNS, Heart, Kidney at Autopsy Analysis 68 3.6 Results of the Strength of Relationships Analysis 71 Chapter 4 Discussion 77 4.1 Population of Cases 77 4.2 Diagnosis Based on Autopsy Findings 79 4.3 Method of Termination 82 4.4 Specific Fetal Tissues Evaluated at Autopsy 87 4.5 CNS, Heart, and Kidneys Evaluated at Autopsy 94 Chapter 5 Conclusion 99 Reference 102 Appendix I 111 Appendix II 112 Appendix III 147 Appendix IV 196 Appendix V 204 Appendix VI 205 ix List of Tables From Chapter 1 - Introduction Table 1.1 Ultrasound Markers of Trisomy 21 17 Table 1.2 Ultrasound Markers of Trisomy 13 17 Table 1.3 Ultrasound Markers of Trisomy 18 17 Table 1.4 Markers of Chromosomal Aneuploidy 17 Table 1.5 Disorders Associated With Nonimmune Hydrops Fetalis 24 Table 1.6 Recommendations For Cervical Dilatation 28 From Chapter 2 - Methods and Subjects Table 2.1 Case Subgroups Used in Analysis 45 Table 2.2 Sample 2 X 2 Contingency Table 48 Table 2.3 Response Variables Used in Logistic Regression 53 From Chapter 3 - Results Table 3.1 Results of Cytogenetic Investigations 61 Table 3.2 Distribution of Method of Termination By Prenatal Cytogenetic Results 62 ' Table 3.3 Distribution of Cases With Diagnosis Based on Autopsy Findings 63 Table 3.4 Distribution of the Cases Terminated with Specific Ultrasound-Identified or -Suspected Fetal Abnormalities 65 Table 3.5 Distribution of Surgically Terminated Cases with Specific Ultrasound-Identified or -Suspected Fetal Abnormalities By The Results of Prenatal Cytogenetic Investigations 67 X Table 3.6 Distribution of Surgically Terminated Cases with Specific Ultrasound-Identified or -Suspected Fetal Abnormalities By The Estimated Gestational Age at Termination 68 Table 3.7 Distribution of Cases with CNS Tissue, Heart, and Kidney Exam At Autopsy By The Method of Termination 70 Table 3.8 Distribution of Surgically Terminated Cases with CNS Tissue, Heart, or Kidney Exam at Autopsy By The Prenatal Cytogenetic Results 71 Table 3.9 Results of Multiple Logistic Regression Analysis - Part A 73 Table 3.10 Results of Multiple Logistic Regression Analysis - Part B 76 List of Figures Figure 2.1 Relationships Analyzed in Logistic Regression 53 Figure 3.1 Distribution of Method of Termination By Estimated Gestational Age at Termination 62 Figure 3.2 Distribution of Surgically Terminated Cases Against the Estimated Gestational Age at Termination 72 Acknowledgments I would like to thank my supervisor, Dr. B. McGillivray, without whose guidance and continuous encouragement this project would not have been possible. I would also like to express my gratitude to the members of my thesis committee, Dr. J . M . Friedman, Dr. R.D. Wilson, and Dr. M . Harris, for their counsel and support throughout the duration of my master's project. Useful discussions with Dr. D. McFadden, were greatly appreciated. My sincere thanks are also extended to the staff at the Provincial Medical Genetics Programme, for their patience and support for the past year. I am grateful to all my friends and family for their interest in my research and their confidence in my abilities. 1 1 Introduction "Felix qui potuit rerum cognoscere causas." Lucky is he who could understand the causes of things. Prenatal diagnosis, embryofeto-pathology, and genetic counseling are health care services available to meet the reproductive needs of families. The ability to detect fetal abnormalities in the prenatal period through the use of ultrasonographic, biochemical, molecular, and cytogenetic investigations presents families with a number of choices: to continue the pregnancy without further investigations; to undergo further invasive diagnostic investigations; to undergo invasive interventions; and to terminate the pregnancy. Such decisions are often made under uncertainty - without the benefit of complete or unambiguous information pertaining to fetal abnormalities. Future reproductive planning and genetic counseling following the outcome of an abnormal pregnancy are based on an understanding of the etiology of fetal abnormalities, achieved through antenatal and postnatal investigations. 1.1 Overview of Prenatal Diagnosis A severe fetal abnormality or chromosomal anomaly in a fetus/neonate may be a tragedy for the parents and is costly to society as a whole. The prevalence of chromosomal anomalies and severe structural malformations apparent at birth are 0.2% and 2.7%, respectively (Baird et al., 1988). As most parents are not known to be at increased risk, it is usually not possible to predict which neonates will be born with abnormalities. The detection of 2 fetal abnormalities at a stage of pregnancy which gives parents the opportunity to chose between continuing wi th the affected pregnancy or terminating the pregnancy is an important aspect of obstetrical care. 1.1.1 Accuracy Measures of Prenatal Diagnosis Safety and accuracy are two critical factors which determine the value of prenatal diagnosis. Ideally, prenatal diagnostic procedures should be safe for both the mother and the fetus. Prenatal diagnostic procedures should also be highly accurate as they form the basis of decisions to continue or to terminate pregnancies. Several measures may be used in describing the accuracy of prenatal diagnosis. Sensitivity is a measure of the proportion of affected fetuses that are found to be abnormal by prenatal diagnostic procedures. Specificity is a measure of the proportion of normal fetuses that are found to be normal by prenatal diagnostic procedures. Positive predictive value is a measure of the proportion of fetuses wi th abnormal prenatal diagnostic screening that really are abnormal. Negative predictive value is a measure of the proportion of fetuses wi th normal prenatal screening that really are normal. 1.2 Maternal Serum Triple Screening Three approaches to screening for fetal abnormalities i n the fetus during the first or second trimester are commonly practiced. Materna l serum screening programmes for biochemical markers indicative of increased risk of fetal structural malformations and chromosomal abnormalities have been 3 developed. This means of surveillance is safe for both the mother and fetus. At present, triple marker screening refers to the measurement of three proteins in maternal serum: a-fetoprotein (AFP), a glycoprotein produced by the yolk sac and fetal liver; human chorionic gonadotrophin (hCG), a glycoprotein hormone produced by the placenta; and unconjugated estriol (UE3), a steroid hormone produced by the placenta. Each of these proteins has been identified to be an independent marker of chromosomally abnormal pregnancies. Low levels of AFP (DiMaio et al., 1987) and UE3 (Wald et al., 1988), as well as high levels of hCG (Bogart et al., 1987), are associated with fetal Down syndrome, whereas high levels of AFP are associated with open neural tube defects and with other structural fetal malformations such as renal abnormalities, abdominal wall defects, and duodenal or esophageal atresia (Brock et al., 1972; Thomas and Blakemore, 1990). Utilization of an algorithm which considers maternal age, weight and race; an accurate estimation of gestational age by last menstrual period or ultrasound parameters; and concentrations of the markers provide an estimate of the risk of chromosomal aneuploidy and neural tube defects (Phillips et al., 1992). Results of triple screening are reported as multiples of the median (MoM) for each gestational age. Threshold values for MoM of these markers is a reflection of the sensitivity and specificity of the screening test. Threshold values are set so as to identify a large proportion of abnormal fetuses (true positives) and to minimize the number of women identified with abnormal screening values and normal fetuses (false positives). A physiological explanation for alterations of the concentrations of the marker proteins in abnormal pregnancies is not known but may be related to aberrant placental, fetal liver or fetal adrenal gland function (Coulson, et al., 1996). A positive triple screen for Down syndrome or an open neural tube defect is an indication for ultrasound screening which may detect other causes of altered marker protein levels including errors in gestational dating, multiple gestations, or missed abortions. Women should be informed that triple screening is not a diagnostic test, but provides only an estimate of risk for fetal abnormalities. Women with a positive triple screen result confirmed by ultrasound dating should be offered amniocentesis for definitive fetal karyotyping or detailed ultrasound for fetal structural abnormalities. 1.3 Cytogenetic Investigations Cytogenetic, biochemical, and molecular genetic investigations may be performed on cells obtained from chorionic villus sampling (CVS), amniocentesis, and fetal blood sampling. Common indications for performance of the above invasive procedures include maternal age of 35 years or above at term, previous live or stillborn infant with chromosomal abnormality, abnormal triple screening results with increased risk of chromosomal abnormalities, or a fetal abnormality detected by prenatal ultrasonography which has an increased risk of chromosomal, biochemical or 5 molecular fetal abnormalities. Cytogenetic analysis involves several steps including obtaining cells for analysis, culturing cells, and banding chromosomes for karyotyping. While not 100% accurate, the accuracy of CVS has been reported to be 99.6% (Ledbetter, et al., 1990) and the accuracies of early amniocentesis and midtrimester amniocentesis have been reported to be 97.6% and 99.7%, respectively (Johnson, et al., 1996). In most circumstances, cytogenetic analysis is able to yield unequivocal results of karyotypic normality or abnormality such as for aneuploidy or large structural rearrangements. Smaller structural rearrangements or deletions may not be identified. 1.3.1 Chorionic Villus Sampling Chorionic villus sampling is a first trimester procedure for obtaining cells for cytogenetic, biochemical, or molecular analysis. Chorionic villi are finger-like projections surrounding the embryonic sac at an early gestational age. These extraembryonic cells are derived from the fertilized oocyte; thus sampling of the chorionic villi is suitable for evaluating the chromosome complement of the fetus. CVS is best performed between 10 and 12 weeks of gestation, enabling results to be available at an early gestational age. This permits options such as therapeutic abortion in the event that a fetal abnormality is detected. Historically, CVS was first attempted by Hahnemann and Mohr in 1968 using an endoscope in a transcervical approach to sample the chorion. Today, two approaches to CVS are 6 commonly practiced - ultrasound guided transcervical and transabdominal procedures. The pregnancy loss rate (spontaneous losses and induced abortions) following CVS has been found to be 0.6% higher (although not significantly different) than the pregnancy loss rate following amniocentesis, 7.6% vs. 7.0% respectively in a randomized study design (Canadian Collaborative..., 1989). Tissue obtained from CVS procedures may be subjected to direct (1 day of culture), short-term (4 days of culture) and long-term culture ( about 9 days of culture) techniques (Smith, 1995). The chorionic villus is composed of two layers, the mesenchymal core and the outer cytotrophoblast. The cytotrophoblast derived cells will yield mitoses for karyotyping by both direct and short-term culture, while long-term culture is required to produce mitoses from mesenchymal core cells. One biological confounder for CVS is confined placental mosaicism, defined as a discordance between the chromosomal complement of the placenta and the embryo/fetus. It has been identified by CVS in 1% to 2% of viable pregnancies (Ledbetter, et al., 1991; Wang, et al., 1994). Follow-up by amniocentesis is usually performed following the identification by CVS of mosaic aneuploidies (E.g. trisomies 13, 16, 18, 21, and 22). 1.3.2 Amniocentesis Amniocentesis involves the extraction of fluid from the amniotic sac. Amniotic fluid contains fetal cells (amniocytes) that are derived from fetal 7 skin, amnion, and the gastrointestinal, urinary and respiratory tracts. In the mid 1960's it was recognized that the fetal cells obtained from amniotic fluid were suitable for cytogenetic evaluation (Steele and Berg, 1966). The procedure, which involves the insertion of a needle into the amniotic sac, was originally performed after palpation to determine the position of the fetus and auscultation to determine the position of the placenta. Today, needle insertion is generally performed under ultrasound guidance, thus enabling the identification of pockets of amniotic fluid suitable for sampling and the avoidance of fetal injury. The amniotic fluid sample may be subjected to a variety of investigations other than cytogenetic analysis, including molecular DNA analysis, immunological studies and biochemical assays. Amniocentesis is traditionally performed between 15 and 18 weeks of gestation, although the feasibility of early amniocentesis at 11 to 15 weeks of gestation is currently under investigation in a number of centers (Nicolaides, et al., 1994; Brumfield, et al., 1996; Wilson, et al., 1996). The primary safety concern regarding amniocentesis is the risk of pregnancy loss and fetal abnormalities. Occasionally, other complications, such as infection causing amnionitis or leakage of amniotic fluid, may occur. The amniocentesis procedure-related pregnancy loss rate is thought to be approximately 0.5%. As a consequence of the procedure related pregnancy loss rate, amniocentesis is usually offered to women aged 35 or above at parturition, or to women with other indications as mentioned above. At a maternal age of 35 or above at 8 parturition, the risk of procedure related pregnancy loss and the overall risk of any chromosomal abnormality are approximately equal. 1.3.3 Cordocentesis Cordocentesis, also known as percutaneous umbilical blood sampling (PUBS), is a procedure in which blood is sampled directly from the fetal umbilical cord. Cordocentesis was first described in 1982 by Bang and associates. The procedure involves insertion of a needle, under ultrasound guidance, into an umbilical vessel and the drawing out of a sample of blood. Ultrasound guidance allows the needle to be visualized as it passes through the abdomen and uterus and to be directed to the insertion site, which may be at the umbilical insertion site of the placenta, in free loops of umbilical cord or in the fetal hepatic vein. Confirmation of the fetal origin of the blood sample may be performed by Kleihauer-Betke tests or by measuring red blood cell indices. Investigations performed on cordocentesis blood samples include rapid cytogenetic analysis, diagnosis of fetal infections, biochemical investigations, appraisal of fetal hydrops, metabolic investigations and blood gas status. Cytogenetic analysis on cultured lymphocytes from fetal blood may be performed in 48 to 72 hours. Assessment and treatment (by intravascular transfusion) of fetal rhesus haemolytic disease are also made possible by cordocentesis. 9 Cordocentesis carries a high risk for procedure-related loss, especially in the growth retarded fetus. Consequently, its use is usually limited to pregnancies that have been found by other investigations to be at high risk. Cordocentesis is usually performed following 18 weeks of gestation; however, earlier cordocentesis (from 12 weeks of gestation on) has been reported (Orlandi, et al., 1990). Early gestational age at the time of the procedure is associated with an increased rate of pregnancy loss. At gestational ages of 12 to 14, 15 to 16 and 17 to 18 weeks, fetal losses were found to be 4.8%, 5.7% and 5.2%, respectively (Orlandi, et al., 1990). Procedures performed on fetuses with known anomalies or growth retardation have been found to have an increased risk of procedure related pregnancy loss compared with procedures performed on fetuses with normal anatomy, 7% and 1% respectively (Maxwell, et al., 1991; Wilson, et al., 1994). Longer procedure time and unfavorable position of the placenta have also been reported with an increased risk of procedure related pregnancy loss (Orlandi, et al., 1990). From a retrospective review of 214 cordocenteses at B.C.'s Women's Hospital, the cordocentesis procedure related loss rate was observed to be 2.75% (Wilson, et al., 1994). 1.4 Overview of Ultrasonography Prenatal ultrasonagraphy, once thought useful primarily for the determination of gestational age and the identification of multiple gestations and fetal positioning, now plays many roles in prenatal diagnosis. Firstly, 10 ultrasonography can be used to assess the fetus for major structural abnormalities, as well as for subtle markers of chromosomal abnormalities. Secondly, invasive prenatal diagnostic procedures have been made safer under ultrasound guidance. In 1959, using modified metal flaw detecting equipment, Ian Donald first applied ultrasound technology to the assessment of the fetus. The first report of a fetal abnormality identified by ultrasonography was made in 1972 by Campbell who identified a fetus with anencephaly. Since that time, ultrasonography has become the primary screening procedure and diagnostic test in obstetrical care. The equipment used in ultrasonography consists of three elements: the transducer, the computer, and recording devices. The transducer permits transmission and reception of high frequency sound waves (ultrasound). The transducer relies on the piezoelectric effect in which silicon crystals in the transducer, when exposed to electrical impulses, microscopically deform and subsequently emit high frequency sound waves. Reflected sound waves also cause deformations in the crystals; the deformations are then transformed into electrical impulses. The ultrasound machine's computer converts the reflection induced electrical impulses from the transducer into visual images. The conversion employs time differences between reflected sound waves caused by the variable speed of sound transmission through tissues with distinct acoustic impedances. Greater resolution is achieved using high frequency sound 11 waves (5 MHz and higher), whereas, the greatest penetration of tissues is achieved by using lower frequency sound waves (3.5 MHz and lower) (Ellwood, 1995). A variety of recording devices can be utilized to store information about the ultrasound examination. Common indications for ultrasound examinations include estimation of gestational age, evaluation of fetal growth, determination of fetal positioning, identification of multiple pregnancies, evaluation of amniotic fluid volume, assessment of the umbilical cord and placental position, and detection and assessment of fetal developmental abnormalities. An ultrasound examination for detailed fetal assessment should include an assessment of the cerebral ventricles, cerebellum, spine, heart, stomach, urinary bladder, renal structures, extremities and umbilical cord insertion site on the abdominal wall (Garmel and D'Alton, 1994). The interpretation of the images produced during an ultrasound examination is dependent on the skill of the sonologist (medical practitioner) and sonographer (technical personnel). A high level of expertise is required for the examiner to envision three dimensional impressions of two dimensional images. Several reversible interactions are present when ultrasound enters the body, including particle displacement, increase in temperature, and change in tissue density (DuBose, 1996). These interactions are transient and cease when ultrasound is removed. The interactions are caused by ultrasound induced force effects, thermal effects and cavitation (the generation and 12 stability of bubbles). A detailed description of these effects is beyond the scope of this thesis. Extensive studies on the safety of prenatal ultrasonography have focused on the areas of structural fetal abnormalities, low birth weight, abnormal neurological development, speech delay, hearing impairment, pediatric cancer, and left-handedness (Salvesen, and Eik-Nes, 1996). No studies have ever confirmed harm to the fetus due to exposure to diagnostic ultrasound examination. The American Institute of Ultrasound in Medicine has concluded that "no confirmed biologic effects on patients or instrument operators caused by exposure to intensities typical of present diagnostic ultrasound instruments have ever been reported. Although the possibility exists that such biologic effects may be identified in the future, current data indicate that the benefits to patients of prudent use of diagnostic ultrasound outweigh the risks, if any, that may be present." (AIUM, 1988). The most significant risk of ultrasound examination is not biological but is the risk of false positive diagnosis. The incorrect diagnosis of a fetal abnormality when none is present may potentially lead to maternal anxiety or even to termination of pregnancy. Alternatively, the failure to detect fetal abnormalities may offer false assurances to women regarding the health of the fetus. 13 1.4.1 Accuracy of Ultrasonography A number of studies have been performed to assess the accuracy of ultrasound examinations in detecting fetal abnormalities. Comparison of results is hindered by differences in experimental design and in the populations being studied. Gonclaves and associates (1994) have reported ultrasound sensitivities to be 89% in detecting lethal abnormalities; 77% in detecting abnormalities requiring neonatal care and 30% in detecting abnormalities that were nonlethal or not requiring neonatal care. Congenital heart defects, microcephaly, abnormalities of the face, extremities and external genitalia have been found to have low ultrasound sensitivities (Cheschier, et al., 1994; Gonclaves, et al., 1994). In the Gonclaves study, several biases are present. Firstly, the study population was composed mostly (206 out of 287) of women with pregnancies at high risk due to a prior abnormal ultrasound examination, abnormal family history or obstetrical complication. Secondly, the population was limited to women who had scans at 16 weeks of gestation and after. Thirdly, as the study was hospital based, women who may have had ultrasound false negative diagnoses but delivered elsewhere were likely missed. Finally, the study does not indicate the method of pregnancy termination for those fetuses identified through autopsy reports. The Cheschier study was also biased as it limited its population of cases to pregnancies terminated with medical procedures (i.e. prostaglandin induction of labour). It is presumed that following surgical termination 14 procedures (i.e. dilatation and evacuation or dilatation and curettage), the likelihood of ascertaining all the malformations in a fetus at autopsy is greatly reduced. Overall, these biases serve to inflate the measures of sensitivity for ultrasound diagnosis of fetal malformations in the two studies. Ultrasound false-negative diagnosis recognized at fetal autopsy may provide important information that can affect the diagnosis of a syndrome, identification of the etiology or pathogenesis of the abnormality, and determination of the severity of the abnormality. Without a full autopsy examination following pregnancy termination, the final diagnosis of the fetal malformation may be indeterminate or equivocal. Alterations in the final diagnosis of fetal malformations due to ultrasound false negative and false positive diagnoses has been reported to occur in 54% (36/67), 46% (28/61), and 53% (35/66) of medically terminated pregnancies examined in three studies which compared ultrasound derived diagnoses with autopsy derived diagnoses (Weston, et al., 1993; Shen-Schwarz, et al., 1989; and Julian-Reynier, et al., 1994, respectively). For example, Julian-Reynier and associates (1994) reported a case in which a pregnancy was terminated due to ultrasound identified exomphalos. Upon autopsy examination, in addition to exomphalos, the fetus was found to have a ventricular septal defect, and diaphragmatic aplasia, a phenotype that lead to a final diagnosis of Fryn syndrome. These studies are biased by their inclusion of only pregnancies terminated with a medical procedure, thus yielding an intact fetus for 15 autopsy examination. Again, it is presumed that following surgical termination procedures, the likelihood of the autopsy identification of fetal malformations that were not seen by ultrasound examination is greatly reduced. These findings emphasize the importance of fetal autopsy in determining an unequivocal final diagnosis and hence recurrence risks following the termination of pregnancy due to ultrasound identified fetal malformations. Several factors have been identified that influence the sensitivity of ultrasound examinations. Early gestational age (less than 18 weeks) at the time of examination, oligohydramnios, maternal body habitus, multiple pregnancy, fetal position, late presentation or development of some abnormalities, abnormalities that may not be detectable by ultrasound examination, fetal death and the presence of multiple anomalies have been reported to decrease the accuracy of ultrasound examinations (Chitty, et al., 1991; Levi, et al., 1995; Manchester, et al., 1988; Shen-Schwarz, et al., 1989; Weston, et al., 1993). These intrinsic limitations of ultrasonography underline the importance of fetal autopsy in the confirmation of prenatal diagnoses and in the identification of abnormalities not apparent on ultrasound examination. 1.4.2 Ultrasound Markers of Aneuploidy Chromosome aneuploidies may lead to a wide variety of phenotypic abnormalities that can be detected by ultrasonography. Fetal growth 16 retardation, major and minor structural malformations and amniotic fluid abnormalities may be identified by ultrasound examination. As a screening test, ultrasound examination may identify pregnancies not otherwise thought to be at risk of chromosomal abnormalities, indicating further invasive diagnostic investigations. The incidence of chromosomal abnormalities has been found to be more likely when multiple fetal abnormalities are identified (30%) than when isolated abnormalities are identified (17%) (Wilson, et al., 1992). The proportion of ultrasound identified fetal abnormalities with a chromosomal etiology was found to be independent of the gestational age at ultrasound examination (Rizzo, et al., 1996). In fetuses with structural abnormalities seen on ultrasound examination, the prevalence of chromosomal abnormalities in the second and third trimesters was found to be 15.7% and 17.5%, respectively. This difference was not statistically significant. A counterbalance between spontaneous abortion due to selection of chromosomally abnormal fetuses and the lower accuracy of ultrasonography at early gestational age most likely explains the result. Ultrasound detectable markers of chromosomally abnormal fetuses are listed in tables 1.1 through 1.4. Further studies are needed to establish the correlation between gestational age and the relative risk of chromosome abnormalities with specific ultrasound diagnosed fetal abnormalities. 17 Table 1.1 Ultrasound Markers of Trisomy 21 Feature Reference Short Femur and Humerus Nyberg, et al., 1990 Congenital Heart Defects Nicholaides, et al., 1992 Nuchal Skin Thickening Crane, & Gray, 1991 Hydronephrosis Hanna, et al., 1996 Duodenal Atresia Hanna, et al., 1996 Polyhydramnios Hanna, et al., 1996 Omphalocele Van Zalen-Sprock, et al., 1991 Encephalocele Van Zalen-Sprock, et al., 1991 Table 1.2 Ultrasound Markers of Trisomy 13# Feature Feature Cleft Lip and/or Palate Polyhydramnios Omphalocele Hand and Feet Abnormalities Holop rose ncep haly Single Umbilical Artery Congenital Heart Disease Urinary Tract Abnormalities # Nicholaides, et al., 1992a Table 1.3 Ultrasound Markers of Trisomy 18* Feature Feature IUGR Urinary Tract Abnormalities Congenital Heart Disease Diaphragmatic Hernia Omphalocele Facial Clefting Encephalocele Single Umbilical Artery Open Neural Tube Defects Clenched Hands (overlapping fingers) Talipes *Nyberg, et al . , 1993 Table 1.4 Some Ultrasound Markers of Chromosomal Aneuploidy Feature Overall Risk Reference of Aneuploidy CNS Abnormalities 19% Eydoux, et al., 1989 Congenital Heart Defects 36% Eydoux, et al., 1989 Omphalocele 26% Eydoux, et al., 1989 Skeletal Abnormalities (Isolated) 1% Eydoux, et al., 1989 Skeletal Abn. (Not Isolated) 37% Eydoux, et a l , 1989 Renal Abnormalities 5 - 9% Wilson, et al., 1988 Cystic Hygroma (with Hydrops) 100% Brumfield, et al., 1991 Cystic Hygroma (No Hydrops) 25% Brumfield, et al., 1991 Facial Abn (Isolated) < 1% Eydoux, et al., 1989 Facial Abn (Not Isolated 27% Eydoux, et al., 1989 Gastrointestinal 21% Eydoux, et al., 1989 A b n = Abnorma l i ty 18 1.4.3 Ultrasound Detection of Anencephaly Anencephaly is characterized by the complete or partial absence of the cranial vault and cerebral hemispheres. The defect is due to failure of the anterior neuropore to close at 28 days of development (Van Allen, et al., 1993). The inheritance pattern of anencephaly is thought to be multifactorial, although anencephaly has also been found to be associated with amniotic bands, chromosome abnormalities and exposure to certain teratogens (e.g., folic acid antagonists, valproic acid, maternal diabetes) (Campbell, et al., 1986). Abnormalities found in association with anencephaly include spina bifida, facial clefting, omphalocele, diaphragmatic hernia, hydronephrosis, and congenital heart defects (Melnick and Myrianthopoulos, 1987). Anencephaly is detectable by ultrasound examination from 11 weeks of gestation. The brain will have an abnormal appearance because the skull is absent. The exposed brain tissue will gradually disintegrate due to exposure to amniotic fluid, with complete elimination of cerebral tissue occurring by 17 weeks of gestation (Sanders, 1996). The accuracy of ultrasound identification of anencephaly has been found to be high with sensitivity approaching 100% (Gonclaves, et al., 1994). 1.4.4 Ultrasound Detection of Abdominal Wall Defects Gastroschisis and omphalocele are the two main forms of abdominal wall defects that can be identified by ultrasonography. Gastroschisis is 19 characterized by the evisceration of the abdominal viscera through a defect i n the anterior abdominal wal l . The abnormality is thought to occur i n most cases due to a vascular defect of the right omphalomesenteric artery causing necrosis i n the region at the base of the umbil ical cord (Hoyme, et al., 1991). Gastroschisis is usually a sporadic event which occurs predominantly i n young women, although rare cases of familial inheritance have been reported (Yang, et al., 1992). Gastroschisis is detectable by ultrasonography from 13 weeks of gestation (Langer, et al., 1993). The bowel can be seen to be herniated through the anterior abdominal wa l l wi th a normal umbil ical cord insertion site. The bladder and stomach may also be involved. The accuracy of ultrasound identification of gastroschisis has been found to be high wi th sensitivity reaching 92 - 100% (Gonclaves, et al., 1994; and Levi , et al., 1995). Omphalocele is characterized by the herniation of the abdominal viscera into an amniotic membrane sac attached to the umbil ical r ing. The defect is thought to be due to failure of lateral body-fold migration and body-wal l closure (Kalousek and Lau , 1992). While most cases of omphalocele are sporadic, the condition is often associated wi th chromosomal abnormalities, such as trisomies 13 and 18, and rarely wi th autosomal or X-l inked inheritance (Nicholaides, et al., 1992b). In fetuses wi th omphalocele, 50% have additional abnormalities, including neural tube defects, congenital heart defects, diaphragmatic hernias, imperforate anus, and bladder exstrophy (Nicholaides, et al, 1992b). Omphalocele can be detected by ultrasonography from 13 weeks of gestation (Sanders, 1996). The abdominal viscera are seen to be herniated into a membrane covered sac at the site of umbil ical insertion by ultrasonography. The accuracy of ultrasound detection of omphalocele is high, wi th sensitivity reported to be 92 - 100% (Levi, et al., 1995). 1.4.5 Ultrasound Detection of Congenital Heart Defects Congenital heart defects encompass a wide range of structural and functional abnormalities. A complete description of congenital heart defects and their detection by ultrasonography is beyond the scope of this thesis. Drose and Cyr (1996) describe the components of an ultrasound examination of the fetal heart. A four chamber view of the heart can be obtained by scanning transversely through the fetal chest. The four chamber view of the heart enables assessment of both atria and both ventricles, as wel l as the tricuspid and mi t ra l valves. Long axis views of the heart can be used to assess the ascending aorta, the interventricular septum, the aortic valve, the pulmonary artery and the right ventricular outflow tract. Short axis view of the heart can be used to evaluate the great vessels, the interventricular septum, and the aortic arch. Pulsed Doppler ultrasonography can be used to evaluate the heart for valvular insufficiency or stenosis, interventricular septum defects, and aortic coarctation. The accuracy of ultrasound detection of congenital heart defects is dependent on the defect and the sk i l l of the observer. The sensitivities of 21 detection of ventricular or atrial septal defects and single ventricle heart have been reported to be 13% and 80%, respectively (Levi, et al., 1995). 1.4.6 U l t r a s o u n d D e t e c t i o n o f C y s t i c H y g r o m a Cystic hygroma is characterized by membrane enclosed fluid collections of the lymphatic system occurring in the nuchal region. Cystic hygroma is thought to be due to delayed development of the connection between the venous system and the jugular lymphatic sacs (Chervenak, et al., 1983). While the majority (75%) of fetuses with cystic hygroma have chromosome abnormalities (Azar, et al., 1991), most commonly Turner syndrome and Down syndrome, cystic hygroma may also occur in many other malformation syndromes, including Noonan syndrome (Witt, et al., 1987), multiple lethal pterygium syndrome (Moerman, et al., 1990), and Brachmann de Lange syndrome (Bruner and Hsia, 1990). Abnormalities associated with cystic hygroma include congenital heart defects, nonimmune fetal hydrops, and renal anomalies (Fisher, et al., 1996). Cystic hygroma appears by ultrasound examination as a fluid filled space that may be septated, emerging from the posterior region of the neck. The accuracy of ultrasound detection of cystic hygroma is high, with sensitivity reported to be 92 - 100% (Levi, et al., 1995). Skin thickening and hydrops may also be visualized by ultrasound exam. 22 1.4.7 Ultrasound Detection of Cystic Kidneys Cystic kidney diseases are a heterogeneous collection of disorders. Cystic and dysplastic changes may be bi- or unilateral and may involve all or part of the kidney. A complete description of the classification and the pathogenesis of cystic kidney diseases is beyond the scope of this thesis. Polycystic kidney disease is characterized by small dilations of the renal collecting tubules, causing symmetric renal enlargement and subsequent renal failure. Multicystic kidney disease is characterized by disorganized glomeruli, tubules, ducts and cysts of the collecting tubules. Cystic kidneys may occur in isolation or may be associated with other congenital abnormalities. Cystic kidneys may occur sporadically, as is the case in multicystic dysplastic kidneys, or they may appear as a feature in a number of syndromes, including chromosome abnormalities, infantile or adult polycystic kidney disease, short-rib Polydactyly syndrome, Meckel-Gruber syndrome, Zellweger syndrome, and Ehlers-Danlos syndrome (Reuss, et al., 1991). Ultrasound detection of multicystic dysplastic kidney disease may be characterized by the visualization of cysts, parenchymal echogenicity, kidney enlargement, compensatory enlargement and hypertrophy of the unaffected kidney if the disorder is unilateral, and oligohydramnios developing at 15 to 18 weeks of gestation if the disorder is bilateral, (Reuss, et al., 1991). Ultrasound detection of polycystic kidney disease is characterized by enlargement and increased parenchymal echogenicity of the kidneys, small 23 bladder, and oligohydramnios developing as early as 15 to 18 weeks of gestation. These findings may mot be seen until the late second trimester (Reuss, et al., 1991). Ultrasound diagnosis of polycystic kidneys, as opposed to multicystic kidneys, is usually contingent upon a family history of polycystic kidney disease. The accuracy of ultrasound detection of cystic kidney disease is high, with sensitivity reported to be 86% (Levi, et al., 1995). 1.4.8 Ultrasound Detection of Diaphragmatic Defects Diaphragmatic defects are characterized by the protrusion of some of the abdominal contents into the chest cavity through a defect in the diaphragm. Posterolateral diaphragm defects are known as foramen of Bochdalek hernias and retrosternal diaphragm defects are known as foramen of Morgagni hernias. Diaphragmatic defects are thought to arise due to aberrant timing of the thoracic migration of the gut from the yolk sac between the 6 t h and 10 t h week of gestation. Most cases of diaphragmatic defects occur sporadically, but they have also been found to be associated with chromosomal abnormalities, such as trisomies 18 and 21, as well as over 30 other malformation syndromes, such as Fryn syndrome and Cornelia de Lange syndrome (Cunniff, et al., 1990). Fetal abnormalities found in association with diaphragmatic defects include congenital heart defects, pulmonary hypoplasia (due to a compression effect), renal abnormalities, facial clefts, and CNS malformations (Cunniff, et al., 1990). 24 The ultrasound findings in fetuses with the more common left-sided diaphragmatic defects include deviation of the heart to the right, displacement of the stomach and small bowel into the chest, and in some cases the displacement of the left lobe of the liver. The ultrasound findings in fetuses with right-sided diaphragmatic defects include the deviation of the heart to the left, presence of liver in the chest, and abnormal alignment of the stomach in the abdomen. The accuracy of ultrasound detection of diaphragmatic defects is high, with sensitivity reported to be 80% (Levi, et al., 1995). 1.4.9 Ultrasound Detection of Fetal Hydrops Hydrops fetalis is characterized by the accumulation of fluid in the serous cavities and by soft tissue edema in the fetus. Hydrops is classified as nonimmune if fetomaternal blood incompatibility is ruled out as the cause. Nonimmune hydrops fetalis may be caused by a variety of fetal, maternal or placental disorders (table 1.5 ). At ultrasound examination, fetal hydrops is characterized by two or more of the following findings pericardial effusions, pleural effusions, fetal ascites, and skin thickening. The accuracy of ultrasound detection of fetal hydrops is high, with a sensitivity reported as 84% (Holzgreve, et al., 1986). 25 Table 1.5 Some Disorders Associated With Nonimmune Hydrops Fetalis Disorder Specific Condition Cardiovascular Congenital heart block Structural defects Cardiomyopathy Chromosomal Trisomy 21 Other trisomies Turner syndrome Triploidy Single Gene Disorders Osteogenesis imperfecta Achondrogenesis Thalassemia Respiratory Diaphragmatic hernia Cystic adenoma of the lung Maternal Severe anemia Severe diabetes mellitus Placenta Fetomaternal transfusion Chorioangioma Infection Cy tome galovirus Toxoplasmosis Rubella Adapted from Holzgreve, Holzgreve, and Curry, (1985) 1.5 Overview of Pregnancy Termination Termination of pregnancy is an option available to families following the identification of fetal malformations or chromosomal abnormalities which may be lethal in nature or incompatible with normal life. The decision to terminate a pregnancy should be made following non-directive genetic counseling, during which all the options available in the pregnancy can be discussed. It has been recognized that couples face psychological sequelae following termination of pregnancy for genetic reasons comparable to the sequelae that occur after neonatal loss (Suslak, et al., 1995; Lloyd, and Laurence, 1985). 26 Pregnancy termination procedures may be divided into two main groups: medical (drug induced labour and delivery) terminations and surgical terminations. 1.5.1 Overview of Medical Termination Procedures Medical terminations make use of prostaglandins or prostaglandin analogues. Prostaglandins and their analogues have their effect on smooth muscle tone causing uterine contractions and expulsion of the products of conception. Prostaglandins may be administered by a variety of means including vaginal suppositories, intra-amniotic injections and oral preparations. Medical termination procedures may be performed at any stage of gestation (Rayburn, and Laferla, 1986). 1.5.1.1 Advantages and Disadvantages of Medical Terminations The major advantages of medical terminations include the delivery of an intact fetus for pathological examination and the potential for the couple to view and hold the fetus, which has been suggested to aid in the grieving of parents (Kenyon, et al., 1988; Suslak, et al., 1995). Disadvantages of medical terminations include the pain and psychological stress of labour and delivery, the potential for protracted labour dependent on the drug choice and dose, retention of the placenta requiring surgical intervention, the possible delivery of a live preterm fetus, and drug side effects (such as vomiting, diarrhea and fever). Contraindications to medical termination include hypersensitivity to prostaglandins or prostaglandin analogues, active pelvic 27 inflammatory disease, placenta praevia, and prior uterine surgery with vertical scarring (Rayburn, and Laferla, 1986). 1.5.2 Overview of Surgical Termination Procedures Surgical termination procedures consist of cervical dilatation and aspiration of the products of conception after they are reduced in size by instrumental physical disruption. Dilatation and curettage (D & C) procedures, performed up to 14 weeks in gestation, involve disruption of the fetus with a sharp curette followed by vacuum aspiration. Dilatation and evacuation (D&E) procedures, performed after 14 weeks of gestation, may involve disruption of the fetus and evacuation of the uterus with forceps. These procedures usually take place under general anesthesia. 1.5.2.1 Dilatation of the Cervix Effective dilatation of the cervix is an essential step in the termination procedure, both for allowing instruments access to the uterus and for removing the products of conception. Cervical dilatation may be achieved by a variety of techniques. Slow and careful serial insertion of dilators with a long and gentle taper may be used for rapid dilatation, but this technique is associated with increased risk of cervical trauma (lacerations and perforations) (Schulz, et al., 1983). Expanding hygroscopic dilators, such as laminaria tents or synthetic dilapan tents, offer a safe and effective means of achieving cervical dilatation. Laminaria tents - slender stems of a cold water seaweed - swell to 3-4 times 28 their dry diameter without lengthening when placed in water. To achieve adequate dilatation, laminaria tents are often inserted in multiple sets over a two day period prior to surgery. Dilapan tents are synthetic hydrophilic dilators which offer the advantages of sterility and expansion at a faster rate than laminaria tents. A positive linear regression of cervical dilatation against increasing gestational age and increasing number of laminaria utilized, has been reported to exist (Munsick, and Fineberg, 1996). In short, the greater number of laminaria tents used in a procedure, the greater the cervical dilatation; the greater the gestational age, the greater the cervical dilatation. No association between parous and nulliparous status and the extent of cervical dilatation has been found to exist (Kline, et al., 1995; Wells, et al., 1989). Munsick and Fineberg (1996) offer recommendations regarding the extent of cervical dilatation according to weeks of gestation (see table 1.6). Table 1.6 Recommendations For Cervical Dilatation Weeks of Gestation Cervical Dilatation 8 to 14 wks 14 to 19 wks > than 19 wks 8 to 14 mm 14 to 21 mm > than 21 mm 29 1.5.2.2 Disruption of the Fetus As the fetus is larger than the extent of cervical dilatation, instrumental disruption to reduce the size of the fetus is required prior to evacuation of the uterus. Following physical disruption and evacuation, the condition of the fetus may be found to range from relatively intact to extremely damaged fetal parts. Damage to the fetus may result in the collapse of the skull with loss of brain tissue, fragmentation of the viscera, separation of the limbs and admixture of fetal fragments with placental fragments. 1.5.2.3 Advantages and Disadvantages of Surgical Terminations Surgical termination procedures have a number of advantages when compared with medical terminations. Surgical termination procedures are reported to have lower rates of morbidity and mortality when compared to medical termination procedures (Kafrissen, et al., 1984). Additionally, surgical termination procedures have been reported to take less time and are less painful than medical procedures (Kaltreider, et al., 1979). Finally, surgical terminations do not require extended hospitalization and thus are less expensive than medical terminations (Crist, et al., 1983). The main disadvantage of surgical termination procedures is that an ideal autopsy examination is precluded as a result of physical disruption of the fetus. 30 1.6 Overview of Fetal Pathology Genetic counseling and future reproductive planning are contingent upon the accurate diagnosis of fetal abnormalities and inherited diseases. Careful examination of the aborted fetus at autopsy provides geneticists and counselors with information upon which assessments of recurrence risks are made. Furthermore, fetal autopsy examination may serve as an auditing mechanism for ultrasonographers, confirming their findings and identifying false positive and false negative findings. Confirmation of the actual fetal abnormalities may also ease the psychological sequelae of couples following termination of pregnancy (White-Van Mourick, et al., 1992) and eliminate the incertitude present within the couple's decision-making process (Drugan, et al., 1990). 1.6.1 Overview of the Autopsy Examination The purpose of embryofeto- pathology examination is to evaluate the fetus in terms of developmental anomalies or other findings that have led to abnormal prenatal investigations or death. Kalousek et al. (1992) describe autopsy examinations as including photographic documentation, radiology, external and internal examination for morphological defects, cytogenetic analysis, histological investigations, placental examination, and other laboratory investigations as indicated. Ideally, autopsy examination is performed on intact, fresh fetuses terminated by medical procedures. However, autopsy examination following surgical termination procedures has 31 been reported to be of value to genetic counseling (Shulman, et al., 1990; Klatt, 1995). 1.6.2 Overview of Congenital Abnormalities Fetal abnormalities encompass a wide extent of pathological anomalies. The abnormalities may represent mild or severe (disabling or incompatible with life) defects; they may occur in isolation or multiply. Careful reporting of the nature of pathological anomalies is necessary prior to causative analysis. The field of pathology has developed terminology that helps describe congenital abnormalities and provides a starting point in determining pathogenic mechanisms. 1.6.2.1 Classification of Fetal Abnormalities A variety of schemes can be used in the classification of fetal abnormalities. Fetal abnormalities may be broadly and best characterized according to the mechanism through which the abnormality arose as malformations, disruptions, deformations or dysplasias (Hall, 1992). Malformations are morphological defects occurring in an organ or in a larger part of the fetus consequent to an intrinsically abnormal developmental process. Disruptions are morphological defects occurring in an organ or in a larger part of the fetus consequent to an extrinsically caused failure of an otherwise initially normal developmental process. Deformations are abnormalities in the position or conformation of a component of the fetus 32 resulting from mechanical forces. Dysplasias are abnormalities in the organization of cells in a specific single tissue. Determining the mechanisms through which congenital abnormalities arise is an important step in reaching an understanding of the etiology and recurrence risks of defects in the fetus. Patterns of fetal abnormalities may also be classified according to the understanding of the cause of the abnormality. In this scheme, patterns of fetal abnormalities are categorized as belonging to syndromes, sequences, associations or developmental field defects (Hall, 1992). A syndrome is a pattern of fetal abnormalities that have a shared etiology. A sequence is a recognized pattern of fetal abnormalities that arise from a single primary defect. An association can be defined as the nonrandom occurrence of multiple fetal abnormalities not otherwise identified as a sequence or a syndrome. Typically, the fetal abnormalities found in association are major defects arising at the same time in embryonic development (Lubinsky, 1986). Developmental fields are embryonic regions that act as spatially coordinated units during development. A defect in a developmental field results in multiple fetal abnormalities occurring in the affected region. 1.6.3 Etiology of Fetal Abnormalities The etiologies of fetal abnormalities may be classified as genetic, environmental, and unknown. The proportion of fetal abnormalities attributed to these etiologies have been reported to be 15 to 25% with genetic 33 etiologies, 10% with environmental etiologies and 65 to 75% with unknown etiologies (Brent, and Beckman, 1994). Genetic etiologies may be classified as single gene disorders (with autosomal recessive, autosomal dominant or sex-linked inheritance), chromosomal anomalies (aneuploidies, deletions, rearrangements or duplications), or mitochondrial disorders. Environmental exposures during pregnancy that may be of harm to the fetus include maternal conditions such as alcoholism, diabetes mellitus, endocrinopathies, and nutritional deficiencies; maternal infections such as varicella, cytomegalovirus, rubella, and toxoplasmosis; and maternal ingestion of teratogenic agents such as alcohol, vitamin A derivatives, or anticonvulsants (Brent, and Beckman, 1994). Etiologies that can be classified as unknown include: polygenic disorders, which involve the interaction of multiple genes; multifactorial disorders, which involve the interaction of genetic, environmental and stochastic factors; and stochastic causes, in which fetal malformations may occur by a chance or stochastic event during development. Stochastic events are unpredictable and do not seem to carry much of a recurrence risk (Hall, 1992). 1.7 Overview of Genetic Counseling Genetic counseling has been described as "a communication process which deals with the human problems associated with the occurrence, or risk of occurrence, of a genetic disorder in a family. This process involves an attempt by one or more appropriately trained persons to help the individual 34 or the family to: i . comprehend the medical facts, including the diagnosis, the probable course of the disorder and the available management; i i . appreciate the way heredity contributes to the disorder and the risk of recurrence i n specified relatives; i i i . understand the options for dealing wi th the risk of recurrence; iv. choose the course of action which seems appropriate to them i n view of their r isk and their family goals and act i n accordance wi th that decision; and v. make the best possible adjustment to the disorder i n an affected family member and/or to the risk of recurrence of that disorder.", (Fraser, 1974). Genetic counseling usually involves, but is not l imited to, decisions regarding reproduction. Couples face many choices while undergoing genetic counseling, the choice of ut i l iz ing invasive prenatal "diagnostic procedures, the choice of continuing or terminating an affected pregnancy, and the choice of termination procedure. 1.7.1 Recurrence Risks The provision of recurrence risks, the probability that subsequent children w i l l be affected, is dependent on the accurate diagnosis of fetal abnormalities and inherited diseases by detailed autopsy examination, ultrasonography, and biochemical, molecular, or cytogenetic investigations. Recurrence risks can be divided into two classes, mendelian or empirical. Fetal abnormalities of mendelian origin may be of autosomal recessive (AR), autosomal dominant (AD), or X-l inked recessive/ dominant traits. Based on Mendel's Law of Segregation, recurrences risks for A R and inherited A D 35 conditions are usually 25% and 50%, respectively. For X-linked conditions, the recurrence risks are dependent up on the genotype of each parent and the sex of the offspring. Empirical recurrence risks are provided for fetal abnormalities of chromosomal, multifactorial or sporadic origin. Empirical risk estimates are based on the study of large numbers of families in which the siblings of an affected proband are surveyed to determine the proportion who also have the condition. Depending upon the number of families studied and the frequency of recurrence, the empirical risk estimate will have a greater or lesser degree of precision. Several factors should be weighed when providing empirical recurrence risks. Due to the genetic heterogeneity of fetal abnormalities, it may be invalid to lump all families with an abnormality into one group (e.g. Down syndrome due to trisomy, familial translocation or de novo translocation). Furthermore, as the empirical risks are based on the study of populations, it should be determined whether the abnormality varies with ethnicity or environment when applying the estimates in other populations. 1.8 Aims of the Present Study The purpose of the thesis is to examine the influence of the method of pregnancy termination on the assessment of recurrence risks. It is widely held that following surgical termination procedures, the likelihood of ascertaining all the abnormalities in a fetus at autopsy is greatly reduced. However, fetal autopsy following surgical termination procedures has been suggested to provide information of value to genetic counseling, including confirmation of prenatal diagnosis and identification of fetal abnormalities that were not detected on ultrasound examination (Klatt, 1995; Shulman, et al., 1990). Couples facing a choice of termination procedures following the identification of fetal abnormalities should weigh the possibility that after a surgical termination, information of use to genetic counseling may be missed at fetal autopsy. This thesis proposes that abnormalities exist that are resistant to the physical disruption inherent in the surgical termination procedures and will therefore be available for identification at autopsy. Additionally, this thesis suggests that if the prenatal diagnosis is of a nature that an accurate recurrence risk can be offered prior to the termination (chromosome abnormalities), then the surgeon may perform the surgical termination in such a way as to yield products of conception that are less amenable to thorough autopsy examination. Conversely, if an accurate recurrence risk cannot be predicted prior to the termination, then the surgeon may perform the surgical termination in such a way as to yield products of conception that have a greater amenability to autopsy examination. Finally, this thesis suggests that the gestational age of the fetus at termination will influence the completeness of the products of conception to autopsy examination. 37 A retrospective chart review of ultrasound reports and autopsy reports was undertaken i n pregnancies terminated for fetal abnormalities to examine the influence of the termination procedure on the ability to assess recurrence risks at autopsy. This study w i l l provide information of use i n genetic counseling and to parents deciding which termination procedure is most appropriate to their needs. 38 2 Methods and Subjects 2.1 Ascertainment of Subjects This study involved a retrospective chart review of patients referred to the British Columbia Provincial Medical Genetics Programme between January 1st, 1991 and January 1st, 1996. Selection of Medical Genetics charts for inclusion in the study was performed in two steps. In the first step, patient charts were identified by an audit of Medical Genetics clinician on-call records of prenatally abnormal cases. The on-call records document the patient's name, Medical Genetics chart number, the geneticist and genetic counsellor involved in the case, the indication for referral, and further investigations undertaken. Selection criteria for the audit included consecutive cases recorded as terminated (TA), all cases of CVS, amniocentesis and cordocentesis abnormalities, as well as all cases of ultrasound abnormalities where the pregnancy outcome was not recorded. In the second step, the charts identified by the audit were subjected to the following criteria for inclusion in the study: a prenatal diagnosis of a fetal abnormality had been made by ultrasound or cytogenetic investigations, a decision was made to terminate the pregnancy or the pregnancy resulted in a stillbirth, and consent had been given for fetal autopsy examination in those cases cases terminated after 20 weeks of gestation. 39 2.2 Sources of Data In most cases, the Medical Genetics charts included copies of ultrasound reports, cytogenetics reports, and autopsy reports. If not contained in the Medical Genetics chart, access to the ultrasound reports and the autopsy reports was obtained through the Ultrasound Department at B.C.'s Woman's Hospital and the Autopsy/Embryopathology Section of the Department of Pathology at B.C.'s Children's Hospital, respectively. For the cases in which a surgical termination was performed during the period of Jan. 1 s t, 1995 to Jan. 1 s t, 1996, information regarding the utilization of cervical dilators was sought from the C.A.R.E. programme at B.C.'s Women's Hospital. Patient information was directly transcribed from the patients' charts onto a dataform (Appendix I) and linked only by a unique number. 2.2.1 Maternal Information The mother's age and reproductive history including gravidity (G), parity (P), number of terminations (TA), number of spontaneous abortions (SA), number of stillbirths (S), number of living children (L), and number of neonatal losses (N), were recorded. The indication for medical genetics referral was also recorded. 2.2.2 Ultrasound Information Information transcribed from the ultrasound report included the indication for ultrasound examination and the written description of the ultrasound findings (see Appendix II). Additionally, the estimated gestational age at ultrasound examination by last known menstrual period (dates) and by ultrasound-determined growth parameters and the amniotic fluid status (normal, mild, moderate and severe oligohydramnios and mild, moderate and severe polyhydramnios) were recorded. 2.2.3 Autopsy Information Information transcribed from the autopsy report included the name of physician who performed the pregnancy termination, the method of termination, the estimated gestational age at autopsy, the physical condition of the products of conception (e.g. intact, damaged parts, fragmented, macerated), the writ ten description of the autopsy findings, and a description of which tissues were examined at autopsy (gross or histological examination). Autopsy findings are listed in Appendix III and Appendix IV. 2.2.4 Cytogenetics Information The results of cytogenetics investigations were transcribed from the cytogenetics reports. Prenatal cytogenetic results and the procedure used to obtain tissue for cytogenetic analysis (CVS, amniocentesis, or cordocentesis) were recorded. Cytogenetics results following the termination of pregnancy were also recorded. If a report was not contained wi th in the Medical Genetics chart or described in the physician consultation letters, it was concluded that cytogenetics investigations were not performed. 41 2.3 Database Construction All information transcribed from patient charts and records was entered into a Microsoft ACCESS ™ (version 7.0) database on an IBM compatible personal computer. Microsoft ACCESS is a 'relational database management system' which permits storage and retrieval of information according to defined relationships. The data were entered into five tables (Demographic, Ultrasound, Ultrasound Findings, Autopsy, and Autopsy Findings) that were related to each other by unique case number. Microsoft ACCESS 'Queries' enable the retrieval (assessment) of data that are stored in tables based on selection criteria, thereby facilitating data analysis. 2.4 Data Coding Data were coded to facilitate analysis in the following database fields: indication for Medical Genetics' referral, indication for ultrasound examination, amniotic fluid volume, description of ultrasound finding, method of termination, pre-termination fetal demise, tissues examined at autopsy, ultrasound findings, and autopsy findings. Codes for fields other than ultrasound findings and autopsy findings are listed in appendix V. Codes used for ultrasound findings and autopsy findings were drawn from the British Paediatric Association Classification of Diseases (1979), a perinatal supplement to the 9 t h revision of the International Classification of Diseases (ICD-9). 42 2.5 Analysis 2.5.1 Ability to Make a Final Diagnosis at Autopsy Autopsy reports were examined to address whether the ability to make a final diagnosis based on autopsy findings was influenced by the method of termination. Cases with chromosomal abnormalities were excluded from this analysis. Additionally, analysis was restricted to the cases with specific ultrasound-identified or -suspected abnormalities that encompassed a broad range of affected tissues. Cases with more than one of the specific ultrasound-identified abnormalities were counted only once in the analysis. It was determined that a final diagnosis could be based upon autopsy findings if the diagnosis was based soley upon the recognition of patterns of abnormalities found at autopsy, not upon the ultrasound findings. If a final diagnosis was made using information derived from the ultrasound report, then it was determined that the final diagnosis was not based upon the autopsy findings. For example, if a final diagnosis of Meckel-Gruber syndrome was based on the autopsy findings of cystic kidneys and Polydactyly and the ultrasound finding of encephalocele (the ultrasound finding being used because the calvarium was fragmented by the termination procedure and thus the encephalocele could not be confirmed at autopsy), this diagnosis would not be considered to be based on the autopsy findings. For each of the cases, the following additional information was assessed: the method of termination, classified as either surgical (dilatation and curettage or dilatation and evacuation) or medical (induced labour or stillbirth); the prenatal cytogenetics results, classified as either abnormal or normal/unknown; and the estimated gestational age at termination, classified according to the groupings 10-14 weeks, 15-20 weeks, 21-24 weeks, and 25 + weeks. Statistical analysis was performed using SPSS statistical software on an IBM compatible personal computer. The data were arranged into 2 X 2 contingency tables with the ability to make a diagnosis based soley on the autopsy findings set as the dependent variable and the method of termination set as the independent variable. Odds ratios with 95% confidence intervals were assessed to determine if an association existed between the ability to make a diagnosis based on autopsy findings and the method of termination. For observation purposes, among the cases terminated by a surgical method, the ability to make a diagnosis based on autopsy findings was distributed against the prenatal cytogenetics results and the estimated gestational age at termination. See section 2.6 for a description of the statistical methods. 2.5.2 Method of Pregnancy Termination All the cases included in the study were examined to address whether the method of termination was independent of the prenatal diagnosis of a chromosomally abnormal fetus. A Microsoft ACCESS query was performed that selected for the method of termination and the corresponding prenatal karyotype and gestational age at termination for each case. The method of 44 termination was categorized as surgical (dilatation and curettage or dilatation and evacuation) or medical (induction), the prenatal karyotype was categorized as abnormal or normal/unknown, and the gestational age was recorded as a continuous variable. Unassisted stillbirths, i n which the fetus was spontaneously aborted or miscarried, were treated as medical cases. Cases wi th intrauterine demise identified by ultrasonography were categorized as either surgical or medical according to the method used to evacuate the uterus. Statist ical analysis was performed using SPSS statistical software on an I B M compatible personal computer. The data were arranged into tables wi th the method of termination set as the dependent variable. The prenatal cytogenetic results and the estimated gestational age at termination were set as independent variables. Mul t ip le logistic regression was performed to assess the effect that the prenatal cytogenetics results and the gestational age at termination had on the probability that a surgical termination method was used. See section 2.6.3 for a description of the statistical methods. 2.5.3 Tissues Examined at Autopsy Autopsy reports were examined to address whether the ability to examine specific tissues at autopsy was influenced by the method of termination, the prenatal diagnosis of a chromosomal abnormality or the estimated gestational age at termination. Examinat ion of autopsy findings for fetuses terminated wi th specific ultrasound identified abnormalities was 45 facilitated by performing Microsoft A C C E S S queries. Mul t ip le queries were performed i n which cases were selected by specific ultrasound-identified or -suspected fetal abnormalities (see table 2.1). Following the identification of cases wi th specific ultrasound-identified abnormalities or -suspected ^ abnormalities, the corresponding autopsy reports were assessed to determine whether the structure(s) identified as or suspected to be abnormal by ultrasonography were examined at autopsy. This assessment was based on the description of the gross or microscopic examination of the tissue i n the autopsy report. If no description was found i n the autopsy report or i f there was a statement that the tissue was not examined at autopsy, then the tissue was considered not examined. It is assumed that i f the fetal tissues are in a condition that they can be examined, then they w i l l be assessed at embryofeto-pathology examination. Cases wi th specific ultrasound-identified or -suspected fetal abnormalities were selected for this analysis. These fetal abnormalities were chosen because they encompassed a broad range of affected tissues. Table 2.1 Case Subgroups Used in Analysis Ultrasound-Identified Abnormali ty Abdominal W a l l Defects (Gastroschisis or Omphalocele) Anencephaly/Acrania Congenital Heart Defects (Structural) Cystic Hygroma Cystic Kidney Disease Diaphragmatic Defects Nonimmune Fetal Hydrops 46 For each of the cases, the following additional information was assessed using Microsoft ACCESS queries: the method of termination, classified as either surgical (dilatation and curettage or dilatation and evacuation) or medical (induced labour or stillbirth), the prenatal cytogenetics results, classified as either abnormal or normal/unknown, and the estimated gestational age at termination, classified according the groupings 10-14 weeks, 15-20 weeks, 21-24 weeks, and >25 weeks. Cases with more than one of the specific ultrasound-identified abnormalities were counted multiple times. The results of the above assessments were subsequently entered into Microsoft ACCESS tables. Statistical analysis was performed using SPSS statistical software on an IBM compatible personal computer. The data were arranged into 2 X 2 contingency tables with the examination at autopsy assessment fixed as the dependent variable (row heading) and the method of termination set as the independent variable (column heading). Fisher's exact tests were performed to test for independence of the variables. Additionally, odds ratios with 95% confidence intervals were assessed to determine if an association existed between the ability to examine specific tissues at autopsy and the method of termination. For observation purposes, the examination at autopsy assessment for cases terminated with a surgical method was distributed against the results of prenatal cytogenetics investigation and the estimated gestational age at termination. f 47 2.5.4 CNS, Heart and Kidneys Evaluated at Autopsy A t autopsy, the evaluation of the C N S , the heart and the kidneys yield information important to establishing a diagnosis. Autopsy reports were examined to address whether the ability to evaluate the C N S , heart and kidneys was influenced by the method of termination. Analysis was performed on a l l the cases i n the study. The assessment of whether the tissue was able to be evaluated at autopsy was based on the description of the gross or microscopic examination of the C N S , heart and kidneys i n the autopsy report. If no description was found in the autopsy report or i f there was a statement that the tissue was not examined at autopsy, then the tissue was considered not to be examined. For each of the cases, the following additional information was queried: the method of termination, the prenatal cytogenetics results, the estimated gestational age at termination, the physician who performed the termination, the number of cervical dilators uti l ized in the termination, and the gravidity of the mother. Statist ical analysis was performed using SPSS statistical software on an I B M compatible personal computer. The data were arranged into 2 X 2 contingency tables. The ability to evaluate the C N S , heart and kidneys at autopsy was set as the dependent variable and the method used to terminate the pregnancy was set as the independent variable i n the contingency tables. C h i square tests were performed to determine i f an association existed between the ability to evaluate the C N S , heart or kidneys and the method of 48 termination. Addit ionally, odds ratios wi th 95% confidence intervals were assessed to determine i f an association existed between the ability to evaluate the C N S , heart or kidneys and the method of termination. For the cases terminated by a surgical method, multiple logistic regression was performed to assess the effect that the prenatal cytogenetics results and the gestational age at termination had on the probability that the C N S , heart or kidneys could be evaluated at autopsy. See section 2.6 for a description of the statistical methods. 2.6 Statistical Analysis 2.6.1 Chi Square Test In a chi-square test, a theoretical population distribution is compared wi th a distribution generated by a sample. In other words, the chi square test is used to determine the probability that the observed data could have been found by chance. C h i square contingency tables were constructed to test the groups i n a tabular form. Table 2.2 shows a sample 2 X 2 contingency table. Table 2.2 Sample 2X2 Contingency Table Method of Termination Examined Surgical Medical Row Totals Yes X n X12 R i No X21 X22 R2 Column Totals c 2 C 2 Total(T) 49 In 2 X 2 contingency tables, the cases are divided into 4 "cells", X n , X12, X21, and X22, based upon the variables under investigation. The expected number of cases i n each of the cells under the nu l l hypothesis was calculated using the formula: fn= ( C i H R i ) T where: fy equals the expected number of cases i n cell Xy (i = 1, 2, j = 1,2); Cj equals the total for column j j = 1, 2; Ri equals the total for row i i = 1, 2; T equals the total number of cases. The chi square formula is: X 2 = £ (Ifi - fii - 0.5)2 j where: i and j serve as labels for the rows and columns; fij equals the observed number of cases i n row i and column j ; fij equals the expected number of cases in row i and column j ; under the nu l l hypothesis; -0.5 equals the Yates correction for continuity (Zar, 1984); and E indicates summation for each cell i n the contingency table. Due to the fact that the data being tested is a sample count, whereas the chi-square distribution is continuous, the Yates correction for continuity was used. The calculated chi-square value can be compared wi th the critical values of the theoretical chi-square distribution, which are the chi square values that can occur by chance (due to sampling error) for different degrees of freedom and different levels of a. The calculated chi-square values using sampling counts are thus only approximations of the theoretical distribution. For degrees of freedom other than one, the approximation is good. When the 50 degree of freedom is one, as in 2 X 2 contingency tables, Yates correction for continuity can be used to lower the chi-square value and accordingly decrease the probability of a type I error. 2.6.2 Fisher's Exact Test The Fisher's exact test is an alternative to the Chi-square test which computes the exact p-value for a particular sample. The Fisher's exact test is generally used when sample sizes are small (< 20). Similar to the chi square test, the Fisher's exact test makes use of 2 X 2 contingency tables. The Fisher's Exact test considers concurrently two binomial probabilities (pi and p2): the probability of fn being found at random from a total of Ri cases (pi) and the probability of fi2 being found at random from a total of R2 cases (p2). The Fisher's Exact test consists of calculating the actual probability of the observed 2 X 2 contingency table with respect to all other possible 2 X 2 contingency tables with the same row (Ri and R2) and column (Ci and C2) totals (Altman, D., 1991). The probabilities of all such tables that are each no more likely than the observed table are calculated and summed. If the sum is less than or equal to a specified significance value (see above), then the null hypothesis can be rejected. The Fisher's exact test is denoted by the formula: Ri!R 2!Ci!C 2! P= n! , fll!fl2!f2l!f22! 51 where: R! equals the factorial of the total number of cases i n row 1 or 2; C! equals the factorial of the total number of cases i n column 1 or 2; f. equals the factorial of the observed number of cases i n the cells; n! equals the factorial of the total number of cases; and P equals the probability of seeing the original data set i f the nu l l hypothesis is true. 2.6.3 Multiple Logistic Regression In multiple logistic regression analysis, variables may be tested to determine i f they are related and the strength of the relationship may be calculated. The logistic regression model fits the log odds of a response (dependent) variable to a linear function of explanatory (independent) variables, (Menard, S., 1995). Thus, the logistic regression formula may be used to predict the value of a response variable based upon information about explanatory variables. The multiple logistic regression formula is: logit (p) = ln( p ) = a + p X i + P X 2 . . . p X n , 1-p where: p is the probability of an event i n the response variable; a is a constant; X is the explanatory variable; and P is the effect (increment in log odds) of an explanatory variable. For example, In examined at autopsy = a + P(PND of Chr. Abn.) + P(Gest. Age at TA). not examined at autopsy For convenience, an exponential transformation of the multiple logistic regression model can be used, (Menard, S., 1995): p = e [ a + P(Xi) + P(X2)+... P(Xn)] t o r 1 + e [« + P(Xl) + P(X2) + ... P(Xn)] 52 probability of examined at autopsy = e a + P < P N D ° f C h r - A b n > + P ( G e s t - Ae e a t T A> l + g » + P(PND of Chr. Abn.) + P(Gest. Age at TA) The P coefficient measures the strength of the relationship between the response variable and the explanatory variable(s) and may be expressed as an odds ratio, exp p. The odds ratio is the amount that is multiplied to the odds of a response variable outcome for the different categories of the explanatory variable. The odds ratio may be expressed as the equation: P e P = 1 - P , F 1 - P where: e p is the odds ratio: P is the probability of a response variable outcome under category 1 of an explanatory variable; P ' is the probability of a response variable outcome under category 2 of an explanatory variable; and P _ is the odds of the event occurring i n the response variable. 1 - P A n odds ratio greater than 1.0 means the probability of a response variable outcome (e.g. examined at autopsy) is increased i n the presence of the explanatory variable (e.g. P N D of normal karyotype), while an odds ratio less than 1.0 implies that the probability of a response variable outcome is decreased i n the presence of the explanatory variable. A n odds ratio of 1.0 means that the probability of a response variable outcome is independent of the explanatory variable. The 95% confidence interval for the odds ratio is calculated by e p ± 2 ( s E), where S.E. is the standard error for the P coefficient. 53 In this thesis, multiple logistic regression was performed with several different response variables (see Table 2.3). The response variables were regressed against the explanatory variables, prenatal diagnosis of a chromosomal abnormality (Normal/Unknown or Abnormal) coded as 1 or 2, Table 2.3 Response Variables Used in Logistic Regression 1) Method used to terminate the pregnancy (Surgical or Medical), coded as 1 or 0. 2) CNS evaluated at autopsy following surgical termination procedures (Yes or No), coded as 1 or 0. 3) Heart evaluated at autopsy following surgical termination procedures (Yes or No), coded as 1 or 0. 4) Kidneys evaluated at autopsy following surgical termination procedures (Yes or No), coded as 1 or 0. and the estimated gestational age at termination (treated as a continuous variable). Additionally, the effects of the explanatory variables in interaction was also tested (e.g. the effect of prenatal diagnosis of a chromosomal abnormality and estimated gestational age at termination (see Figure 2.1). Figure 2.1 Relationships Analyzed in Logistic Regression EXPLANATORY VARIABLES Results of Prenatal Cytogenetics Investigations Estimated Gestational Age at Termination V ) RESPONSE VARIABLES r Probability of: Surgical Termination CNS Examination at Autopsy Heart Examination at Autopsy Kidney Examination at Autopsy y 54 Mult ip le logistic regression can also be employed to assess whether an interrelationship exists between two explanatory variables (Xi and X2). This assessment requires that the logistic regression first be performed using both of the explanatory variables. A second logistic regression is subsequently performed using only one of the explanatory variables (Xi). If the p value for the explanatory variable X i changes dramatically between the two logistic regressions, then a strong interrelationship exists between the two explanatory variables. When a strong interrelationship is found between two explanatory variables, a logistic regression can be performed to determine a model for the relationship between the two variables (e.g. X i = a + PX2). A final multiple logistic regression can be performed substituting the above model into the multiple logistic regression formula: logit (p) = ln( p ) = a + p(a + pX 2 ) + p X 3 ... PX„ . 1- p 2.6.3.1 Evaluation of Multiple Logistic Regression The logistic regression output from SPSS (version 6.1.4) statistical software includes several measures for evaluating the significance of the logistic regression model. Several questions may be asked regarding the statistical significance of the results of the logistic regression analysis. How confident can one be that a relationship between a l l the explanatory variables, taken together and the response variable is beyond what may be expected by chance? If a relationship exists between an explanatory variable 55 and a response variable, how strong is it? If the overall model fits the data well, how important is each of the explanatory variables? Is the relationship between any of the variables attributable to random sample variation? Which explanatory variables are stronger or weaker predictors of the response variable? The initial log-likelihood function (-2 log likelihood) is the equivalent of the total sum of squared errors when predicting the value of a response A variable, Y, by using the mean of Y, Y, as the value predicted for all of the A cases. The formula for the sum of squared errors is Z(Y-Y)2. When the log-likelihood is multiplied by -2, it has approximately a chi square distribution. Large values of-2 LL indicate poorer predictions in outcomes of the response variable (Menard, 1995). The model log-likelihood function and model chi square provide tests of the null hypothesis that P i = P2 = . . .= Pk = 0 for the model or that the explanatory variables are independent of the response variable. If the model chi square is statistically significant, then the null hypothesis may be rejected and it can be concluded that the explanatory variables permit better predictions to be made about the response variable than could be made without the explanatory variables (Menard, S., 1995). The percentage by which the multiple logistic regression model improves the predictability of the response variable when compared to predictions based on the mean of the response variable is measured by the R 2 L statistic. The R 2 L statistic is calculated by dividing the model chi square 56 score by the in i t i a l -2 log-likelihood. The Wald statistic (W 2) is used to test for the statistical significance of the effect (p) that an explanatory variable has on the response variable, (Menard, S., 1995). The Wald statistic is calculated as W 2 = [p/S.E. p] 2, and is distributed as a chi square distribution. The Wald statistic is calculated for the explanatory variable as a whole and also for the separate categories of the variable. The statistical significance of the individual explanatory variables should be considered only i f the explanatory variables as a group have a statistically significant effect on the response variable. The statistical significance of the individual explanatory variables should be interpreted as whether the effects of being i n a certain category are statistically significantly different from the average effect of the categorical explanatory variable, given that the categorical explanatory variable has a statistically significant effect to begin wi th (Menard, S., 1995). 2.6.4 Odds Ratios Calculat ing an odds ratio is another way of making comparisons between two categories. The results of odds ratio analysis may be particularly useful for counselling purposes. Us ing this method, the odds of an outcome i n a dependent variable i n one category are compared wi th the odds of the outcome i n a second category. Drawing from symbols used i n table 2.2, the odds ratio may be calculated as: Odds Ratio(OR) = (Xn)(X 22) , (Altman, 1991), (X12XX21) 57 where: X i i is the number of cases in category 1 with outcome 1; X12 is the number of cases in category 1 with outcome 2; X21 is the number of cases in category 2 with outcome 1; and X 22 is the number of cases in category 2 with outcome 2. An odds ratio greater than 1 indicates that there is a greater risk for outcome 1 in category 1, than in category 2. Whereas, an odds ratio less than 1 indicates that there is a lesser risk for outcome 1 in category 1 in comparison with category 2. When the 2 X 2 contingency tables contained cells with zero frequencies, a constant of 0.5 was added to all of the cells (Shoukri and Edge, 1996). To obtain a 95% confidence interval for the odds ratio, or the range of values for the odds ratio which we can be confident includes true value 95% of the time, the standard error (S.E. loge OR) of the logarithm of the odds ratio must first be determined. The standard error can be calculated by the formula: S.E.floge OR)= Vl/Xn + I /X12+ I/X21 +I/X22 , (Altman, 1991). The 95% confidence interval is derived from the formula: loge OR ± 1.96 x S.E. (loge OR) . 2.6.5 Significance Levels The a error is the probability of committing a type I error, or the probability of a false rejection when the null hypothesis is true. The a error 58 is additive over a set of statistical tests. As multiple statistical tests were performed i n this thesis, the overall a for the set of tests was calculated. The individual a was calculated using the Bonferroni method, (Altman, 1991): a' = a , k where: a is the overall alpha level (= 0.05), a' is the alpha level for each test, and k is the number of statistical tests. As thirteen statistical tests were performed in this study, a critical value of 0.00385 was used for significance. The probability of accepting the nu l l hypothesis when it is false (type II error) is denoted as (3. The two types of errors are inversely related, so that as the a value decreases, the p value increases. The p value is dependent on the a level, the sample size and the effect size - how much of an effect the independent variables have on the dependent variable. The power of a statistical test, or the probability of rejecting a nu l l hypothesis when it is false, is equal to (1 - P). 2.7 Ethical Review Eth ica l review was sought and approval earned from the Cl in ica l Screening Committee For Research and Other Studies Involving H u m a n Subjects of the Universi ty of Br i t i sh Columbia (REB), the Research Coordinating Committee of the Br i t i sh Columbia Women's Hospital and 59 Heal th Centre Society, the Br i t i sh Columbia's Children's Hospi tal Research Review Committee, and the Universi ty of Br i t i sh Columbia's Department of Medical Genetics Cl in ica l Records Committee. Confidentiality of the data was maintained by storing a l l notes and dataforms i n a locked research cabinet. A l l computer files were password protected. Moreover, a l l data i n this thesis contain no identifying information. 60 3 Results 3.1 Sample Analyzed Nine hundred and eighty one cases, identified by an audit of Medical Genetics clinician on-call records, were examined to determine eligibility for inclusion in this thesis project. 521 cases were selected for inclusion in this thesis. Of these cases, eight were twin pregnancies, therefore the total number of fetuses included in this thesis was 529. The average maternal age was 31.6 years (15-45 years) for these cases. Of the 521 cases, spontaneous abortions accounted for 18 of the cases. Prenatal karyotyping was performed on 305 of the cases and was successful in 300 of the cases, for a 98.4% success rate. Post-termination karyotyping was performed on 446 of the cases and was successful in 410 of the cases, for a 91.9% success rate. Table 3.1 summarizes the results of the cytogenetic investigations. 47.8% (255) of the cases were found to have chromosomal abnormalities, and overall, 80.0% of chromosomally abnormal cases were diagnosed prenatally. The chromosomal status of the fetus in 28 cases was unknown, due to failure of karyotyping after termination or both prenatal and post-termination cytogenetic investigations not being performed. 3.2 Sample for Method of Termination Analysis The method of termination was assessed for each of the 521 cases. The distributions of the method of termination against the prenatal cytogenetics 61 results and the estimated gestational age at termination are summarized i n Table 3.2 and Figure 3.1, respectively. The average estimated gestational age at termination for cases terminated wi th a surgical procedure of 16.4 weeks (95% C.I.= 16.1 - 16.7 weeks) was significantly different than the average estimated gestational age at termination for cases terminated wi th a medical procedure of 20.8 weeks (95% C.I. = 20.2 - 21.4 weeks). Table 3.1 R E S U L T S O F C Y T O G E N E T I C I N V E S T I G A T I O N S Fetal Abnormality # of Cases Diagnosed Prenatally # of Cases At Final Diagnosis % of Cases Diagnosed Prenatally Chromosomal Abnormalities 204 255 80.00% Trisomy 211 83 89 93.25% Trisomy 181 29 40 56.67% Trisomy 131 21 29 72.50% Translocations2 20 23 87.00% Turner syndrome1 17 32 53.10% Triploidy 10 12 83.30% Other abnormalities3 24 30 80.00% Normal Karyotype 96 238 Unknown Karyotype 221 28 1 Includes mosaic cases 2 Balanced & unbalanced 3 Including 47, XXX, 47, XXY, Ring, idic, del, dup, inv, other trisomies, and C P M Table 3.2 DISTRIBUTION OF PRENATAL CYTOGENETIC RESULTS BY METHOD OF TERMINATION Method of Total # of Cases Total # of Cases With PND of: Termination Abn. Karyotype Normal/Unknown Karyotype Surgical 300 145 155 Medical 221 59 162 Total 521 204 317 Figure 3.1 DISTRIBUTION OF ESTIMATED GESTATIONAL AGE AT TERMINATION VS METHOD OF TERMINATION 50 T ' - , ' - , - * ' - l ' - < C < l < N < N C < l ( M C O e O C O C O EGA at TERMINATION (weeks) In most cases, the estimated gestational age at termination described i n this thesis was determined by foot length measurements as recorded on the autopsy report. The surgical termination cases encompassed both dilatation and curettage (D & C) and dilatation and evacuation (D & E) procedures, of which there were 21 and 279, respectively. The medical 63 termination cases encompassed induced labour terminations and spontaneous losses, of which there were 202 and 18, respectively. Additionally, one case categorized as a medical termination was terminated by hysterotomy. 3.3 Diagnosis Based on Autopsy Analysis Examination of the autopsy reports for the 230 cases terminated with specific ultrasound-identified or -suspected fetal abnormalities was performed to determine if the method of termination influenced the likelihood that a diagnosis could be based on autopsy findings. Cases that were found to have abnormal karyotypes were excluded from this analysis as the diagnosis in these cases is based on the karyotype, not the autopsy findings. Table 3.3 summarizes the distribution of the ability to reach a final diagnosis based on autopsy findings against the method of termination. Overall, a diagnosis could be based on autopsy reports for 112 of the 133 cases (84.2%). For all but one case terminated by a medical method, a diagnosis could be based on the autopsy findings. In this one case, the autopsy examination was restricted by parental request to external examination only. Table 3.3 DISTRIBUTION OF CASES WITH DIAGNOSES BASED ON AUTOPSY FINDINGS Diagnosis From Total # Total # of Cases With Odds Ratio 95% Confidence Autopsy Findings of Cases Medical TA Surgical TA Interval Yes 112 76 36 42.2 5.4- 327.0 No 21 1 20 Odds ratio analysis was performed to compare for the ability to base diagnoses on the autopsy findings and the different methods of termination. The fetal autopsy was 42.2 times less l ikely to provide a diagnosis i n those cases terminated wi th a surgical method that wi th a medical method. The ability to base diagnoses on autopsy findings is decreased when a pregnancy is terminated by a surgical method, as compared to a medical method. 3.4 Specific Tissue Examined At Autopsy Analysis In order to determine i f the method of termination influences the ability to examine specific ultrasound-identified or -suspected fetal abnormalities at autopsy, ultrasound findings and corresponding autopsy findings were compared (Appendix II and III). The distribution of cases wi th specific ultrasound-identified or -suspected abnormalities by the method of termination is described i n table 3.4. 230 cases were identified or suspected by ultrasound examination to have one or more of the following abnormalities: diaphragm defect (17 cases); cystic kidney disease (22 cases); anencephaly (34 cases); abdominal wa l l defect (omphalocele or gastroschisis -42 cases); fetal hydrops (44 cases); cystic hygroma (67 cases); and structural heart defect (68 cases). Isolated fetal abnormalities identified or suspected by ultrasound examination accounted for 60 of the 230 cases (26.1%). Note that complex malformations of the heart and the spectrum of abnormalities that contribute to the diagnosis of nonimmune fetal hydrops were considered to be 65 single malformations. Anencephaly wi th associated abnormal spine anatomy was considered to be a multiple malformation case. Table 3.4 DISTRIBUTION OF THE CASES TERMINATED WITH SPECIFIC ULTRASOUND -IDENTIFIED OR -SUSPECTED FETAL ABNORMALITIES Fetal Abnormality Total # of Cases With Abn. Total* of Cases With Surg. TA Med. TA Odds Ratio* 95% C.I. Fisher's exact P Value Abdominal Wall Defects 42 20 22 30.60 1.63 - 575.84 0.00107* Not Examined 8 0 Examined 12 22 Anencephaly 33 13 20 8.91 0.39 - 202.07 0.14773 Not Examined 2 0 Examined 11 20 Cystic Hygroma 67 51 16 146.18 7.97 - 2680.93 < 0.00001* Not Examined 37 0 Examined 14 16 Cystic Kidney Disease 22 6 16 N/A N/A N/A Not Examined 0 0 Examined 6 16 Diaphragm Defects 17 8 9 19.00 0.83 - 434.47 0.02941 Not Examined 4 0 Examined 4 9 Fetal Hydrops 44 24 20 9.00 0.45 - 178.12 0.13397 Not Examined 4 0 Examined 20 20 Structural Heart Defects 68 23 45 21.00 1.08 • 409.15 0.01087 Not Examined 4 0 Examined 19 45 t 0.5 constant added to each cell for odds ratio analysis due to zero frequency in Medical TA/Not Examined cell. * Statistically significant results Fisher exact tests were performed to test for independence between the ability to examine specific ultrasound-identified or -suspected abnormalities at autopsy and the method of termination. A significant difference was found between the different termination procedures and the frequency of cases in 66 which abdominal wa l l defects or cystic hygroma were able to be evaluated at autopsy. Odds ratio analysis was performed to compare for the ability to evaluate these specific ultrasound-identified or -suspected abnormalities at autopsy and the different methods of termination. This analysis found that the odds of not being able to evaluate abdominal wa l l defects and cystic hygroma at autopsy were 30.60 and 146.18 times, respectively, more likely for those cases terminated wi th a surgical method than wi th a medical method. Results that warrant consideration but were not statistically significant were found between the different termination procedures and the frequency of cases i n which diaphragm defects or structural heart defects were able to be evaluated at autopsy. Odds ratio analysis found that the odds of not being able to evaluate diaphragm defects or structural heart defects were 19.00 and 21.00 times, respectively, more l ikely for those cases terminated wi th a surgical method than wi th a medical method. The ability to evaluate these specific ultrasound-identified or -suspected abnormalities at autopsy were decreased when a surgical termination was performed. No association was found between the different termination procedures and the frequency of cases i n which anencephaly or fetal hydrops were able to be evaluated at autopsy. Testing for independence between the ability to examine ultrasound identified or suspected cystic kidneys at autopsy and the method of termination was not performed because i n a l l cases the kidneys were examined at autopsy. 67 The distribution of surgically terminated cases wi th specific ultrasound identified or suspected abnormalities by prenatal cytogenetics results and the estimated gestational age at termination is summarized i n tables 3.5 and 3.6, respectively. Statistical analysis was not performed as these comparisons were unlikely to be of importance. T a b l e 3.5 DISTRIBUTION OF SURGICALLY TERMINATED CASES WITH SPECIFIC ULTRASOUND-IDENTIFIED OR -SUSPECTED FETAL ABNORMALITIES BY RESULTS OF PRENATAL CYTOGENETIC INVESTIGATIONS Fe ta l Abnorma l i ty Tota l # of Cases W i t h Surgical T A T o t a l * of Cases A b n . Karyotype W i t h P N D of: N o r m a l Karyotype Abdomina l W a l l Defects 20 2 18 Tissue Not E x a m i n e d 8 1 7 Tissue E x a m i n e d 12 1 11 Anencephaly 13 1 12 Tissue Not E x a m i n e d 2 0 2 Tissue E x a m i n e d 11 1 10 Cyst ic Hygroma 51 17 34 Tissue Not E x a m i n e d 37 12 25 Tissue E x a m i n e d 14 5 9 Cyst ic K idney Disease 6 1 5 Tissue Not E x a m i n e d 0 0 0 Tissue E x a m i n e d 6 1 5 Diaphragm Defects 8 0 8 Tissue Not E x a m i n e d 4 0 4 Tissue E x a m i n e d 4 0 4 Fe t a l Hydrops 24 12 12 Tissue Not E x a m i n e d 4 1 3 Tissue E x a m i n e d 20 11 9 St ruc tura l Hear t Defects 23 6 17 Tissue Not E x a m i n e d 4 3 1 Tissue E x a m i n e d 19 3 16 68 Prenatal diagnosis of a chromosome abnormality was made i n 53 of the 230 cases, wi th 36 and 17 of the chromosomally abnormal cases terminated by a surgical and medical methods, respectively. The distribution of surgically terminated cases wi th specific ultrasound identified or suspected abnormalities by estimated gestational age at termination for cases terminated wi th a surgical procedure is summarized i n table 3.6. Table 3.6 DISTRIBUTION OF SURGICALLY TERMINATED CASES WITH SPECIFIC ULTRASOUND-IDENTIFIED OR -SUSPECTED FETAL ABNORMALITIES BY ESTIMATED GESTATIONAL AGE AT AUTOPSY F e t a l Abnorma l i t y T o t a l * of Cases W i t h Surgica l T A T o t a l * of Cases W i t h E G A at Autopsy of: 1 0 - 1 4 w k s 1 5 - 2 0 w k s 21 - 24 w k s Abdomina l W a l l Defects 20 2 15 3 Tissue Not E x a m i n e d 8 2 5 1 Tissue E x a m i n e d 12 0 10 2 Anencephaly 13 2 10 1 Tissue Not E x a m i n e d 2 0 2 0 Tissue E x a m i n e d 11 2 8 1 Cystic Hygroma 51 21 29 1 Tissue Not E x a m i n e d 37 18 19 0 Tissue E x a m i n e d 14 3 10 1 Cystic K i d n e y Disease 6 0 5 1 Tissue Not E x a m i n e d 0 0 0 0 Tissue E x a m i n e d 6 0 5 1 Diaphragm Defects 8 1 7 0 Tissue Not E x a m i n e d 4 1 3 0 Tissue E x a m i n e d 4 0 4 0 F e t a l Hydrops 24 ' 11 13 0 Tissue Not E x a m i n e d 4 2 2 0 Tissue E x a m i n e d 20 9 11 0 S t ruc tura l Hear t Defects 23 2 19 2 Tissue Not E x a m i n e d 4 0 3 1 Tissue E x a m i n e d 19 2 16 1 69 The average estimated gestational age at termination for the total group of 230 cases was 18.4 weeks (ranging from 10 - 36 weeks). The average estimated gestational age at termination for the surgical cases of 15.8 weeks (95% C.I. = 15.3 to 16.4 weeks) was found to be significantly different than the average estimated gestational age at termination for cases terminated wi th a medical procedure of 20.9 weeks (95% C.I. = 20.0 to 21.8 weeks). 3.5 Evaluation of CNS, Heart, Kidney at Autopsy Analysis A n objective of this thesis was to determine i f the method of termination influenced the ability to evaluate the C N S , cardiac structures and kidneys at autopsy. Accordingly, the autopsy findings for a l l of the cases included i n this thesis (521) were examined to assess whether these tissues were evaluated at autopsy. Table 3.7 summarizes the relationship between the ability to evaluate the C N S , heart and kidneys at autopsy against the method of termination. C h i square tests were performed to test for independence between the ability to evaluate the C N S tissue, the heart and the kidneys at autopsy and the method of termination. Statistically significant differences were found between the frequency of cases i n which the C N S tissue, the heart and the kidneys could be individually evaluated at autopsy and the different methods of termination (P « 0.00001, P < 0.00001, and P = 0.0005, respectively). Odds ratio analysis was performed to compare for the ability to evaluate the C N S tissue, heart and the kidneys at autopsy and the different methods of 70 termination. This analysis found that the odds of not being able to evaluate the C N S tissue, heart and the kidneys at autopsy were 36.20, 16.76, and 5.04 times, respectively, more l ikely for those cases terminated wi th a surgical method than wi th a medical method. The ability to evaluate the C N S tissue, the heart, and the kidneys is decreased when the pregnancy is terminated by a surgical method. Table 3.7 DISTRIBUTION OF CASES WITH CNS TISSUE, HEART, AND KIDNEY EXAM AT AUTOPSY BY THE METHOD OF TERMINATION Ability to Examine Tissue at Autopsy Total # of Cases Total # of Cases With Med. TA Surg.TA Odds Ratio 95% C.I. Chi square P-Value CNS Tissue Examined Not Examined 226 294 188 32 38 262 36.20 21.77 - 60.19 O.OOOOl* Heart Examined Not Examined 456 64 217 3 239 61 16.76 5.18 - 54.24 <0.00001* Kidneys Examined Not Examined 488 32 216 4 272 28 5.04 1.74 - 14.61 <0.00048* *Statistically significant results Autopsy reports described the examination, gross and/or histological, of the C N S i n 38 (12.7%) of the 300 cases terminated by a surgical method. The average estimated gestational age at termination for these cases was 18.2 weeks (95% C.I. = 17.4 - 19.0 weeks). The average estimated gestational age at termination for cases i n which the C N S tissue was not examined was 16.1 weeks (95% C.I. = 15.7 - 16.5 weeks). A description of the heart examination was reported i n 239 (79.7%) of the cases terminated by a surgical method. 71 The average estimated gestational age at termination for the cases in which the heart was not evaluated was 15.1 weeks (95% C.I. = 14.3 - 15.9 weeks) and for the cases in which the heart was evaluated was 16.7 weeks (95% C.I. = 16.3 - 17.1 weeks). The kidneys were reported to be evaluated in 272 (90.7%) of the 300 cases terminated by a surgical method. The average estimated gestational age at termination for the cases in which the kidneys were not evaluated was 14.2 weeks (95% C.I. = 13.1 - 15.3 weeks) and the cases in which the kidneys were evaluated was 16.6 weeks (95% C.I. = 16.3 -16.9 weeks). Table 3.8 summarizes the distribution of the ability to examine the CNS, heart and kidneys in cases terminated with a surgical method against the prenatal cytogenetic results. Statistical analysis is presented in section 3.6. Table 3.8 DISTRIBUTION OF SURGICALLY TERMINATED CASES WITH CNS TISSUE, HEART OR KIDNEY EXAMINATION AT AUTOPSY BY PRENATAL CYTOGENETIC RESULTS. Ability to Examine Tissue at Autopsy Total # of Cases With Surgical TA Total # of Cases With PND of: Abn. Karyotype Normal Karyotype CNS Tissue Tissue Examined Tissue Not Examined 38 262 10 135 28 127 Heart Tissue Examined Tissue Not Examined 239 61 102 43 137 18 Kidneys Tissue Examined Tissue Not Examined 272 28 126 19 146 9 Figure 3.2 summarizes the distribution of the ability to evaluate the CNS, heart and kidneys in cases terminated with a surgical method against 72 the estimated gestational age at autopsy. Statistical analysis is presented in section 3.6. Figure 3.2 DISTRIBUTION OF SURGICALLY TERMINATED CASES BY ESTIMATED GESTATIONAL AGE AT TERMINATION 50 T O C N T f C O O O O C N T f i-H r-1 .—I I CM CN CN EGA at Termination (weeks) 3.6 Results of the Strength of Relationships Analysis The final objective of this thesis is to measure the strength of relationships found among the variables. Mul t ip le logistic regression tests were performed wi th the response (dependent) variables set as: (1) the probability of a surgical termination; (2) the probability that the C N S tissue could be evaluated at autopsy in surgically terminated cases; (3) the probability that the heart could be evaluated at autopsy i n surgically terminated cases; and (4) the probability that the kidneys could be evaluated at autopsy i n surgically terminated cases. For each of the multiple logistic 73 regression tests, the explanatory (independent) variables were set as the results of prenatal cytogenetic investigations (abnormal or normal/unknown), and the estimated gestational age at termination, treated as a continuous variable. Cases with an estimated gestational age at termination of 25 + weeks were excluded from the tests because surgical terminations are not performed after 24 weeks of gestation in British Columbia. For tests in which the response variable was the probability of a surgical termination, cases in which the fetus was spontaneously aborted or miscarried - were excluded from this assessment. Table 3.9 summarizes the results of the logistic regression analysis. Table 3.9 RESULTS OF MULTIPLE LOGISTIC REGRESSION ANALYSIS - PART A Response Explanatory P 1 Sig. Odds 95% C.I. Variable Variable Ratio2 Lower Upper Probability of Surgical Normal Chromosomes 0.77 0.0006 2.17 1.39 3.39 Termination EGA at Autopsy (weeks) -0.33 <0.0001 0.72 0.66 0.78 Probability of Being Able To Abnormal Chromosomes 0.97 0.0142 2.65 1.22 5.79 Examine The CNS EGA at Autopsy (weeks) 0.23 0.0008 1.26 1.10 1.44 Tissue at Autopsy Probability of Being Able To Abnormal Chromosomes 1.06 0.0008 2.89 1.56 5.37 Examine The Heart EGA at Autopsy (weeks) 0.17 0.0012 1.19 1.07 1.32 at Autopsy Probability of Being Able To Examine The Kidneys EGA at Autopsy (weeks) 0.30 0.0001 1.35 1.15 1.58 at Autopsy !p is the explanatory variable coefficient calculated by SPSS statistical software. 2The odds ratio is calculated by expp and is the increment in the log odds of the probability of the response attributed to the explanatory variable. 74 The effect of interactions between the two explanatory variables (prenatal cytogenetics results and estimated gestational age at termination) was also assessed. No significant interactive effect between the prenatal cytogenetic investigations and the estimated gestational age at termination was found by the multiple logistic regression analysis. The prenatal diagnosis of a chromosomal abnormality and the estimated gestational age at termination were also assessed to determine i f a interrelationship between the two existed. No interrelationship between the two explanatory variables was found i n any of the multiple logistic regression tests that were performed. However, the explanatory variables individually were found to be significantly related to the response variables. The results indicate that a surgical termination was 2.17 (95% C.I. = 1.39- 3.39; P = 0.0006) times more l ikely to occur when the results of the prenatal cytogenetic investigations are abnormal than when the results are normal/unknown. For each one week increase i n the estimated gestational age at autopsy, a surgical termination was 0.72 (95% C.I. = 0.66 - 0.78 P < 0.0001) times less l ikely to have been used. The strength of the relationships between the ability to examine the C N S tissue at autopsy i n surgically terminated cases was also examined. C N S tissue examination at autopsy was 2.65 (95% C.I. = 1.22 - 5.79; P = 0.01) times more l ikely to occur i n surgically terminated cases when the results of the prenatal cytogenetic investigations are normal/unknown than when the 75 results are abnormal. For each one week increase in the estimated gestational age at termination, a CNS tissue examination at autopsy following surgical termination is 1.26 (95% C.I. = 1.1 - 1.44; P = 0.0008) times more likely to be achieved. Heart examination at autopsy was 2.89 (95% C.I. = 1.56 - 5.37; P = 0.0008) times more likely in surgical termination cases when the results of prenatal cytogenetic investigations were normal/unknown than when the results were abnormal. For each one week increase in the estimated gestational age at termination, a heart examination at autopsy following surgical termination is 1.19 (95% C.I. = 1.07 - 1.32; P = 0.0012) times more likely to be achieved. A kidney examination at autopsy in surgically terminated cases is 1.35 (95% C.I. = 1.15 - 1.58; P = 0.0001) times more likely for each one week increase in the estimated gestational age at termination. Two statistics are used to evaluate the significance of the relationship between the response variable and the explanatory variables in multiple logistic regression. SPSS statistical software calculates the initial -2 log-likelihood and model chi square for the multiple logistic regression model (the model considers all variations of the response variables and the explanatory variables). Table 3.10 summarizes the analysis of substantive significance. The R 2 L value indicates the percentage by which the multiple logistic regression formulas reduce the error of predicting the outcome of the response variable, i n comparison to predictions based on the mean of the response variable. In a l l cases the models are statistically significant. Table 3.10 RESULTS OF MULTIPLE LOGISTIC REGRESSION ANALYSIS - PART B Response Variable Initial -2 Log-likelihood Model Chi-Square R 2 L Probability of Surgical Termination 613.33 102.66 16.74% Probability of Being Able To Examine The CNS Tissue at Autopsy 223.58 20.39 9.12% Probability of Being Able To Examine The Heart at Autopsy 280.21 25.12 8.96% Probability of Being Able To Examine The Kidneys at Autopsy 185.716 16.985 9.15% 77 4 Discussion 4.1 Population of Cases The sample of 521 consecutive cases examined in this thesis was identified through an audit of clinician on-call records from the Provincial Medical Genetics Programme of British Columbia (PMGP). Inclusion in the study was based on the following criteria: prenatal diagnosis of a fetal abnormality had been made by ultrasound or cytogenetic investigations, a decision was made to terminate the pregnancy or the pregnancy resulted in a stillbirth, and consent had been given for fetal autopsy examination. As a consequence of limiting cases to those identified through the audit of prenatal on-call records, families that had chosen to terminate pregnancies due to fetal abnormalities and were not seen prenatally by clinicians from the PMGP were omitted. Ideally, cases should have been identified through an audit of embryofeto-pathology records. Prenatal karyotyping by chorionic villus sampling, amniocentesis, or cordocentesis was performed on 305 of the 521 cases and identified 204 of 255 (80%) chromosomally abnormal fetuses. The indications for prenatal karyotyping included advanced maternal age, previous live or stillborn infant with chromosomal abnormalities, abnormal maternal serum triple screening results, and detection by prenatal ultrasonography of some fetal abnormalities. The reasons for not performing prenatal cytogenetic investigations included the families' decision to terminate the pregnancy based on the ultrasound findings and the ultrasound identification of fetal 78 abnormalities unlikely to be due to chromosomal abnormalities (e.g. isolated neural tube defects). In the absence of prenatal karyotyping, post-termination karyotyping is essential for helping to establish an accurate diagnosis and recurrence risk for future pregnancies. Conventional karyotyping cannot be done when all fetal tissues are formalin fixed following the termination procedure. Formalin fixation of the fetus occasionally occurred when the fetus was terminated at a site other than B.C.'s Women's Hospital and was subsequently transferred to B.C.'s Children's Hospital for embryofeto-pathology studies. A recent investigation (Kyle et al., 1996) has reported a post-termination karyotyping culture failure rate of 27% when fresh fetal tissues are studied. The high failure rate was found to be related to the delivery-sampling interval - the median interval was 4 days - but not to the gestational age at termination, the tissue type sampled, or the use of potassium chloride. Post-termination karyotyping was performed on 446 cases examined in this thesis and yielded results in 410 (91.9%) of the cases. The delivery-sampling interval for the cases was not recorded as part of this thesis. No attempts were made to determine if the method of termination was related to the failure of prenatal karyotyping. Additionally, this assessment was biased by inclusion of cases with intrauterine fetal demise, as it has also been reported that the karyotype 79 culture failure rate is high following stillbirths (Smith, et al., 1990). For cases in which intrauterine demise was diagnosed at autopsy, the post-termination karyotyping culture failure rate was 33% (8 of 24) and overall accounted for 22% of the post-termination karyotyping culture failure. Obtaining a sample by amniocentesis for karyotyping just prior to the termination procedure may help assure that a fetal karyotype is successfully achieved. The difference between the prenatal karyotyping success rate (98.4%) and the post-termination karyotyping success rate (91.9%) was found to be 6.5%. The knowledge of this figure can be used to facilitate counseling of families who have decided to terminate the pregnancy based on ultrasound identified fetal abnormalities. Post-termination fetal karyotyping (92% success rate) may be performed with relative confidence, sparing the mother the from undergoing uncomfortable invasive prenatal karyotyping procedures. 4.2 Diagnosis Based on Autopsy Findings An objective of this thesis was to determine if the ability to base the diagnosis on autopsy findings was influenced by the method of termination. The results of the analysis (table 3.3) found that the ability to base a diagnosis on autopsy findings was 42 times more likely following medical termination procedures than following surgical termination procedures. Analysis was performed on cases with ultrasound-identified or 80 -suspected abdominal wall defects, anencephaly, cystic hygroma, cystic kidney disease, diaphragmatic defects, fetal hydrops, or structural heart defects. These cases were selected because the fetal abnormalities present represent defects in a broad range of fetal tissues. Chromosomally abnormal cases were excluded from this analysis, as the diagnosis and recurrence risk in these cases is determined by the karyotype and not the anatomical findings of the embryofeto-pathological examination. The nature of the diagnosis was not considered in this analysis (e.g. the diagnosis of unexplained multiple congenital abnormalities and the diagnosis of Fraser syndrome, if based on embryofeto-pathological examination findings, carried equal weight in the analysis). It should be emphasized that this analysis assessed the ability to base a diagnosis on autopsy findings, not the ability to make a diagnosis of a syndrome or cause in general. A couple's decision to terminate a pregnancy based on ultrasound findings is a decision that is made under uncertainty - without the benefit of complete or unambiguous information pertaining to the fetal abnormalities. Such decisions should be made after genetic counseling regarding the risks and benefits of the options available to the couple. Couples should be informed that the provision of recurrence risks are dependent on the accurate diagnosis of fetal abnormalities and inherited diseases. Couples should also be informed that the diagnoses provided by ultrasonography are not unequivocal and that many subtle abnormalities that may permit identification of a genetic syndrome are not apparent on ultrasound exam. 81 Discrepancies between ultrasound diagnosis and diagnosis after embryofeto-pathological examination due to the presence of anomalies not detected on ultrasound examination have been reported (Weston, et al., 1993; Shen-Schwarz, et al., 1989; and Julian-Reynier, et al., 1994). In light of the inability of ultrasound examinations to diagnose subtle fetal abnormalities, the gold standard for diagnosis of fetal abnormalities is embryofeto-pathological examination. Early gestational age, amniotic fluid abnormalities and multiple fetal abnormalities have all been reported to decrease the accuracy of ultrasound examinations (Chitty, et al., 1991; and Manchester, et al., 1988; Shen-Schwarz, et al., 1989; and Weston, et al., 1993). Couples should be informed that additional fetal abnormalities recognized at autopsy may provide important information that can affect the diagnosis of a syndrome, identification of the etiology or pathogenesis of the abnormality, and determination of the severity of the abnormality. Although no quantitative assessment has previously been reported, it is generally accepted that the ability to make a diagnosis is reduced following surgical termination procedures. My analysis supports this assertion and indicates that following surgical terminations, diagnoses must be based at least in part on ultrasound findings without embryopathological confirmation or full examination of the fetus. Consequently, couples should be informed that, with the exclusion of those fetuses with chromosomal abnormalities, the final diagnosis of the fetal malformation may be indeterminate or equivocal 82 without a complete embryofeto-pathological examination following pregnancy termination. This analysis was limited in that the reasons for the inability to base diagnoses on autopsy findings were not explained. It was likely that many of failures to base a diagnosis on autopsy findings were due to an inability to perform neuropathological examinations (see Table 3.7 for a summary of cases with CNS tissue examinations at autopsy). In a like manner, this analysis was limited as it included cases with a wide range of fetal abnormalities. Thus it was unknown if one type of abnormality overwhelmingly influenced the results, (e.g. failure to confirm ultrasound identified CNS abnormalities such as hydrocephalus). To avoid these potential biases, future analysis should be performed on samples with a narrow spectrum of fetal abnormalities, such as ultrasound-identified or -suspected dwarfism or neural tube defects, and the reasons for not being able to base the diagnosis on the autopsy findings should be identified. 4.3 Method of Termination Termination of pregnancy is an option available to couples following the identification of fetal chromosomal or structural abnormalities which may be lethal in nature or incompatible with normal life. Such couples should undergo genetic counseling in order to enable informed decision making. Elements of the genetic counseling session(s) may include a discussion of risks and benefits of the options available, including continuing 83 the pregnancy or terminating the pregnancy and methods of termination available. Once the decision to terminate the pregnancy has been made, i n most cases couples choose between pregnancy termination procedures, which may be categorized as medical (drug induced labour and delivery) or surgical terminations. The main potential advantages of a medical termination procedure include the ability to perform a complete embryofeto-pathological examination on the fetus following delivery and the potential for the couple to view and hold the fetus, a process which has been suggested to aid the grieving of parents (Kenyon, et al., 1988; Suslak, et al., 1995). The main disadvantages of a medical termination procedure is that the procedure requires labour and delivery; may be painful, although pain relief is given, exposes the mother to the psychological stress of labour and delivery, and has the potential for protracted labour. Alternatively, surgical terminations offer the advantages of taking less time and due to general or regional anesthesia, avoiding the pain involved i n medical procedures (Kaltreider, et al., 1979a). However, the main disadvantage of surgical terminations is that i n most cases a complete embryofeto-pathological examination is precluded as a result of the physical disruption of the fetus. A t present, a quantitative evaluation of the reasons for a couple's choice of termination procedure is not known. Knowledge of these figures may be used to facilitate genetic counseling of couples facing these decisions. 84 An objective of this thesis was to determine if the method of pregnancy termination was independent of: (1) the results of prenatal cytogenetics investigations, and (2) the estimated gestational age at termination. For those cases in which prenatal karyotyping identifies a chromosomal abnormality, the recurrence risk is determined by the karyotype, and a complete embryofeto-pathological examination is not required. Conversely, when prenatal cytogenetic investigation identifies a normal chromosome complement or prenatal cytogenetics investigations are not performed, a complete embryofeto-pathological examination is essential to establishing a diagnosis and a recurrence risk. Thus, it can be postulated that for the decision making process of couples who chose a surgical termination when the fetal chromosomes were found to be normal or were not known prior to the termination, the advantages of a surgical procedure outweighed the advantages of a medical procedure. A couple's ability to choose between termination procedures is limited by the gestational age at which the termination will take place. In Canada, surgical termination procedures may be prohibited by hospital boards. At British Columbia's Women's Hospital, surgical terminations are prohibited after 24 weeks of gestation and medical termination procedures are permitted past this point only in cases where prenatal diagnosis has identified a fetal abnormality that is lethal in nature. Prior to 24 weeks of gestation, if free from contraindications, couples most often choose between the medical and surgical procedures. 85 However, Kaltreider et al., (1979) reporting on physician's attitudes towards surgical terminations found that physicians who performed pregnancy terminations had an unfavorable attitude towards surgical terminations in the late second trimester. Thus, the demand for late second trimester surgical terminations may not be satisfied due to a dearth in physicians willing to perform such procedures. Multiple logistic regression was performed to analyze the relationship between the method of termination and the prenatal cytogenetic results or the estimated gestational age at termination. Analysis was limited to cases with an estimated gestational age at termination of 24 weeks and below. As well, cases in which the fetus was spontaneously aborted or miscarried were excluded from this assessment. Overall, 298 surgical terminations and 170 medical terminations were included in the analysis. The results of the multiple logistic regression, presented in table 3.9, indicate that both the prenatal cytogenetic finding and the estimated gestational age at termination are significantly related to the termination procedure, but that the interaction between the two independent variables was not related to the termination procedure. In other words, the odds ratio for the response variable, method of termination, and the explanatory variable, "estimated gestational age at termination", is not affected by the explanatory variable, "results of prenatal cytogenetic investigations". The probability of a surgical termination was found to be 2.17 (95% C.I. = 1.39 - 3.39; P = 0.0006) times more likely to occur when the results of 86 the prenatal cytogenetic investigations are abnormal than when the results are normal or unknown. One can conclude from this result that obtaining a specific diagnosis of the fetal anomalies that will allow accurate genetic counseling regarding recurrence risks seems to be a meaningful consideration for couples choosing between termination procedures. For each one week increase in the gestational age at termination, the probability of a surgical termination was found to be 0.72 (95% C.I. = 0.66 -0.78; P < 0.0001) times as likely to occur. Because the interaction between the two independent variables was not significant, one can conclude that regardless of the prenatal cytogenetic results, the probability that a couple will have a surgical termination procedure appears to decrease as the gestational age at termination increases. Factors which may have influenced which termination procedure was performed include: the physician's preferences, the availability of hospital beds required for medical terminations, and the growth of the couple's bond or attachment to the fetus as the gestational age increases. It appears, that at our center, there is a bias against performing medical terminations at early gestational ages. In order to determine the percentage by which the multiple logistic regression formula reduces the error of predicting the probability of a surgical termination, in comparison to predictions based on the mean of surgical terminations in the sample, the R 2 L value was calculated. An R 2 L value of 16.74% was found, thus indicating that the logistic regression formula provides a relatively small improvement in predicting the probability 87 of a surgical termination. It is therefore likely that factors other than the prenatal cytogenetic results and the estimated gestation age at termination have significant effects on the probability that a couple will choose a surgical termination procedure. Factors not assessed in this study that may have an effect include the individual patient's attitude towards the more painful and prolonged medical termination procedures, as well as the availability of physicians with training to perform middle and late second term procedures. An additional factor which may have biased the results was that the cases were not assessed to determine if contraindications for one of the termination procedures were present. However, contraindications to the termination procedures are rare. 4.4 Specific Fetal Tissues Evaluated at Autopsy The main disadvantage of surgical termination procedures is that a complete embryofeto-pathological examination is precluded as a result of physical disruption of the fetus. Following physical disruption and evacuation, the condition of the fetus may range from relatively intact fetal parts to extremely damaged fetal parts. However, embryofeto-pathology following surgical termination procedures has been suggested to provide information of value to genetic counseling, including confirmation of prenatal diagnosis and identification of abnormalities not seen on ultrasound examination. 88 Two reports describing the utility of embryofeto-pathological examinations following surgical termination procedures have been published by Klatt (1995) and Shulman, et al. (1990). Both of these investigations describe the identification of fetal abnormalities at autopsy that confirm prenatal ultrasound diagnosis and identify fetal abnormalities not apparent on ultrasound examination. However, these reports do not provide any indication regarding the amenability of the products of conception to autopsy examination. It remains unknown whether fetal abnormalities were undiagnosed at autopsy because they did not exist or because the disruption of the fetus precluded their identification. An objective of this thesis was to determine if fetal abnormalities exist that are resistant to the physical disruption of surgical termination procedures. Analysis was limited to cases with ultrasound-identified or -suspected fetal abdominal wall defects, anencephaly, cystic hygroma, cystic kidney disease, diaphragmatic defects, hydrops, and structural heart defects. The rationale for performing the analysis on cases with specific fetal abnormalities was that the affected tissues would be targeted for examination during the embryofeto-pathological examination. These specific fetal abnormalities were selected because they represented defects in a broad range of fetal tissues. Additionally, the ultrasound detection of these abnormalities, while not being highly sensitive for all the abnormalities, is uniformly highly specific (Levi, et al., 1994). 89 In this analysis, the embryofeto-pathology reports were examined to determine if the tissue that was found to be abnormal by the ultrasound investigations could be evaluated at autopsy. The results of the odds ratio analysis and the Fisher's exact tests (table 3.4) showed that the ability to examine the affected tissues at autopsy for ultrasound identified or suspected abdominal wall defects and cystic hygroma is significantly reduced when the pregnancy is terminated by a surgical procedure. Thus, it appears that the abdominal wall defects - gastroschisis and omphalocele - and cystic hygroma are not resistant to the physical disruption inherent to surgical terminations. As ultrasonography may not be able to discriminate between gastroschisis and a ruptured omphalocele, the importance of embryofeto-pathological examination to make a diagnosis is emphasized. The etiology of gastroschisis is usually sporadic, whereas omphalocele is often associated with chromosomal abnormalities or autosomally inherited syndromes; thus, the recurrence risks may potentially be substantially different. Therefore, knowledge that the ability to examine abdominal wall defects is reduced following surgical termination procedures is of use in genetic counseling, enabling couples to make informed decisions regarding their choice of termination procedure. Additionally, this analysis found that the frequency of cases in which the affected tissues were evaluated at autopsy for ultrasound-identified or -suspected diaphragm defects and structural heart defects, while not statistically significant (odds ratio = 19.00; 95% C.I. = 0.83 - 434.47; P = 0.03, 90 and odds ratio = 21.00; 95% C.I. = 1.08 - 409.15; P=0.01, respectively), appeared to be reduced when pregnancies were terminated with surgical procedures. For cystic hygroma, diaphragm defects and structural heart defects, as well as abdominal wall defects, the reduction in the ability to evaluate the affected tissue following surgical termination procedures brings about a reduction in the certitude of the final diagnosis and the recurrence risk offered to a couple. This reduction is because the diagnosis cannot be based solely on the findings of the "gold-standard" embryofeto-pathological examination but must depend largely or entirely on ultrasound findings. The inability to evaluate these tissues at autopsy following surgical terminations also gives rise to the possibility that abnormalities not seen on ultrasound examination wil l not be discovered at autopsy. Failure to find such features may result in failure to recognize a genetic syndrome with a substantial recurrence risk. It appears that the abdominal wall is highly susceptible to fragmentation, consequently reducing the ability to evaluate gastroschisis or omphalocele at autopsy following surgical termination procedures. It was not possible to differentiate between the susceptibility of gastroschisis and omphalocele to severe physical disruption. Likewise, it may be reasoned that the very nature of cystic hygroma, characterized by cysts of the lymphatic system occurring in the nuchal region, and diaphragmatic defects, characterized by the protrusion of some of the abdominal contents into the chest cavity through a defect in the 91 diaphragm, confers a susceptibility to fragmentation during surgical termination procedures. Final ly , this analysis found that for ultrasound-identified or -suspected anencephaly, cystic kidneys and fetal hydrops, there was no statistically significant difference between the ability to evaluate the affected tissues at autopsy and the pregnancy termination procedure. Therefore, it may be concluded that these fetal abnormalities are resistant to the physical disruption inherent to surgical termination procedures. The resistance of anencephaly to physical disruption is l ikely due to the nature of the defect itself. Due to the absence of the cranial vault, it is l ikely that less physical disruption of the affected fetal tissues is required for evacuation from the uterus and much of the C N S structures are already lost. The resistance of cystic kidneys to physical disruption is l ikely due to the kidney being a solid encapsulated organ, the location and the size of the kidneys. Their retroperitoneal location posterior to the peritoneum and on the posterior abdominal wa l l may confer resistance to physical disruption. Between 9 - 24 weeks of gestation, the size of the kidneys ranges from 0.8 mm to 24.5 mm i n length (England, 1996; and Bertagnoli, et al., 1983, respectively) and therefore may be more readily evacuated from the uterus. The ability to evaluate tissues affected by fetal hydrops following surgical termination procedures is due to the nature of the fetal abnormality. Fetal hydrops is marked by the accumulation of fluid i n the serous cavities and by 92 soft tissue edema in the fetus, hence even if fragmented, the subcutaneous tissues may be examined at autopsy for edema. In addition to examining the relationship between the ability to examine the affected tissues of specific fetal abnormalities at autopsy, the cases that were terminated by a surgical procedure were analyzed by estimated gestational age at termination and the prenatal cytogenetic investigation results. It can be postulated that the prenatal diagnosis of a chromosomally abnormal fetus will influence the surgeon to perform the termination procedure in such a way as to yield products of conception that are less amenable to embryofeto-pathological examination because the diagnosis and recurrence risk will be based on the karyotype and thus the necessity of a complete autopsy is diminished. It can also be postulated that the ability to examine tissues at autopsy following surgical termination procedures will be related to the gestational age termination, as the tissues become more fully formed and the structures firmer and the extent of cervical dilatation increases as gestation progresses (Munsick, and Fineberg, 1996). The gestational age at termination was divided into the following categories, 10-14 weeks, 15-20 weeks, and >21 weeks. The 10-14 weeks category accounts for those cases that were terminated with dilatation and curettage procedure, while the 15-20 week and >21 weeks categories were based on an arbitrary decision. 93 From observing these distributions it appears that neither the gestational age at termination nor the cytogenetic results are confounding factors in the ability to examine the affected tissues of specific ultrasound -identified or -suspected fetal abnormalities at autopsy following surgical termination procedures. However, limitations of these observations include the small number of cases examined and the coarseness of the gestational age groupings. The embryofeto-pathology reports were not examined to determine if the prenatal diagnosis was confirmed. Failure to confirm the prenatal diagnosis may be a result of false-positive ultrasound diagnosis or a result of the fragmented condition of the fetal parts precluding embryofeto-pathological examination. Such a bias is present in a report by Sinclair et al., (1996) that investigated the sensitivity of ultrasound screening for severe congenital heart defects in British Columbia. Embryofeto-pathology reports, fetal echocardiography reports, and neonatal cardiology reports were retrospectively examined for cases with specific structural heart defects in order to account for all ultrasound true positive cases and all fetal heart defects not seen by ultrasonography but found at autopsy or antenatal referral. However, they potentially overlooked cases in which severe congenital heart defects existed but the heart was not evaluated at autopsy, thus leading to a possible underreporting of false positive cases and an overestimation of the sensitivity of antenatal screening for severe congenital heart defects. This bias may be avoided by measuring the sensitivity of 94 ultrasound detection of fetal abnormalities in populations where all terminations of pregnancy are by means of medical procedures. 4.5 CNS, Heart, and Kidneys Evaluated at Autopsy An objective of this thesis was to determine if the ability to examine the CNS tissue, heart and kidneys at autopsy is influenced by: (1) the method of termination; (2) the results of prenatal cytogenetic investigations; and (3) the estimated gestational age at termination. In this analysis, the embryofeto-pathology reports were examined to determine if the CNS tissue, heart and kidney could be evaluated at autopsy. The results of Chi square analysis found that the ability to evaluate the CNS tissue, heart and kidneys at autopsy was significantly reduced following surgical termination procedures when compared to terminations by induction (table 3.7). These findings may be used to facilitate genetic counseling as they provide, for the first time, quantitative evidence that the ability to examine these organs at autopsy following surgical terminations is reduced - information that may help couples to make informed decisions regarding their choice of termination procedures. It should also be noted however, that following medical terminations or cases in which the fetus was spontaneously aborted or miscarried, the probability of evaluating these organs was not 100%. The inability to perform evaluations at autopsy in these rare cases appears to be due to severe autolysis, consequent to retention of the fetus following intrauterine demise. 95 Multiple logistic regression analysis was performed in order to determine if a relationship existed between the ability to evaluate the CNS tissue, heart, and kidneys at autopsy following surgical terminations and the results of prenatal cytogenetic investigations (table 3.8). This analysis (table 3.9) found that the ability to evaluate the CNS tissue and the heart at autopsy following surgical terminations was increased when the fetal karyotype was normal. No relationship between the prenatal cytogenetic results and the ability to evaluate the kidneys was found. Such a result is not unexpected as the kidneys were found to be resistant to the physical disruption of surgical termination procedures (table 3.4). It must be noted that the ability to evaluate these tissues by gross or histological examination and not the ability to make a diagnosis was under consideration in this analysis. From the results of this analysis, it appears that if the prenatal diagnosis is of a cytogenetic abnormality in which a recurrence risk can be offered prior to the termination, then the surgeon will perform a procedure which results in products of conception that are less amenable to thorough embryofeto-pathological examination. This may be due to the surgeon providing the fastest and most comfortable termination procedure for the patient. Conversely, in recognition of the need for detailed fetal examination when the results of the prenatal cytogenetic investigations are normal or unknown, it appears that the surgeon will perform a procedure which results in products of conception that are more amenable to thorough embryofeto-96 pathological examination. In order to provide further evidence for this claim, a future investigation which compares the ability to evaluate tissues at autopsy following surgical terminations for prenatally diagnosed chromosomally normal fetuses with and without ultrasound diagnosed isolated anencephaly can be performed. It is assumed that a diagnosis and recurrence risk can be offered prenatally for ultrasound diagnosed isolated anencephaly. This analysis has not controlled for the skill of the surgeons performing the termination procedures. Thus, these results are potentially biased by different surgeons performing terminations for cases with prenatally diagnosed chromosome abnormalities and terminations for cases with prenatally diagnosed normal chromosomes. The multiple logistic regression analysis also assessed the relationship between the ability to evaluate the CNS tissue, heart, and kidneys at autopsy following surgical terminations and the estimated gestational age at termination (figure 3.2). This analysis (table 3.9) found that there was a significant increase in the ability to evaluate these organs following surgical terminations as the gestational age at termination increased. It is likely that the increasing resistance to physical disruption is due to the tissues becoming more fully formed and the structures firmer as the gestational age increases. Additionally, it may be postulated that the increase in the ability to evaluate these organs at autopsy following surgical termination procedures is due to the extent of cervical dilatation which has been found to increase as gestation 97 progresses and with the number of cervical dilators used (Munsick, and Fineberg, 1996). The surgeon may be able to perform the procedure with greater dexterity as the extent of cervical dilatation increases, and therefore, the ease with which the uterus can be evacuated may be proportionately increased. In order to determine the percentage by which the independent variables reduce the error of predicting the probability of being able to evaluate these tissues, in comparison to predictions based on the mean of the value of being able to evaluate these tissues in the sample, the Revalues were calculated (table 3.10). The R 2 L values 9.12%, 8.96%, and 9.15% for CNS, heart and kidney, respectively, were found. These uniformly low reductions in error indicate that these variables provide relatively small improvements in predicting the probability of being able to evaluate these tissues at autopsy. It is therefore likely that factors other than the prenatal cytogenetic results and the estimated gestation age at termination have significant effects on the probability that these tissues will be able to be evaluated at autopsy following surgical termination procedures. In most cases, the estimated gestational age at termination used in this analysis was determined by foot length measurements as recorded on the autopsy report. No correction in gestational age was made for cases with severe growth retardation. The discrepancy between the true gestational age and the gestational age as measured by foot length may have had a confounding influence on this analysis. 98 The use of cervical dilators may potentially influence the relationship between the gestational age at termination and the ability to evaluate these tissues. Depending on the number of laminar ia or synthetic dilators used and the duration of use, the extent of cervical dilatation varies (Munsick, and Fineberg, 1996). Hence, the ability to evaluate these tissues at autopsy following surgical termination procedures may be related to cervical dilator uti l ization. Information regarding the uti l ization of cervical dilators was sought from the C . A . R . E programme at B.C. 's Women's Hospital . Only the total number of cervical dilators used in the surgical termination procedures of cases terminated between January 1 s t of 1995 to January 1 s t of 1996 was available. This information was of l imited value to this analysis as it did not indicate the size of the cervical dilators, duration of use, or whether they were used i n multiple sets. Future investigations enlisting the assistance of the surgeons performing the termination procedures may offer valuable insight into the relationship between the uti l ization of cervical dilators and the amenability of the products of conception to embryofeto-pathological examination. 99 5 Conclusion The results presented i n this study provide, for the first time, a quantitative assessment of the ut i l i ty of embryofeto-pathological examinations following surgical pregnancy termination procedures. When compared wi th medical pregnancy termination procedures, the amenability of the products of conception to embryofeto-pathological examination is reduced following surgical pregnancy termination procedures. Surgical termination was more likely to occur when the results of the prenatal cytogenetic investigations were abnormal than when the results were normal or unknown. This result indicates that the need for a complete embryofeto-pathological examination seems to be a meaningful element of the process by which couples choose between termination procedures. Surgical termination was found to be less l ikely to occur as gestational age progressed, regardless of prenatally diagnosed karyotype. No significant difference was observed between the ability to evaluate the tissues affected by anencephaly, cystic kidney disease, or fetal hydrops following surgical termination procedures versus medical termination procedures. These results indicate that fetal abnormalities exist that are resistant to the physical disruption inherent to surgical termination procedures. A significant reduction was observed between the ability to evaluate at autopsy the tissues affected by abdominal wa l l defects, or cystic hygroma following surgical termination procedures versus medical termination 100 procedures. While not statistically significant, similar reductions i n the ability to evaluate the tissues affected by diaphragmatic defects or structural heart defects were observed. These results indicate that some fetal abnormalities exist that are susceptible to the physical disruption inherent to surgical termination procedures. A significant increase i n the ability to evaluate the C N S tissue and heart at autopsy following surgical termination procedures was observed when comparing fetuses wi th prenatally diagnosed normal chromosomes and unkaryotyped fetuses to fetuses wi th prenatally diagnosed chromosomal abnormalities. These results indicate that the surgeon's recognition of the need for detailed fetal examination is an important determinant i n the amenability of the products of conception to embryofeto-pathological examination. A significant increase i n the ability to evaluate the C N S tissue, heart and kidneys at autopsy following surgical termination procedures was observed as the gestational age at termination increased. It is l ikely that the increasing resistance to physical disruption is due to the tissues becoming more fully formed and the structures firmer as the gestational age increases. 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A . , (1992) The Psychological Sequelae of a Second Trimester Termination of Pregnancy for Feta l Abnormality. Prenatal Diagnosis, V o l . 12, p. 189-204. Wilson, R .D. , Morrison, M . G . , Wit tmann, B . K . , and Coleman, G . U . , (1988) Cl in ica l follow-up of fetal urinary tract anomalies diagnosed prenatally by ultrasound. Fetal Therapy, V o l . 3, p. 141-151. Wilson, R .D. , Farquharson, D.F . , Wit tmann, B . K . , and Shaw, D., (1994) Cordocentesis: overall pregnancy loss rate as important as procedure loss rate. Fetal Diagnosis and Therapy, Vo l . 9, p.142-148. Wilson, R .D. , Johnson, J .A. , and Dansereau, J . , (1996) Pregnancy outcome following amniocentesis at 11 - 14 versusl6-19 weeks gestation. Obstetrics and Gynecology, V o l . 88 (4 Pt 1), p. 638-639. Witt , D.R., Hoyme, H . E . , Zonana, J . , Manchester, D .K . , Fryns, J .P. , Stevenson, J .G . , Curry, C.J.R., and H a l l , J .G . , (1987) Lymphedema i n Noonan Syndrome: clues to pathogenesis and prenatal diagnosis and review of the literature. American Journal of Medical Genetics, V o l . 27, p. 841-857. Yang, P., Beaty, T . H . , Khoury, M . J . , Chee, E . , Stewart, W., and Gordis, L„ (1992) Genetic-epidemiologic study of omphalocele and gastroschisis; evidence for heterogeneity. American Journal of Medical Genetics, V o l . 44, p. 668-675. Appendix I Dataform PMGP Chart No: Name: . Birth Date: Maternal Age: Maternal History (G, P, SA, S, L, N): PMGP Indication: Prenatal Karyotype: Ultrasound Chart No: Ultrasound Date: Gestational Age: Indication On Ultrasound Chart: Amniotic Fluid Abnormalities: Diagnosis: Disorder Classification: Obstetrical Chart No: Obstetrician: Termination Site: Termination Method: Pretermination Fetal Death Number of Laminaria: Duration of Laminaria: Extent of Cervical Dilation Tissues Examined at Autopsy: CNS: Vasculature: G.I.: Urinary: R e sp : Extremities: Heart: Placenta: Musculo -Skeletal: Investigations: Diagnosis: Pathology Chart No: Fetal Condition: Gestational Age: Multiple Gestation: _ Disorder Classification: Appendix II Code E G A No: D a t e s E G A U / S Ultrasound Findings 112 Amniotic Method Narrow D i agnos i s : Fluid oITA Code 1 756.18 Fe t a l S p i n e cannot be clear ly identified sugges t ing absen t oss i f i ca t ion 1 228.1 C y s t i c H y g r o m a Is Identified 1 756.08 C a l v a r i u m A p p e a r s Poo r ly O s s i f i e d 1 756.44 Imp: P robab le D i a g n o s i s i s A c h o n d r o g e n e s i s 1 T r a n s c e r v i c a l C V S 1 N o E v i d e n c e of Fe t a l A n o m a l i e s 15 15 740.02 A n e n c e p h a l i c Fe tu s is P re sen t N o Othe r A n o m a l i e s D e t e c t e d 32 + 3 32 + 3 32 + 3 3 2 + 3 32 + 3 32 + 3 3 2 + 3 3 2 + 3 3 2 + 2 wk 3 2 + 2 w k 3 2 + 2 wk 3 2 + 2 w k 3 2 + 2 w k 3 2 + 2 wk 3 2 + 2 w k 3 2 + 2 w k A b s e n t E n d Dias to l i c F l o w o n Doppler 754.88 Trunk » 90% cen t i l e due to 778.0 M a s s i v e A s c i t e s 778.0 H y d r o p s Stil l P r e sen t 748.69 R Lung C o m p r e s s e d 778.5 M a r k e d S c a l p E d e m a 511.9 L a r g e R S i d e d P leura l Effusion 778 5 M a r k e d A s c i t e s 19 19 16 + 5 16 + 5 16 + 5 16 + 5 16 + 5 16 + 5 16 + 5 1 8 + 1 w k 18 + 1 w k 18 + 1 w k 1 8 + 1 w k 1 8 + 1 wk 1 8 + 1 wk Fe ta l S i z e C o r r e s p o n d s to Da t e s C V S Transabdomina l ly 745 63 A V C a n a l Defect - 2 A V V a l v e s + Outflow A p p e a r s N C a r d i a c Defect Not o f Le tha l Nature 755.50 A b s e n t Midd le Pha lanx 5th Digit 755.38 Shor t F e m u r 756 os Flat Occ ipu t 753.20 M o d e r a t e R Hydronephros i s C a r d i a c S t ruc tu res d o not a p p e a r no rma l but t o o ear ly t o a s s e s s 746 so Heart in R C h e s t Fe t a l S i z e i s C o n s i s t e n t W i t h Da t e s L Thorax O c c u p i e d by S t o m a c h a n d B o w e l 756.68 R Hemid iaphragm a p p e a r s intact 753.20 Bi la tera l Di la ta t ion o f R e n a l P e l v i s L Hemidaphragm not Demons t ra tab le 2 c m P o s t e r i o r W a l l F i b r o i d 762.8 M o d e r a t e S i z e d A r e a o f M e m b r a n e S e p e r a t i o n T r a n s c e r v i c a l C V S 10 + 4 10 + 4 15 + 1 5 + 10 + 6 11 11 1 1 + 2 10 13 + 4 16 + 1 wk 16 + 1 wk L a r g e F ib ro id 10 x 10 c m L s ide of Uterus In L o w e r S e g . btwn fetus & ce rv ix - P o s s i b l e risk for obst . of labour C V S for D N A Stud ies Only 742.9 Sp ine and Intracranial Deta i l A p p e a r Norma l N o A n o m a l i e s S e e n Fe ta l S i z e C o r r e s p o n d s with D a t e s 785 D Fe t a l T a c h y c a r d i a 744.68 N u c h a l Th icken ing 778.5 G e n e r a l i z e d S u b c u t a n e o u s E d e m a Fe ta l S i z e C o r r e s p o n d s with Da t e s T r a n s c e r v i c a l C V S 12 12 778.0 S e v e r e H y d r o p s P robab le C h r o m o s o m a l Anoma ly 744.88 S m a l l N u c h a l M e m b r a n e S e e n (Likely Var iant of Normal) 753.20 M i l d Bi la tera l Hydronephros i s 742 s N o Other Intracranial of Sp ina l A n o m a l i e s S e e n 742.48 Sp lay ing of the Cerebe l lum 742.39 Mi ld Vent r icu lomegaly 742 48 Enlargement of C i s t e r n a M a g n a S i z e = Ul t rasound Da te s 2 7 + 3 2 7 + 3 2 7 + 3 754 82 Fe t a l C h e s t S i z e - 2 3 W k s ( L o w e r E n d of Normal) 751 6 L ive r Echogen ic i ty Mildly Increased - ? Ear ly Finding 761.2 S e v e r e Ol igohydramnios Appendix II Ultrasound Findings E G A D a t e s E G A U / S Amniotic Method Fluid of TA Narrow Code: D i a g n o s i s : 2 7 * 3 26 4 2 K i d n e y s Do Not A p p e a r G r o s s l y En la rged , K i d n e y s difficult to s e e a s borders indi 12 + 6 1 3 + 1 , , T o o early for g o o d ana tomic detai l 12 + 6 1 3 + 1 1 1 N o e v i d e n c e of significant nucha l e d e m a (2mm) or other abn. for gest . age 12 + 6 1 3 + 1 1 1 G e n e t i c A m n i o c e n t e s i s , s ingle tap for c lea r fluid ( F H +ve after) 12 + 6 1 3 * 1 1 762.8 T h e amnion a p p e a r s to still be s e p e r a t e d circumferentially 1 4 - 1 5 1 4 - 1 5 Fe tus , Fluid , P l a c e n t a Norma l 16 3 1 753.8 Bladder S e e n 16 3 1 753.3 Kidney ' s S e e n 16 3 1 761.2 M o d e r a t e Ol igohydramnios 14 , , T o o Ear ly to Eva lua t e Fe t a l Deta i l 14 ' 1 G e n e t i c A m n i o c e n t e s i s 16 , , 764.9 Fe ta l Biometry at - 10%cent i le for G e s t A g e 16 1 1 Fe ta l Deta i l l imited due to fetal s i ze 16 1 Fe ta l Deta i l l imited due to maternal body wal l 10 + 1 , 4 Fe ta l S i z e C o r r e s p o n d s wi th M e n s t r a l Da t e s 15 • 1 1 2 Fe ta l S i z e Cons i s t en t wi th D a t e s 1 6 + 1 15 + 1 w k 1 2 Apparent ly Norma l G e s t a t i o n at 15 + 1 wk by U / S 16 16 + 1 wk < ' N o A n o m a l i e s S e e n 1 6 * 2 1 2 741.01 Probable M i l d , Symmet r i ca l Hydrocepha lus 16 + 2 1 2 741.01 A s s o c i a t e d Arno ld -Chia r i Malformat ion 1 6 * 2 1 2 755.6 L o w e r L imbs A p p e a r to m o v e Ac t ive ly 16 + 2 1 2 N o Other Fe t a l Abnormal i t ies 1 6 * 2 1 2 741.01 A High T h o r a c o - L u m b a r M e n i n g o m y e l o c e l e 12 + 3 1 1 S u c c e s s f u l Ear iy A m n i o c e n t e s i s 12 + 3 , 1 Fe ta l S i z e C o r r e s p o n d s wi th M e n s t r a l Da t e s 20 + 1 1 2 511.9 Bila tera l P leura l Effus ions 20 + 1 1 2 Internal O r g a n s A p p e a r Norma l a n d Comple t e 20 + 1 1 2 778.5 G e n e r a l i z e d S u b c u t a n e o u s E d e m a 20 + 1 1 2 778.5 M i l d A s c i t e s 10 + 3 1 1 Fe ta l S i z e C o r r e s p o n d s to D a t e s 10 + 3 < ' S u c c e s s f u l C V S 10 + 5 1 2 Fe ta l S i z e C o r r e s p o n d s with M e n s t r a l D a t e s 10 + 5 1 2 P e r o x i s o m a l Act iv i ty T e s t s on C V S t i s sue 16 1 2 Like ly Abnormal Hear t 16 1 2 740.08 C a l v a r i u m Not F o u n d 16 1 2 742.09 E n c e p h a l o c e l e P re sen t 16 1 2 742.58 Abnormal Appea r ing Sp ine 22 1 1 753,16 Smal l E c h o g e n i c and D y s p l a s t i c K i d n e y s 22 1 1 740.01 A c r a n i a 2 2 1 1 511.9 R Pleura l Effusion 2 2 1 1 749.12 Midl ine Cleft L ip 2 2 1 1 756.15 Hemiver tebrae at T 1 2 10 + 5 1 1 Fe ta l S i z e C o n e s p o n d s wi th M e n s t r a l Da t e s 13 + 4 12 + 5 2 4 761.2 M i l d Ol igohydramnios 1 3 * 4 12 + 5 2 4 Probably N Growth B a s e d on L M P 13 + 4 12 + 5 2 4 13 wk S i z e d Fe tu s 13 + 4 12 + 5 2 4 778,0 Fetus with upto 5 mm Thick G e n e r a l i z e d T i s s u e E d e m a Cons i s t en t with Hydrops 13 + 4 12 + 5 2 4 Deta i l ed Fe t a l Ana tomy Not Y e t R e a d i l y A s s e s s a b l e 15 1 1 Fe ta l Intracranial St ructures Difficult to A s s e s s Due to P o s i t i o n 15 1 1 754.20 M a r k e d S c o l i o s i s 15 1 1 756.18 S p i n e Defec t ive from lower tho rac i c segments down 15 1 1 754.22 H y p e r e x t e n s i o n o f the T h o r a c i c R e g i o n 10 1 1 Fe ta l S i z e C o r r e s p o n d s W i t h M e n s t r a l Da t e s 16 + 2 1 5 + 1 wk 1 2 G e n e t i c A m n i o c e n t e s i s 16 + 2 15 + 1 wk 1 2 N o A n o m a l i e s S e e n T o d a y 1 756.17 Dysplastic Develop'nt of Sacrum c Apparently Absent S3-5 & Hypoplastic S1-2 segments raising the poss'y of Partial SacraJ Agar Appendix II Ult rasound Findings 114 Code E G A E G A Amniotic Method Narrow D i a g n o s i s : No: D a t e s U / S Ftud of TA Code. 16 1 1 753 3 Feta l K i d n e y s are Poor ly S e e n 16 1 1 C a r d i a c S c a n , Ai l V e i n s S e e n a n d A p p e a r Norma l 16 1 1 741.94 L o w e r E n d of S p i n e Is Not W e l l S e e n But A p p e a r s T o B e E n c l o s e d (ie. Smal l S a c r a l S p i n a Bifida) sues 17 1 5 + 1 w k 1 1 741.98 L u m b o s a c r a l M e n i n g o m y e l o c e l e 17 15 + 1 w k 1 1 764.9 S l o w Fe ta l G r o w t h at 10%cent i l e for da te s 17 15 + l w k i 1 Extremi t ies A p p e a r Norma l 31261 17 16 + 1 wk 2 2 778.5 A s c i t e s P resen t 17 16 + 1 wk 2 2 778 0 G e n e r a l i z e d S e v e r e Hydrops 17 1 6 + 1 w k 2 2 N o Other A n o m a l i e s S e e n 33277 15 + 2 i 2 744.88 W e b P o s t e r i o r to the N e c k S e e n in Multiple V i e w s 15 + 2 1 2 758.00 Imp: D o w n ' s S y n d r o m e (Obst ruc t ive Jugular Lymphat ic S y n d . a s s o c i a t e d with cong . anomal i e s 31281 16 15 + 1 wk 1 2 G e n e t i c A m n i o c e n t e s i s ' 16 15 + 1 w k 1 2 744.9 F e t a l F a c e Not Adequa te ly A s s e s s e d T o d a y 16 15 + 1 w k 1 2 4 C h a m b e r Heart V i e w Not Adequa te ly A s s e s s e d T o d a y 35420 18 + 2 1 1 742.39 Midl ine Struct 's not under p ressure sugges t ing 1° deform'n problem a s o p p o s e d to obs t ruc t ive h y d r o c e p h . 18 + 2 i 1 758.10 Imp: C h r o m o s o m e Anoma ly ? T 1 3 18 + 2 1 1 742.28 ? P o s s i b l e Absen t V e r m i s 18 + 2 1 1 742.23 ? P o s s i b l e Absen t Cerebe l lum 18 + 2 i 1 742.39 S e v e r e Vent r icu lomegaly 18 + 2 i 1 756.08 H e a d Enlarged - 21 -22 w k s in s ize 18 + 2 1 1 742.48 N o Pos te r io r B r a i n St ructures S e e n 35439 17 + 6 1 2 741.05 L o w e r Lumbar M e n i n g o c e l e 17 + 6 1 3 741.05 E v i d e n c e o f H y d r o c e p h a l u s 35444 20 + 3 4 2 753.3 N o O b v i o u s R e n a l St ructures S e e n 2 0 + 3 i 2 Spec i f i c D i a g n o s i s Not P o s s i b l e - sugges t au topsy fol lowing del ivery 20 + 3 4 2 S e v e r e Fe t a l A n o m a l i e s , Le tha l anomal i e s s e e n 2 0 + 3 4 2 761.2 N o Amnio t ic Fluid P resen t 2 0 + 3 4 2 754 82 C h e s t S e v e r e l y C o m p r e s s e d 2 0 + 3 4 2 778.0 M a s s i v e Fe t a l A s c i t e s 35468 17 1 2 756.08 H e a d S h a p e Is U n u s u a l - L e m o n S i g n S e e n 17 1 2 756.1 Structurally the S p i n e L o o k e d Norma l 35470 21 4 3 761.2 S e v e r e Ol igohydramnios 21 4 3 742.48 Abnormal P o s t e r i o r F o s s a 21 4 3 742.39 Intracranial Deta i l Is Abnormal with En la rged Ven t r i c l e s 21 4 3 742.48 B a n a n a S i g n - Cerebe l lum 21 4 3 756.08 L e m o n S i g n 21 3 753.16 Fe ta l K i d n e y s Bilateral ly A p p e a r D y s p l a s t i c wi th Multiple S m a l l C y s t s (Pot ters T y p e IV) 21 4 3 759.7 Imp: M C A - Le tha l O u t c o m e 21 4 3 753.8 Bladder Not S e e n ? Ruptured 21 4 3 778.5 M o d . - S e v e r e A s c i t e s (Urinary A s c i t e s ) 21 4 3 759.84 P o s s i b l e ? S i r enome l i a 21 4 3 759.84 L o w e r L i m b s Not Demons t ra ted to M o v e Sepe ra t e ly (? F u s e d ) 35478 14 12 + 5 1 2 228.1 P o s t e r i o r N u c h a l H y g r o m a 14 12 + 5 1 2 758.69 Imp: Like ly Turners (or Noonan ' s ) 14 12 + 5 1 2 778.5 M i l d E d e m a (probably ear ly hydrops) 14 12 + 5 i 2 753.9 C y s t i c M a s s in L o w e r A b d . a n d Bladder (prob. en la rged bladder 2° to lower G . U . T . Obs t ruc t ion 35613 1 1 + 5 1 1 Fe ta l S i z e C o r r e s p o n d s W i t h M e n s t r a l Da t e s 31611 16 1 5 . 5 + 1 w k i 2 742.48 Multiple S m a l l C y s t i c S p a c e s in Bo th C h o r o i d P l e x u s e s (largest 3mm) 31631 17 1 2 742.48 Bila tera l S m a l l C h o r o i d P l e x u s C y s t s 17 1 2 N o Other A n o m a l i e s S e e n 17 i 2 755.61 L Foo t Not S e e n 17 1 2 755.38 L L o w e r L e g - T i b / F i b Ha l f Norma l Length 17 1 2 754.73 R L e g - C lub Foo t 35635 16 1 5 + 1 w k 1 1 N o Other A n o m a l i e s S e e n T o d a y 16 15 + 1 w k 1 1 740.02 A n e n c e p h a l y 744.88 N u c h a l E d e m a Doppler fo A V v a l v e s Difficult B e c a u s e of M o v e m e n t of Fe tu s 764 9 L imb Length 2 w k s behind da tes 745 63 Poss ib i l i ty o f S m a l l A V S e p t a l Defect R e m a i n s 746.88 Pe r i ca rd i a l Effusion 29 29 29 G e n d e r Not S e e n MuRicys t i c D y s p l a s t i c K i d n e y s N o Bladder S e e n Appendix I I E G A D a t e s E G A U / S Ultrasound Findings 115 Amniotic Method Narrow D i a g n o s i s : Fluid of TA Code: 761.2 S e v e r e Ol igohydramnios , A F I = 0 16 + 3 16 + 3 1 740.02 W h a t L o o k s Like A n e n c e p h a l y 1 756.08 Since the boney base of the post, cranial fossa seems to be present I doubt acranium or other amniotic band syndrome with acranium Intracranial S t ruc tures & S p i n e A p p e a r Norma l 16 + 4 16 + 4 16 + 4 16 + 4 18 + 1 wk 18 + 1 wk 18 + 1 wk 1 8 + 1 wk 1 8 + 1 w k 756.08 H e a d - L e m o n S i g n 742 48 Ce rebe l l um - B a n a n a S i g n 741 S a c r a l M e n i n g o c e l e 741.01 S u s p i c i o u s for A m o l d - C h i a r i Mal format ion N o Othe r A n o m a l i e s S e e n B r a i n St ructures A p p e a r to B e P re sen t 74001 Var iant of A c r a n i a , with a b s e n c e of par ie ta l a n d occ ip i t a l skull bones 741.01 C h a n g e In S h a p e of Cerebe l lum to Sugges t A s s o c i a t e d A m o l d - C h i a r i Malformat ion 741.01 M i l d H y d r o c e p h a l u s i s P re sen t 755 6 L o w e r Limb M o v e m e n t is O b s e r v e d 741.06 A L o w e r S a c r a l M e n i n g o c e l e i s P re sen t N o Othe r A n o m a l i e s A r e S e e n 753.01 L K i d n e y not s e e n 761.2 S e v e r e Ol igohydramnios 753.16 R Fe t a l K i d n e y En la rged wi th Multiple C y s t s 2 2 + 3 2 2 + 3 21 + 2 w k s 21 + 2 w k s 21 + 2 w k s 21 + 2 w k s 21 + 2 w k s 21 + 2 w k s 754.78 ? e v e r s i o n L Foo t 753 20 L Fe ta l Hydronephros i s 755 52 L wrist s e e m s to be flexed ove r forearm 755 51 H a n d s not s e e n opening during the s c a n Profile not wel l s e e n today 754 78 R Foot appea r s fixed in dorsif lexion 2 3 2 3 2 3 2 3 754.82 756.08 All L o n g B o n e s Abnormal ly S h a p e d Imp: Like ly Thana tophor ic Dwar f i sm N o Othe r A n o m a l i e s S e e n Fe ta l S i z e Appropr ia te for D a t e s S e v e r e l y Cons t r i c t ed C h e s t Fronta l B o s s i n g ATI L o n g B o n e s 2 0 mm, - 16 w k s s ize M i l d Ol igohydramnios Fe t a l S i z e C o r r e s p o n d s wi th M e n s t r a l Da t e s 17 17 17 15 + 1 wk 1 5 + 1 wk 1 5 + 1 wk 764.9 I U G R - 2 w k s behind in growth 778.0 G e n e r a l i z e d M i l d Fe t a l H y d r o p s 761.2 M o d e r a t e Ol igohydramnios 2 0 20 20 2 0 2 0 2 0 764.9 Fe t a l S i z e at 10th%cent i le for D a t e s 778.0 A s c i t e s 761.2 M o d . - S e v e r e Ol igohydramnios 778.0 Hydrop ic Fe tu s 228.1 S e v e r e C y s t i c H y g r o m a , Mult iple, L a r g e Fluid Fi l led Structure surrounding neck and ches t 778.5 S k i n E d e m a 2 2 2 2 2 2 22 2 2 2 2 2 2 2 2 2 2 2 2 2 2 756.61 753.20 753.01 C i s t e m a M a g n a is prominent but m e a s u r e within normal range C a r d i a c S c a n : R Atrium + Vent r ic le » than L , probably c o m p r e s s i o n defect rather than structural 1 c m diameter bilateral choro id plexus c y s t s Ce rebe l l um A p p e a r s Norma l C a r d i a c S c a n : Outflow tracts appear N C a r d i a c S c a n : M e d i a s t i n a l S t ruc tu res D i s p l a c e d t o R L Fe t a l K i d n e y T o d a y A p p e a r s Mul t i cys t i c C o r d o c e n t e s i s - S ingle Attmept w a s S u c c e s s f u l / F H +ve after Diaphragmat ic Hern ia - S t o m a c h i s in the C h e s t C a v i t y a n d Heart is D i s p l a c e Pos ter ior ly to right Fe t a l R e n a l P e l v e s a re Prominent wi th the L > R R K i d n e y Difficult to S e e D u e to Fe t a l P o s i t i o n 1 8 + 1 1 8 + 1 16 + 1 wk 16 + 1 wk N o Othe r Fe t a l A n o m a l i e s Identified M o d e r a t e S i z e C y s t i c H y g r o m a i s P re sen t (Hygroma 34 x 14 mm) C V S , T ransabdomina l - S u c c e s s f u l 2 6 - 2 9 2 6 - 2 9 2 6 - 2 9 2 6 - 2 9 2 6 - 2 9 2 6 - 2 9 N o Other A n o m a l i e s S e e n 742.39 Imp: H y d r o e n c e p h a l y or S e v e r e Hydr ocepha ly 764.9 Fe t a l A g e by F e m u r - 26 w k s 764.9 Fe t a l A g e by Trunk S i z e - 29 w k s 742.28 N o C o r t i c a l T i s s u e Identified 742.39 S e v e r e Di la t ion of Bo th Ven t r i c l e s Appendix II E G A D a t e s E G A U / S Ultrasound Findings Amniotic Method Narrow D i a g n o s i s : Fluid of TA Code: 22 22 7612 S e v e r e Ol igohydramnios A m n i o c e n t e s i s - 2nd Attempt - min. a m i o f fluid, d i scon t inued due to patient in to lerance 20 + 3 2 0 + 3 2 0 + 3 2 0 + 3 2 0 + 3 16 + 2 16 + 2 16 + 2 27 27 2 7 2 7 2 7 21 + 2 w k s 21 + 2 w k s 21 + 2 w k s 21 + 2 w k s 21 + 2 w k s 1 9 + 1 w k 1 9 + 1 w k 11 + 4 d 11 + 4 d 11 + 4 d 2 3 - 2 4 2 3 - 2 4 2 3 - 2 4 2 3 - 2 4 2 3 - 2 4 n to lie outside the al 756 08 The H e a d C o u l d Not B e S e e n W e l l 755 61 P robab le Rockerbo t tom Deformity is sugges ted , L foot 754 73 Clubfoot , R fOOt 751 5 R C o l o n is D i s t ended with Fluid 553.1 Defect is an Omphalocele rather than Gastroschisis (Aid Wall Oef is Present) liver a small bowel si 511.9 S m a l l P leura l Effus ions 778.0 A s c i t e s 778 5 M o d e r a t e S e v e r e S k i n E d e m a 228 1 S e v e r e C y s t i c H y g r o m a N o Other A n o m a l i e s S e e n A m n i o c e n t e s i s Fe t a l C a r d i a c , S p i n a l a n d Other Ana tomy A p p e a r Norma l 553 1 A M o d e r a t e to Large Ompha loce l e is Presen t with the L i v e r a n d s o m e of the smal l b o w e l extruded N o Othe r A n o m a l i e s S e e n 742 39 S e v e r e Hydrocepha lus 778 5 S e v e r e S k i n E d e m a Involving the Entire Fe tus 228.1 L a r g e C y s t i c H y g r o m a Presen t 764 9 Fe t a l S i z e D o e s Not C o r r e s p o n d to Da te s 764.9 Fe t a l S i z e 2 3 - 2 4 w k s , S e v e r e 745 59 A S D 746.1 A b n Tr i cusp id V a l v e 75248 ? A m b i g u o u s Gen i t a l i a 747.5 2 V e s s e l C o r d 16 + 1 14 + 6 , 2 750.7 S t o m a c h Not S e e n 16 + 1 14 + 6 i 2 756.19 S p i n e W i d e n s in N e c k A r e a 16 + 1 14 + 6 1 2 740.01 A b s e n c e o f Fe t a l Skul l (Acrania) 13 + 3 1 4 + 1 wk , 2 744.88 N u c h a l E d e m a with a Prominent S k i n Line That Ex tends Along the Sp ine 13 + 3 1 4 + 1 wk 2 A d n e x a l M a s s i s S e e n (Incidental F inding, Maternal ) 17 + 2 1 9 + 1 wk , 1 742.30 Imp: Obs t ruc t ive L e s i o n of the Aqueduc t of S y l v i u s 17 + 2 1 9 + 1 wk i 1 742.5 S p i n e A p p e a r s Intact 17 + 2 19 • 1 wk i 1 4 C h a m b e r and Shor t A x i s V i e w of Hear t A p p e a r s Norma l 17 + 2 19 + 1 wk 1 1 747.5 2 V e s s e l C o r d i s S e e n 17 + 2 19 + 1 wk 1 1 742.39 C e r e b r a l Man t l e 0.5 c m in th i ckness (thin) 17 + 2 19 + 1 wk i 1 742.39 3rd Vent r ic le i s A l s o Di la ted with a Diamete r of 0 .3 c m 17 + 2 19 + 1 wk 1 742.39 S e v e r e D e g r e e of Symmet r i c H y d r o c e p h a l u s P re sen t ( L V R - 77%) 20 2 778.0 A s c i t e s A p p e a r Inc reased F r o m Y e s t e r d a y 20 i 2 789.3 Aspi ra t ion of Fe t a l Intra-Abdominal C y s t ( ?Bladder , ? U r a c h a l C y s t ) 20 1 2 No Pe r i ca rd i a l Effusion S e e n T o d a y ? 1 9 + 1 wk , 2 N o Other A n o m a l i e s S e e n ? 1 9 + 1 wk i 2 755.88 Abnormal ly S h a p e d L L o w e r L e g B o n e ? 1 9 + 1 wk 1 2 742.39 M o d e r a t e H y d r o c e p h a l u s 1 1 + 6 1 1 Fe ta l S i z e C o r r e s p o n d s T o M e n s t r a l D a t e s 18 + 2 16 + 6 3 1 761.2 M i l d to M o d . Ol igohydramnios 18 + 2 16 + 6 3 1 764.9 S e v e r e As ym m et r i c I U G R 17 + 2 1 2 741.01 S m a l l S a c r a l M e n i n g o c e l e 17 + 2 1 2 741.01 M i l d H y d r o c e p h a l u s 17 + 2 1 2 741.01 Arno ld -Chia r i Mal format ion 18 , 2 778 0 M i l d Fe t a l G e n e r a l i z e d Hydrops 18 1 2 427,8 Frequent E p i s o d e s of B r a d y c a r d i a 18 1 2 762.28 Abnormal ly Th ick P l a c e n t a (5cm) 18 1 2 Imp: V e r y Likely C h r o m o s o m e Anoma ly 18 1 2 746 99 Abnorma l Hear t 18 1 2 553.1 Smal l Ompha loce l e 18 2 764.9 All L o n g B o n e s are < 10%cent i l e (15-16 wk s ize ) 12 + 6 < 4 Fe ta l S i z e C o r r e s p o n d s wi th M e n s t r a l D a t e s 12 + 4 < 1 228.1 C y s t i c H y g r o m a - c y s t i c structure extending from the occ iput to midthorac 17 4 , 753.00 Imp: Bi la tera l R e n a l A g e n e s i s 17 4 1 Unab le to S e e A n y Fe ta l R e n a l St ructures Appendix II E G A D a t e s E G A U / S Ultrasound Findings 117 Amniotic Method Narrow D i agnos i s : Fluid ofTA Code: 761.2 S e v e r e Ol igohydramnios 17 17 756.79 Fe ta i A b d o m e n i s D i s t ended 778.0 Subs tan t ia l A s c i t e s 511 9 P leura l Effusion 778.5 Subs tan t ia l L y m p h E d e m a in the Trunk 228.1 Subs tan t ia l C y s t i c H y g r o m a B e h i n d the N e c k and Cran ium 17 + 5 17 + 5 17 + 5 16 + 1 wk 16 + 1 wk 16 + 1 wk N o Other A n o m a l i e s W e r e S e e n Although Deta i l ed Fe t a l C a r d i a c U / S Shou ld B e D o n e at - 18 w k s Afid. Wei Defect {? Omphalocele) seen today. It's wel circumscribed & meas. 13x15x16 cm & doasni contain tvar. spleen or stomach 2 w e e k d i s c r e p a n c y b e t w e e n U / S s ize a n d M e n s t r a l D a t e s 13 + 5 13 + 5 742.5 Sp ine Not Identifiable A Pulsa t ing Structure (heart)( 152/min) is s e e n in what a p p e a r s to be hanging outs ide 755.88 4 L imbs S e e n G r o s s l y A b n * Short Long B o n e s Not Individually Identified 756.08 H e a d S e e n , G r o s s l y Norma l in S h a p e N o Norma l Abdomina l O r g a n s Identified 753.00 753.8 S e v e r e Ol igohydramnios Norma l Fe t a l G r o w t h for Da t e s R e e v a l u a t i o n for 2 1/2 hrs fai led to s h o w renal t i s sue Imp: R e n a l A g e n e s i s R e e v a l u a t i o n for 2 1/2 hrs fa i led to s h o w bladder 21 21 21 2 0 + 2 w k s 2 0 + 2 w k s 2 0 + 2 w k s 2 0 + 2 w k s N o Othe r A n o m a l i e s S e e n M i l d R C lub Foo t M e n i n g o m y e l o c e l e (La rge S p i n a l Defect , R e a c h i n g from T 1 2 to Sac rum) S e v e r e L C lub Foo t S u c c e s s f u l C V S ? F ib ro id (5 .5x5x3 .5 cm) s e e n in post , a s p e c t o f uterus just a b o v e C x 16 + 1 wk 16 + 1 wk 16 + 1 wk 16 + 1 wk N u c h a l A r e a i s T h i c k e n e d S m a l l A r e a That L o o k s C y s t i c and Probab ly R e p r e s e n t s a smal l C y s t i c H y g r o m a The Heart C o u l d Not B e S e e n W e n T o d a y N o Other Fe t a l A n o m a l i e s S e e n T o d a y Fe ta l S i z e Appropr ia te for Da t e s 19 + 3 19 + 3 19 + 3 19 + 3 19 + 3 19 + 3 19 + 3 19 + 3 17 17 17 17 761.2 771,2 742,23 742.39 778.0 751.88 S e v e r e Ol igohydramnios Imp: Sugges t V i r a l Infection +/- C h r o m o s o m a l Anoma ly N o obv ious Limb, Sp ina l , (?) , or R e n a l A n o m a l i e s S m a l l Ce rebe l l um (12 mm o b s . v s 19 mm exp.) Prominent C e r e b r a l Ven t r i c l e s ( ? Ear ly Vent r icu lomegaly) Pe r i ca rd i a l Effusion S m a l l Bi la tera l P leura l Effusions C o n s i d e r a b l e Fe t a l A s c i t e s Hepa tosp l enomega ly 24 + 3 24 + 3 24 + 3 2 4 + 3 2 4 + 3 778.5 S c a l p E d e m a 778.0 A s c i t e s , e tc . . . 778.0 Significant i n c r e a s e in H y d r o p s 779.9 N o F H or M o v e m e n t s 779.9 Imp: Intrauterine D e m i s e S i z e Appropr ia te for da tes C V S - First Attempt S u c c e s s f u l 2 0 2 0 2 0 2 0 2 0 753.34 Fe t a l K i d n e y s > 90th %cent i le for da tes K i d n e y s V e r y E c h o g e n i c 753.8 N o Bladder S e e n 761.2 S e v e r e Ol igohydramnios 762.2B 2 P l acen t a l C y s t s - 2 c m in diameter wi th e c h o g e n i c a r e a ins ide 12 + 6 12 + 6 11 + 3 d 11 + 3 d Norma l G r o w t h a n d Fluid Soft T i s s u e E d e m a surrounding the entire fetus, cons is ten t wi th hydrops G e n e t i c A m n i o c e n t e s i s 2 3 + 2 2 3 + 2 2 3 + 2 2 3 + 2 2 3 + 2 N o Othe r Demons t ra tab le A b n 755.20 C o m p l e t e A b s e n c e o f Bo th Upper L imbs 755,39 Rudimentary & Di so rgan i zed L o w e r L imbs , Bilaterally 755.39 A n 8 mm L o n g F e m u r a n d C r o s s S e c t i o n of T ib /F ib w e r e c lear ly s e e n o n o n e s ide of the fetus 747,5 2 V e s s e l C o r d is P resen t 753.32 Fetal Kid. maybe more intenor in tocofn raising the poss. of Horseshoe Kid, (more medial loc of infr poles than their sup'i 740.08 N o E v i d e n c e o f a Norma l C r a n i u m 756.14 T h e C e r v i c a l S p i n e w a s a l s o abn . wi th widening of interpedicular d i s t ance nea r the b a s e o f the skull Appendix II Ul t rasound Findings 118 Code E G A E G A Amniotic Method Narrow D i a g n o s i s : No: Date s U / S Fluid or TA Code: 36992 1 5 + 6 1 1 742.48 Cerebe l lum S h o w s B a n a n a S i g n cons is ten t wi th C a u d a l Hern ia t ion 1 5 + 6 1 1 741.94 Smal l S a c low on sac rum, cons is ten t with small s a c r a l sp ina bifida 36993 19 18 1 2 18 W k S i z e d Fe tus 19 18 1 2 740.02 A n e n c e p h a l u s 19 18 1 2 N o Other A n o m a l i e s S e e n 37114 ? 2 0 + 2 1 1 742.26 Imp: ? L o b a r Ho lop rosencepha ly /7 Va r i a t i on of Norma) Ana tomy ? 2 0 + 2 1 1 742.48 Prominent C h o r o i d P l e x u s Bilateral ly ? 2 0 + 2 1 1 742.48 Prominent Cor t i ca l Structure Bridging Midl ine Anteriorly 37134 16 + 6 1 2 Imp: R i s k of C h r o m o s o m a l Et io logy 2 0 - 3 0 % 16 + 6 1 2 744.88 N u c h a ! E d e m a 16 + 6 1 2 553.1 Smal l Ompha loce l e 16 + 6 1 2 756.17 S a c r a l C o c c y g e a l T e r a t o m a 16 + 6 1 2 Not Able to Vi sua l i ze 4 C h a m b e r Heart s o m a y h a v e C H D a s wel l 37154 12 1 1 + 3 1 1 778.5 G e n e r a l i z e d S u b c u t a n e o u s E d e m a 12 1 1 + 3 1 1 778,0 S o m e S u g g e s t i o n o f Fluid in C h e s t C a v i t y 12 1 1 + 3 1 1 228.1 Conf i rmed C y s t i c H y g r o m a 37164 12 + 3 ' 1 Fe ta l S i z e Appropr ia te Fo r D a t e s 12 + 3 1 1 228.1 Cystic swelling, consist, c CysOc Hygroma, in post (dorsal) aspect of fetal head that eidandeds to the level of the abd. (post.) $7166 11 12 + 5 1 S u c c e s s f u l C V S 19 1 8 + 1 wk 1 1 741.98 L u m b o s a c r a l S p i n a Bifida P resen t Beginning at - L 2 and continuing to S a c r u m 19 1 8 + 1 wk 1 1 742.48 Cerebe l l um Deformed Hern ia ted into F o r a m e n M a g n u m 19 1 8 + 1 wk 1 1 756.08 H e a d S h a p e A l s o A b n - L e m o n S i g n 19 1 8 + 1 wk 1 1 754.50 At L e a s t O n e Foot wi th Ta l ipes Equtnovarus 37132 18 1 7 + 1 wk 1 1 742.08 4 x 8 mm pos te r ior e n c e p h a l o c e l e , no neural t i s sue s e e n 18 17 + 1 wk 1 1 N o Other A n o m a l i e s S e e n 18 1 7 + 1 wk 1 1 Intracranial S t ruc tures A p p e a r Norma l 37304 14 1 1 778,0 G e n e r a l i z e d Fe t a l H y d r o p s 14 1 1 511.9 Pleura l Effus ions 14 1 1 778.5 G e n e r a l i z e d S k i n E d e m a 14 1 1 778.5 A s c i t e s 14 1 1 746,88 Per i ca rd i a l Effus ions 37326 17 + 5 1 1 N o other anomal i e s s e e n 17 + 5 1 1 742.00 L a r g e E n c e p h a l o c e l e in Occ ip i t a l A r e a in wh ich most o f the poster ior brain structure are herniat ing 37327 16 17 + 1 wk 1 2 744.88 S k i n o v e r the pos te r ior nucha l reg ion i s prominent 16 17 + 1 wk 1 2 N o other a n o m a l i e s are s e e n 37341 2 2 + 3 1 2 756.08 D e p r e s s e d N a s a l Br idge 22 + 3 1 2 764.9 C h e s t C i r cumfe rence <5%centi le for G e s t a t i o n a l A g e 22 + 3 1 2 755.88 Femur , Humerus , T ib ia , + F i b i a a r e all short 22 + 3 1 2 756.08 Fronta l B o s s i n g 22 + 3 1 2 756.44 Probab le Thana tophor ic Dwar f i sm with short ches t a n d limbs 37370 2 8 4 2 C o r d o c e n t e s i s 2 8 4 2 753,16 Unila tera l L a r g e C y s t i c D y s p l a s t i c K i d n e y 2 8 4 2 Normal Fe t a l G r o w t h 2 8 4 2 Amnioinfus ion 2 8 4 2 761.2 Prost tn Injection wi th s o m e difficulties due to s e v e r e o l igohydramnios 37392 2 0 4 2 753,00 N o K i d n e y s - R e n a l A g e n e s i s L ike ly 2 0 4 2 761.2 S e v e r e OPgohydramnios 37397 19 + 6 1 2 744.88 Abnormal N u c h a l Th icken ing 19 + 6 1 2 N o Other A n o m a l i e s S e e n 19 + 6 1 2 524.0 M i l d Mic rogna th i a 19 + 6 1 2 755.88 Foo t M o v e m e n t s S e e n - Bo th Th ighs a p p e a r to be In f ixed flexion 19 + 6 1 2 754.22 A c u t e Angula t ion o f S p i n e at M i d - T h o r a c i c L e v e l 19 + 6 1 2 Normal F i n g e r s / F e e t / C o r d / C o r d Insertion 19 + 6 1 2 753,20 Bila tera l M i l d Fe t a l Hydroneph ros i s 37399 2 1 + 4 2 2 764.9 H e a d C i rcumfe rence < 5%cent i l e 2 1 + 4 2 2 553.1 S m a l l Ompha loce l e 2 1 + 4 2 2 C y s t i c Structure in L Thorax , ? B o w e l , ? S t o m a c h 2 1 + 4 2 2 746.80 T h o r a x s h o w s Hear t D i s p l a c e d to R 2 1 + 4 2 2 Probab le C h r o m o s o m a l A n o m a l y 2 1 + 4 2 2 742.39 C r a n i a l ven t r i c l es a p p e a r prominent (? Ear ly Ventr icutomegaly) with dependent pos i t ion to cho ro id p lexus 2 1 + 4 2 2 756.61 Diaphragmat ic Hern ia 2 1 + 4 2 2 756.08 A b n . H e a d S h a p e , E longa te , Bi la tera l Pa r i e t a l Indentations Appendix II Ultrasound Findings 119 Code E G A E G A Amniotic Method Narrow D i a g n o s i s : No: Date s U / S Fkjid ol TA Code: 31406 16 + 2 17 + 1 w k 1 1 G e n e t i c A m n i o c e n t e s i s - G o o d T a p for C l e a r Fluid 17613 18 + 3 16 + 1 w k 1 1 778.5 M a r k e d G e n e r a l i z e d Fe t a l S k i n E d e m a 18 + 3 1 6 * 1 wk 1 1 228.1 Large C y s t i c H y g r o m a with Col l i P resen t nen 16 + 1 1 2 742.5 S p i n e not wel l s e e n due to fetal pos i t ion 16 + 1 1 2 N o Fe ta l Abnormal i t ies S e e n 1 6 + 1 1 2 Normal Growth and Fluid 31616 1 5 * 5 1 1 N o A n a m o l i e s are S u s p e c t e d 15 + 5 1 1 Techn ica l ly Difficult to A s s e s s Fe t a l Ana tomy 15 + 5 1 1 M a n y Fe ta l Deta i l s C a n n o t be S e e n Adequa te ly 37631 13 1 1 ?? Uter ine F ib ro id C y s t = 6 c m s i z e 1 3 1 1 ?? Anter ior Con t rac t ion of Uterus 13 1 1 228 1 P o s s i b l e C y s t i c H y g o r m a , Though no S e p t a e S e e n ) 13 t 1 778.5 Significant E d e m a 13 1 1 778 0 Imp: Ear ly Fe t a l H y d r o p s 31640 1 1 * 1 1 1 U / S Conf i rms M e n s t r a l Da t e s 31663 16 1 1 Apparent ly Norma l G e s t a t i o n 31630 1 4 * 3 1 2 755.35 Short Femur for G e s t . A g e 1 4 * 3 1 2 744 88 Thick N u c h a l A r e a 14 + 3 1 2 Imp: Sugges t ing A P o s s i b l e T r i somy 14 + 3 1 2 553.1 S m a l l Ompha loce l e 31601 17 1 1 755.28 Both Rad i i a r e Hypop las t i c 17 1 1 553 1 M a s s i v e Ompha loce l e containing l iver 17 1 1 742.23 Hypop las t i c Cerebe l l a r H e m i s p h e r e s wi th Fluid co l lec t ion in poster ior f o s s a 17 1 1 524,0 Microgna th i a 17 1 1 756 02 Hyper te lo r i sm 17 1 1 754.78 S o l e s are rounded 17 1 1 754 78 H e e l s are Prominent 17 1 1 755 88 Tib ia a n d Ftbia S e e m Short 17 1 1 755 51 R a d i c a l D e v i a t i o n of O n e H a n d 37706 15 1 1 742 48 C y s t o m a M a g n a A p p e a r s S o m e w h a t Bulky 15 1 t N o Definite Fe t a l A n o m a l i e s 31114 18 1 1 742.26 A l o b a r Ho lop rosencepha ly wi th Monoven t r i cu la r C a v i t y 18 1 1 742.26 N o Midl ine C e r e b r a l St ructures 18 1 1 742 48 P o s s i b l y F u s e d Tha lami 18 1 1 Difficult S c a n due to Ma te rna l Obes i t y 31716 32 5 3 761.3 M i l d Po lyhyd ramn ios 3 2 5 3 746.88 Smal l Amount of Pe r i ca rd i a l Effusion 32 5 3 751.10 Duodena l A t r e s i a (Double Bubble Sign) 31717 10 t 1 Fe ta l S i z e C o r r e s p o n d s with M e n s t r a l D a t e s 37713 22 4 2 753.20 Bila tera l S e v e r e Hydroneph ros i s 22 4 2 761.2 S e v e r e Ol igohydramnios 22 4 2 753 29 Bila tera l Hydroure te rs 2 2 4 2 753.88 S e v e r e l y D i s t ended Bladder 31150 15 13 1 2 S e v e r e Cran i a l Anoma ly 15 13 1 2 Likely A n e n c e p h a l y wi th Large Pos te r io r E n c e p h a l o c e l e o r Ininencephaly 31132 15 1 1 228 1 C y t i c H y g r o m a 15 t 1 778,5 S e v e r e D e g r e e of Fe t a l E d e m a , extending d o w n entire length of the fetal body 15 1 1 A m n i o c e n t e s i s at tempted 2 X , unsucces s fu l 15 1 1 Placen ta l B i o p s y under U / S gu idance succes s fu l 15 1 1 Fe ta l S i z e Appropr ia te F o r D a t e s 37760 17 + 3 15 1 1 759.89 Impress ion: N e u L o x o v a S y n d r o m e 17 + 3 15 1 1 754.73 S u s p i c i o n of R Clubbed Foo t 17 + 3 15 1 1 745.49 V S D ve ry likely 17 + 3 15 1 1 755.51 A b n P o s i t i o n o f F inge r s 17 + 3 15 1 1 755.19 S y n d a c t y l y Strongly S u s p e c t e d 17 + 3 15 1 1 778.5 S m a l l D e g r e e o f S k i n E d e m a 17 + 3 15 1 1 764.9 S y m m e t r i c a l I U G R 17 + 3 15 1 1 742.23 Abnorma l Ce rebe l l um 17 + 3 15 1 1 742.21 C o r p u s C a l l o s u m Not Identified 31171 2 0 21 + 2 w k s 1 2 778.5 N u c h a l E d e m a , e d e m a extends o v e r ches t wal l 2 0 21 • 2 w k s 1 2 Imp: C h r o m o s o m e s ? , V i r a l ? , S t o r a g e ? , Dwar f i sm Var iant ? Appendix II Ul t rasound Findings 120 E G A E G A Amniotic Method Narrow D i a g n o s i s : D a t e s U / S Fluid of TA Code: 20 21 + 2 w k s 1 2 755.88 L i m b s Global ly Short 2 0 21 + 2 w k s 1 2 M y o c a r d i u m more e c h o g e n i c than normal 2 0 21 + 2 w k s 1 2 762 28 P l a c e n t a wi th Dys t roph ic Ca lc i f i ca t ions 2 0 21 + 2 w k s 1 2 754.50 Bila tera l T a l i p e s Equ inovar ius 16 1 2 778.0 S e v e r e Fe t a l H y d r o p s 17 1 2 L Outflow L o o k s Norma l 17 1 2 P r o g n o s i s guarded with longterm pall iat ion pos s ib l e 17 1 2 Smal l D e g r e e of Pu lmonary Artery F l o w 17 1 2 746.1 P o o r T r i cusp id M o t i o n 17 1 2 Abnorma l 4 C h a m b e r V i e w of Hear t 17 1 2 746 88 Hypoplas t i c R Vent r i c le 18 2 2 756.71 A typ ica l G a s t r o s c h i s i s i s present wi th herinal orifice to the R and inferior to umbil ical inser t ion 18 2 2 762.1 M i l d Ol igohydramnios 2 2 0 2 753 13 Letha l T y p e P o l y c y s t i c Kidney D i s e a s e 2 2 0 2 753.34 Fe ta l K i d n e y s Larger than Te rm S i z e L M P ? 18 , , 756.79 Abdomina l Soft T i s s u e s A r e Abnormal ly Protuberant L M P ? 18 1 1 754.22 Sp ine exhibi ts s e v e r e angular deformaty in the c r a n i o c e r v i c a l junct 'n & in the L o w e r T h o r a c i c reg ion L M P ? 18 1 1 742 32 A m o r p h u s Tubular Part ial ly Fluid St ructures wh ich likely represent fea tures o f Hydranencepha ly L M P ? 18 1 ' N o C r a n i a l Vaul t c a n be De l inea ted 19 + 4 1 2 741.01 Apparen t M i l d A m o l d - C h i a r i Mal format ion 19 + 4 1 2 742.39 Late ra l C e r e b r a l Ven t r i c l e s a re 2 0 mm wide 19 + 4 1 2 741.01 Probab ly S m a l l Dis ta l L u m b a r - S a c r a l S p i n a Bif ida 19 + 4 1 2 742.39 S e v e r e , Roughly S y m m e t r i c a l Hydrocepha lus 19 + 4 1 2 742.39 3rd C e r e b r a l Ven t r i c l e s a re 5-6 mm dilated 32 2 9 + 6 5 2 742.09 Ext rac ran ia l B r a i n T i s s u e , L i k e E n c e p h a l o c e l e 3 2 2 9 + 5 5 2 756 14 C e r v i c a l Sp ine S e e m s A b n , in Structure a n d Curva tu re 3 2 29 + 5 5 2 755.88 Only T w o Limbs W e r e S e e n 3 2 2 9 + 5 5 2 743.57 V e r y Smal l Orbit 3 2 2 9 + 5 5 2 743.8 Asymmet r ica l ly P l a c e d E y e 3 2 29 + 5 5 2 742 48 Intracranial B r a i n T i s s u e is D i so rgan ized and Deficient 3 2 29 + 5 5 2 755.51 O d d P o s i t i o n of F ingers in one hand 3 2 29 + 5 5 2 756 08 N o n o s s i f i e d Skul l 32 2 9 + 5 5 2 762.8 Stands o f M e m b r a n e a re A t t a c h e d to the Smal l Apparent ly N o n o s s i f i e d Skul l 32 2 9 + 5 5 2 761.3 M i l d Po lyhyd ramn ios 32 29 + 5 5 2 762.8 Probabi l i ty o f Amnio t i c B a n d S y n d r o m e involving fetal head , including f a c e 3 2 29 + 5 5 2 743.67 T h e Orbits S e e m A s y m m e t r i c a l in S i z e 2 0 1 2 N o Other A n o m a l i e s S e e n 2 0 1 2 740.02 A n e n c e p h a l u s 16 1 1 Normal Growth /F lu id /Fe ta l Ana tomy 17 + 2 6 1 778.5 S c a l p E d e m a 17 + 2 6 1 228.1 S m a l l C y s t i c H y g r o m a noted 17 + 2 6 1 761.3 M o d e r a t e Po lyhyd ramn ios 18 , , Deta i l Difficult to V i s u a l i z e due to Ma te rna l Obes i t y 18 1 1 744.88 N u c h a l E d e m a i s P re sen t 18 1 1 Fe ta l S i z e Appropr ia te for D a t e s 22 2 0 + 1 wk 1 2 764.9 Fe ta l S i z e at 10%cent i l e for da te s 22 2 0 + 1 wk 1 2 759.89 Imp: likely G e n e t i c S y n d r o m e (eg. F a n c o n i A n e m i a , T . A . R . , or Isolated P h o c o m e l i a ) 22 2 0 + 1 wk 1 2 762.28 P l a c e n t a A p p e a r s Bulky (may be due to contract ion) 22 2 0 + 1 wk 1 2 755.50 L Thumb Not W e l l S e e n 22 2 0 + 1 wk 1 2 753.20 M i l d Dila ta t ion o f L R e n a l P e l v i s 2 2 2 0 + 1 wk 1 2 755.26 A b s e n t R a d i u s , Shor t Ulna 2 2 20 + 1 w k 1 2 755.51 L A r m A b n - marked radia l dev ia t ion o f hand 2 3 4 2 761.2 S e v e r e Ol igohydramnios 2 3 4 2 753.16 L A b d o m e n either Large C y s t i c Duplex K i d n e y or 2 K i d n e y s both C y s t i c (largest c y s t 14 mm) 2 3 4 2 N o K i d n e y s S e e n R S i d e 2 3 4 2 753 8 N o Bladder S e e n 2 3 4 2 N o Other A n o m a l i e s S e e n 20 + 2 , ^ 754.73 R Club Foo t 20 + 2 1 1 553.1 Abnorma l Fe tu s with a n Intact O m p h a l o c e l e 2 0 + 2 1 1 P o s s i b l e C h r o m o s o m e Abnormal i ty 10 + 3 1 1 S u c c e s s f u l C V S N o Fe t a l Abnormal i t i e s S e e n Appendix II Ul t rasound Findings 121 Coda E G A E G A A/nrnotic: Melhod Narrow D i a g n o s i s : No: D a t e s U / S FK*d o! TA Coda: 1 1 + 3 1 1 S u c c e s s f u l C V S 16 1 2 N o Fe ta l Abnormal i t ies S e e n 38117 2 5 2 2 1 2 741.01 A m o l d - C h i a r i T y p e o f Malformat ion 2 5 2 2 1 2 742.39 Ventr icu lomegaly 2 5 22 1 2 741.01 Strongly S u s p e c t e d S a c r a l Defec t 38130 10 + 5 1 1 Fe ta l S i z e C o r r e s p o n d s wi th Da t e s 38136 19 + 5 1 2 756.61 M a s s i v e L Diaphragmat ic H e m i a 19 + 5 1 2 746.80 R S i d e d Disp lacemen t o f the Hear t 38148 21 1 2 Normal Fe t a l Growth F o r D a t e s 21 1 - 2 N o Other A n o m a l i e s S e e n 21 1 2 740.02 A n e n c e p h a l i c Fe tu s 38181 10 + 3 11 + 3 d 1 2 Transabdomina l C V S - Single tap for adequate t i s sue 38186 15 12 + 5 1 2 748.51 Both Lungs S e e m S m a l l (R Lung 1/3 expec t ed s ize , L lung 1/2 e x p e c t e d s i z e 15 12 + 5 1 2 Sing le , Fe tus , 1 2 - 13 w k s s ize 15 12 + 5 1 2 778.5 G e n e r a l i z e d S u b c u t a n e o u s E d e m a - V e r y Prominent 15 12 + 5 1 2 748.51 Sugges t ing Le tha l Pulmonary H y p o p l a s i a 15 12 + 5 1 2 Normal G r o w t h a n d Fluid 15 12 + 5 1 2 T o o Ear ly for De tec t ion o f O r g a n Deta i l s 38261 16 1 1 N o A n o m a l i e s S e e n 38270 1 1 + 3 1 1 Fe ta l S i z e C o r r e s p o n d s to D a t e s 38313 15 + 6 1 1 N o E v i d e n c e of Fe t a l A n o m a l i e s 38321 16 1 2 742,26 Both Twins H o l o p r o s e n c e p h a l y 16 1 2 756.08 Both Twins P robab le P r o b o s c i s 16 1 2 743.67 T w i n A Single Orbit 16 I 2 753.20 Both Twins Hydroneph ros i s 16 1 2 553.1 Twin A Ompha loce l e 16 1 2 755.00 Twin A P o s s i b l e Po lydac ty ly 16 1 2 744.88 Both Twins Nucha l Th icken ing 38322 19 21 1 2 755.65 Femurs <5%centi le 19 21 1 2 754 40 Femurs C u r v e d 19 21 1 2 756.34 R i b s A p p e a r Short a n d Thorax appea r s Smal l 19 21 1 2 755.54 R a n d L Humerus are C u r v e d 19 21 1 2 756.44 Imp: Shor t L i m b e d D w a r p h i s m ? ? Asphba'ating in type 19 21 1 2 755,88 All L o n g B o n e s a re Shor te r T h a n E x p e c t e d <5%centi le 19 21 1 2 755.63 T i b / F i b <5%centi le 19 21 1 2 755.88 Trunk C i rcumfe rence a n d H e a d M e a s u r m e n t s = 21 w k s 38324 14 + 2 1 1 744,88 Diffuse N u c h a l E d e m a 14 + 2 1 1 778.5 S u b c u t a n e o u s E d e m a O v e r S c a l p a n d Thorax 14 + 2 1 1 Probab le C h r o m o s o m e A b n ( T 2 1 , T 1 8 , 4 5 X ) 38329 16 + 6 1 2 778.0 Fe ta l H y d r o p s 16 + 6 1 2 228.1 L a r g e C y s t i c H y g r o m a 16 + 6 1 2 778.5 S u b c u t a n e o u s E d e m a 16 + 6 1 2 511.9 ' Pleura l Effus ions 16 + 6 1 2 753.20 L Fe t a l Hydroneph ros i s 16 + 6 1 2 753.32 P o s s i b l y a H o r s e s h o e K i d n e y 16 + 6 1 2 R K i d n e y Not S e e n 16 + 6 1 2 M a n y Deta i l s C o u l d Not B e V i s u a l i z e d Proper ly 16 + 6 1 2 778,0 A s c i t e s 38330 19 + 1 17 + 1 wk 1 2 The C r a n i a l Vault Is Absen t But Bra in T i s s u e A p p e a r s T o B e P re sen t 19 + 1 1 7 + 1 wk 1 2 Imp: Probab le A c r a n i a or C o u l d B e A Var iant o f A n e n c e p h a l y 1 9 + 1 17 + 1 wk 1 2 N o Other A n o m a l i e s S e e n 38345 27 24 1 2 N o Other A n o m a l i e s De tec t ed 27 24 1 2 740.02 Both F e t u s e s A n e n c e p h a l i c 38348 19 + 2 1 2 755.88 M o s t Likely Represen t ing a Fo rm of Ar throgrypos i s 19 + 2 1 2 778.5 S e v e r e , G e n e r a l i z e d S u b c u t a n e o u s E d e m a 19 + 2 ' 1 2 755.88 Abnormal P o s i t i o n of A r m s and L e g s 19 + 2 1 2 Hear t Ana tomy Not W e l l S e e n D u e to Fe ta l P o s i t i o n 19 + 2 1 2 511.9 Bila tera l P leura l Effusion 19 + 2 1 2 N o Fe ta l M o v e m e n t S e e n During E x a m 19 + 2 1 2 750.7 S t o m a c h Not S e e n 38349 19 1 2 741.94 Definite S a c r o - C o c c y g e a l M e n i n g o m y e l o c e l e Appendix II Ultrasound Findings 122 Coda E G A E G A Amniotic Method Narrow D i a g n o s i s : No: D a t e s U / S FlucJ oITA Code: 19 1 2 Difficult S c a n due to Ma te rna l Abdomina l W a l l 19 1 2 742 48 B a n a n a S i g n in Ce rebe l l um 19 1 2 742 23 Cerebe l l um Smal le r than E x p e c t e d for G e s t . A g e 33356 1 3 * 4 1 1 75548 Probab le M i c r o m e l i a 13 + 4 1 1 756.08 Skul l i s Poo r ly Mine ra l i zed 1 3 * 4 1 1 742.39 H y d r o c e p h a l u s - Di la t ion o f 3rd a n d La te ra l Ven t r i c l e s 13 + 4 1 1 756.08 Skul l h a s Abnormal C l o v e r l e a f S h a p e 13 • 4 1 1 755 88 4 L i m b s are M a r k e d l y Shor t 1 3 + 4 1 1 756 44 Obvious ly Affected by a Shor t -L imbed D w a r f S y n d r o m e 13 + 4 1 1 75644 Likely T y p e II Thana tophor ic Dwarf i sm 13 + 4 1 1 756.08 Prominent F o r e h e a d 33364 16 + 4 1 1 745.63 T h e r e A p p e a r s to be Only 1 A V V a l v e ( A V C a n a l D e f e c t ) 16 + 4 i 1 Grea t V e s s e l s A p p e a r Abnormal 16 + 4 i 1 74 5 00 ? poss ib le Truncus 16 + 4 1 1 745 49 Ventr icular S e p t u m is Incomplete 33374 16 + 1 1 6 + 1 wk 1 1 Fe ta l Deta i l i s S o m e w h a t Limi ted by Ma te rna l Abdomina l W a l l T h i c k n e s s 16 + 1 1 6 * 1 wk 1 1 G e n e t i c A m n i o c e n t e s i s - S ing le T a p , C l e a r Fluid 333S0 18 1 1 748.51 ? Pu lmonary H y p o p l a s i a 18 1 1 778 0 A s c i t e s 18 1 1 751,62 Enla rged L i v e r 18 1 1 744.88 ? N u c h a l E d e m a 18 1 1 762 28 Enlarged P l a c e n t a with Po lyhydramnios 18 1 1 754 82 Fe ta l C h e s t is S m a l l (the heart almost fills the chest ) 31391 13 + 2 14 + 1 w k 2 1 Multiple F ib ro ids 13 + 2 14 + 1 w k 2 1 762.28 L a r g e P l acen t a l L a k e N o t e d 13 + 2 1 4 * 1 wk 2 1 761.2 M i l d Ol igohydramnios 13 + 2 14 • 1 wk 2 1 779.9 N e e d R e p e a t F o r Fe t a l D e m i s e @ > 16 w k s in V i e w of Ma te rna l Abdomina l W a l l 33106 18 + 2 1 1 N o A n o m a l i e s S e e n T o d a y 18 + 2 1 1 Apparent ly Norma l G e s t a t i o n 33333 1 8 + 1 1 2 746,88 The R Vent r ic le of the Heart i s T h i c k e n e d a n d M o r e E c h o g e n i c T h a n U s u a l 1 8 + 1 1 2 778.5 S u b c u t a n e o u s E d e m a of the L o w e r S c a l p , N e c k , + P o s t e r i o r C h e s t A r e a 18 + 1 1 2 742 48 N o n e of The N o r m a l Intracranial St ructures C o u l d B e S e e n 1 8 + 1 1 2 Feta l Biometry Is Appropr ia te F o r G e s t . A g e 1 8 + 1 1 2 741 93 M e m i n g o c e l e in the Lumbar Sp ine , invorving a single ver tebrae at l eve l L 1 / L 2 33134 2 6 2 5 * 2 w k s 1 2 742 23 S m a l l Ce rebe l l um Identified 2 6 2 5 * 2 w k s 1 2 742 48 Fluid H a l o Surrounding B r a i n 2 6 2 5 • 2 w k s 1 2 754.78 A b n . P o s i t i o n F e e t 2 6 2 5 + 2 w k s 1 2 755.38 N o L o n g B o n e s in L o w e r Extremit ies 2 6 2 5 * 2 w k s 1 2 755.28 N o L o n g B o n e s in Uppe r Extremit ies 26 2 5 + 2 w k s 1 2 778.0 S e v e r e A s c i t e s 2 6 2 5 * 2 w k s 1 2 5119 Pleura l Effusion P re sen t 26 2 5 + 2 w k s 1 2 742 39 P o s s i b l e En la rged Ven t r i c l e s 2 6 2 5 * 2 w k s 1 2 742 48 Abnorma l Cen t r a l C e r e b r a l Structure 26 2 5 + 2 w k s 1 2 742. Unab le to Identify Norma l C e r e b r a l H e m i s p h e r e s 33530 17 1 6 * 1 w k 1 2 A c t i v e Fe tu s about 16 w k s by G r o w t h 17 1 6 * 1 wk 1 2 755.28 RadAJIna Not S e e n 17 1 6 * 1 wk • 1 2 755 9 Abnormal Fe t a l L i m b s (Act ive) 17 1 6 * 1 wk 1 2 756 08 ? A b s e n c e of N a s a l B o n e s 17 16 * 1 wk 1 2 755.58 Humerus 20 mm, appea r s to be jo ined directly to L H a n d 17 16 + 1 w k 1 2 755.08 ? Po lydac ty ly 17 1 6 + 1 wk 1 2 Femurs , 20 mm, T i b / F i b , 15 mm 17 16 • 1 wk 1 2 754 73 Both Fee t Turn Inwards 17 16 + 1 w k 1 2 744 88 M i l d Deg ree of N u c h a l S k i n E d e m a 17 16 + 1 w k 1 2 N o Other A b n . S e e n , Intracranial, Sp ine , Ches t , Hear t , S t o m a c h , K i d . , B ladder & A b d . W a l l , U .+L. J a w O K 17 16 + 1 w k 1 2 744 9 F a c e Not W e l l S e e n 33331 2 1 + 5 1 1 742.39 Slight Dila ta t ion of La t e r a l Ven t r i c l e s 2 1 + 5 1 1 741.01 A s s o c i a t e d A m o l d - C h i a r i Malformat ion 2 1 + 5 1 1 741.01 M e n i n g o c e l e , Invorving the sp ine for T 4 to S a c r u m 3333* 13 + 2 1 5 - 1 6 1 1 764 9 Fetus 3 w k s B e l o w in S i z e 18 + 2 1 5 - 1 6 1 1 74193 High M e n i n g o c e l e L e s i o n o n Lumbar Sp ine L 1 / 2 - L 4 33303 17 + 2 1 5 * 1.5 wk 1 1 746.88 E v i d e n c e o f Pe r i ca rd i a l Effus ions 17 + 2 1 5 * 1.5 wk 1 1 511.9 E v i d e n c e o f P leura l Effusions 17 + 2 1 5 * 1.5 wk 1 1 228.1 M a s s i v e Bilat . C y s t i c H y g r o m a extending from head to abd. & o v e r onto the vent ra l s ide o f fetus 33733 17 + 5 1 5 * 1 wk 4 1 Difficult to s e e 4 C h a m b e r Heart V i e w 17 + 5 1 5 + 1 w k 4 1 753,13 P o s s i b l e P o l y c y s t i c K i d n e y s 17 + 5 15 • 1 w k 4 1 761,2 S e v e r e Ol igohydramnios Appendix II Ult rasound Findings E G A E G A Amniotic Method Narrow D i a g n o s i s : D a t e s U / S Fluid ofTA Coda: 17 + 5 1 5 + 1 wk 4 1 H y p e r e c h o g e n i c K i d n e y s S e e n Bilaterally 17 + 5 1 5 + 1 wk 4 1 750.7 N o S t o m a c h S e e n 17 + 5 1 5 + 1 wk 4 1 H y p e r e c h o g e n i c M a s s Anter ior to L o w e r P o l e o f Kidney 17 + 5 15 + 1 w k 4 1 756.71 P o s s i b l e G a s t r o s c h i s i s 17 + 5 15 + 1 wk 4 1 748.51 P o s s i b l e Hypoplas t i c Lungs 17 + 5 15 + 1 w k 4 1 789.9 P o s s i b l e Intraabdominal Ca lc i f i ca t ions 17 + 5 15 + 1 w k 4 1 Heart O c c u p i e s 1/2 of the Throax 17 + 5 1 5 + 1 wk 4 1 754.03 H e a d i s D o l i c o c e p h a l i c 29 + 4 2 9 + 2 , 2 756.18 Sp ine V e r y Dis tor ted a n d Tor tuous 2 9 + 4 29 + 2 2 740.02 A n e n c e p h a l i c Fe tu s 1 4 * 1 13 , , 778.5 T h o r a c i c S k i n E d e m a 14 + 1 13 1 1 778.5 Abdomina l S k i n E d e m a 1 4 * 1 13 1 1 744.88 N u c h a l E d e m a 14 + 1 1 3 1 778 0 S e v e r e Fe t a l Hydrops 18 + 6 16 1 2 228.1 S m a l l Bi la tera l H y g r o m a s a re In E v i d e n c e 18 + 6 16 1 2 746.88 L a r g e R Atrium 1 8 * 6 16 1 2 746.88 L a r g e R Vent r ic le 18 + 6 16 1 2 745.63 A V C a n a l Defect 18 + 6 16 1 2 745.58 Large A S D 18 + 6 16 1 2 753.20 Minima l Bi la tera l Hydronephros i s 18 + 6 16 1 2 747.32 Pulmonary Artery Not a s L a r g e a s I W o u l d Expec t 18 + 6 16 1 2 746.88 S m a l l Pe r i ca rd i a l Effusion 18 + 6 16 1 2 745.48 Smal l If A n y V S D Componen t 18 + 6 16 1 2 Imp: D o w n ' s Synd rome , e tc . . . 6 + 6 6 + 6 6 + 6 20 20 2 0 2 0 2 0 2 0 2 0 2 0 2 0 2 0 20 17 + 5 17 + 5 17 + 5 17 + 5 17 + 5 17 + 5 17 + 5 17 + 5 • 1 wk f 1 w k • 1 wk • 1 w k K 1 wk • 1 w k Ma te rna l Abdomina l W a l l and Fe t a l P o s i t i o n a re Limiting in Th i s E x a m N o Abnormal i t ies S e e n T o d a y 756 7 S m a l l Abdomina l W a l l Defect Canno t B e Exc luded (Ache sugges t ive o f A b d . W a l l Defect ) F o u r C h a m b e r V i e w Identified S lugg i sh M o v e m e n t s Identified C a n n o t Es t ab l i sh 3 v e s s e l s in the Umbi l ica l C o r d Ext remi t ies A p p e a r Norma l F a c i a l F e a t u r e s not A s s e s s a b l e Ompha loce l e containing probably all o f the small b o w e l W i d e Anter ior Abdomina l W a l l Defec t Sp ine S h o w s M a r k e d S c o l i o s i s in L o w e r 2 /3rds Intracranial Structure Dis tor ted E n c e p h a l o c e l e from ver tex 553.1 756.7 754.20 742.48 742.08 756.08 741.01 756.72 778.8 753.88 753.20 754.82 751.62 761.2 754.73 742.39 742.39 762.8 N o G r o s s Fe t a l A n o m a l i e s S e e n L e m o n S i g n Presen t M e n i n g o m y e l o c e l e a r i s ing in the L 3 - L 4 ver tebrae l eve l C a r d i a c , Al l S t ructures a n d V e i n s S e e n a n d A p p e a r Norma l B a n a n a S i g n P re sen t L o w e r Limb P o s ' n a n d M o v e m e n t A p p e a r Norma l M o d . Vent r i cu lomega ly sugges t ing a s s o c i a t e d Arnold Ch ia r i Mat fn Imp: Ur inary Trac t Obs t ruc t ion + M a s s i v e A s c i t e s (likely urinoma), Prune Bel ly S y n d r o m e M a s s i v e Fe t a l A s c i t e s V e r y L a r g e B ladder Bi la tera l M i l d Hydroneph ros i s C h e s t C i r c u m f e r e n c e < 10%cent i l e Per iphera l Ca lc i f i ca t i ons at E d g e o f L i v e r S e v e r e Ol igohydramnios Pos i t i ona l R C lub Foo t N o B ladder S e e n Bi la tera l R e n a l H y p o g e n e s i s / A g e n e s i s Imp: Le tha l R e n a l Malformat ions En la rged C y s t e m a M a g n a Cran ioven t r i cu lomega ly A m n i o n C l o s e l y App l i ed to Fe t a l Par t s 19 + 4 19 + 4 19 + 4 19 + 4 19 + 4 19 + 4 19 + 4 19 + 4 19 + 4 19 + 4 753 71 P o s s i b l e U r a c h a l C y s t 746.88 L Vent r ic le appea r s smaller than R s ide 742.48 La rge C h o r o i d P lexus C y s t R S i d e 745.58 A S D 756.61 Diaphragmat ic Hern i a , L S i d e 753.48 P o s s i b l e Di la ted Ureter 789.9 Intraabdominal C y s t i c Structure 7 4 5 4 9 P o s s i b l e V S D 755.61 R o c k e r Bot tom Fee t Difficult to s e e Fe t a l K i d n e y s Appendix II Ul t rasound Findings „ 124 Code E G A E G A Amniotic Method Narrow D i a g n o s i s : No: Date s U / S Fluid of TA Code: 18 + 3 1 1 742.48 Drooping C h o r o i d P lexus 18 + 3 1 1 746.88 R Vent r ic le A p p e a r s Larger than L Vent r ic le 18 + 3 1 1 745 49 P o s s i b l e V S D 18 + 3 1 1 Imp: C h r o m o s o m a l Abnormal i t i es , P o s s i b l e T r i somy 18 + 3 1 1 742.39 M i l d Vent r icu lomega ly 18 + 3 1 1 751.64 M a r k e d l y Di la ted Gal lb ladder , a p p e a r s thick wa l l ed 18 + 3 1 1 Unab le to Detec t P r e s e n c e o f Intact C a r d i a c S e p t u m 38QS1 1 1 + 3 1 1 744,88 E x t e n s i v e A r e a of N u c h a l E d e m a , Extenting from back o f neck to midway d o w n spine 1 1 + 3 1 1 S i z e Appropr ia te of G e s t a t i o n a l A g e B y Da te s 3S914 26 + 4 4 2 750.7 Unab le T o v i sua l i ze S t o m a c h 26 + 4 4 2 761.2 S e v e r e Ol igohydramnios 26 + 4 4 2 Unab le T o v i sua l i ze K i d n e y s 26 + 4 4 2 753. B Unab le T o Vi sua l i ze Bladder 2 6 + 4 4 2 753.00 S u g g e s t i v e of R e n a l A g e n e s i s 2 6 + 4 4 2 Unab le to S e e G o o d Ana tomic Deta i l D u e to Ol igohydramnios 31961 12 1 1 S u c c e s s f u l T r a n s c e r v i c a l C V S , T rans . A b d . , 2 attempts, F / H +ve 36967 2 7 4 2 746.88 Per i ca rd i a l Effus ions 27 4 2 764.9 S e v e r e S y m m e t r i c a l I U G R , 5%cent i l e 27 4 2 779.9 Fe ta l Hear t Absen t at T o d a y s E x a m 27 4 2 746.1 M i l d T r i cusp id + Mit ra l Regurgi ta t ion (Doppler) 27 4 2 761.2 S e v e r e Ol igohydramnios 27 4 2 Imp: P o s s i b l y C h r o m o s o m e A n o m a l i e s o r Intrauterine Infection 38969 U n k n o w n 2 6 - 2 7 4 2 Hear t D i s p l a c e d Crania l ly a n d to the Left U n k n o w n 2 6 - 2 7 4 2 789,9 L a r g e Intraabdominal C y s t i c Structure (multicystic) w h i c h o c c u p i e s much of the a b d o m e n U n k n o w n 2 6 - 2 7 4 2 761.2 S e v e r e Ol igohydramnios U n k n o w n 2 6 - 2 7 4 2 Unab le to D i s c e r n C a r d i a c Ana tomy D u e to C o m p r e s s i o n a n d Dis tor t ion U n k n o w n 2 6 - 2 7 4 2 756,6 Diaphragm i s difficult to s e e U n k n o w n 2 6 - 2 7 4 2 753,1 A b d . M a s s A p p e a r s to be a large Mut t i /Po lycys t i c K i d n e y ( M a s s i s Ret roper i tonea l U n k n o w n 2 6 - 2 7 4 2 A S e c o n d Kidney C o u l d Not B e S e e n U n k n o w n 2 6 - 2 7 4 2 753,8 Bladder Not S e e n U n k n o w n 2 6 - 2 7 4 2 750.7 S t o m a c h Not S e e n U n k n o w n 2 6 - 2 7 4 2 C y s t i s exer t ing a m a s s effect c o m p r e s s i n g heart a n d Lungs 38972 17 + 5 1 2 762.68 Umbi l ica l Insertion Abnormal i t ies 17 + 5 1 2 754.22 Flat tened D e c r e a s e d Angle to Sp ine 17 + 5 1 2 756.79 L o w e r Abdomina l W a l l A p p e a r s Abnormal 17 + 5 1 2 753.71 P o s s i b l e U r a c h a l C y s t 17 + 5 1 2 753.88 P o s s i b l e Bladder Extrophy 17 + 5 1 2 752.88 G e n e t a l i a Not W e l l Defined, (ambiguous) 17 + 5 1 2 755.67 P e l v i c Iliac St ructures A p p e a r Abnormal 38973 19 + 2 3 2 Imp: C h r o m o s o m e A n o m a l i e s , ? T 2 1 , o r T 1 8 / 1 3 19 + 2 3 2 750.7 S t o m a c h not s e e n today 19 + 2 3 2 753.8 Bladder not s e e n today 19 + 2 3 2 778.0 Fe ta l A s c i t i e s 19 + 2 3 2 761.2 M o d e r a t e Ol igohydramnios 19 + 2 3 2 778.0 H y d r o p s 19 + 2 3 2 511,9 Bila tera l P leura l Effusions 19 + 2 3 2 753.20 Large Di la ted R e n a l P e l v i s R Kidney 19 + 2 3 2 228.1 Large C y s t i c H y g r o m a extending poster iorly to leve l of C 6 / C 7 19 + 2 3 2 746.88 Hypoplas t i c L Vent r ic le 19 + 2 3 2 Unab le to s e e short ax i s v i e w of heart 19 + 2 3 2 L Kidney not s e e n today 38978 18 34 2 V e r y Little M o v e m e n t W a s N o t i c e d 18 34 2 764,S A b d o m e n a n d Thorax are < 5%cent i le of Normal U / S da tes 18 34 2 761.2 M o d e r a t e to S e v e r e Ol igohydramnios 38979 1 2 + 1 1 1 + 4 +/-3 1 1 Sing le ton G e s t a t i o n 1 2 + 1 1 1 + 4 +/-3 t 1 S i z e = D a t e s 1 2 + 1 1 1 + 4 +/-3 1 1 S u c c e s s f u l T r a n s c e r v i c a l C V S , F H +ve before & after 38983 19 18 34 1 Unab le to Vi sua l i ze 4 C h a m b e r V i e w o f Hear t 19 18 34 1 745,58 P o s s i b l e A S D 19 18 34 1 761.2 M o d e r a t e to S e v e r e Ol igohydramnios 19 18 34 1 778.0 Fe ta l A s c i t e s 19 18 34 1 778.0 H y d r o p s 19 18 34 1 511.9 Bila tera l P leura l Effus ions 19 18 34 1 742.39 M i l d Di la t ion o f 3rd Vent r i c le 19 18 34 1 742,39 M i l d Vent r icu lomega ly 19 18 34 1 Probab le C h r o m o s o m e A n o m a l y , ? Turners 19 18 34 1 764,9 Fe ta l s i z e < 10%cent i l e for G e s t . A g e 19 18 34 1 228.1 C y s t i c H y g r o m a - large sep ta ted cys t i c structure extending form h e a d d o w n back 19 18 34 1 753,8 Bladder Not S e e n Appendix II Ul t rasound Findings 125 E G A E G A Amniotic Method Narrow D i a g n o s i s : D a t e s U / S FMd of TA Code; 18 16 • 1 , 2 754.00 S o m e w h a t A s y m m e t r i c a l F a c i a l St ructures 18 16 + 1 t 2 756.18 C e r v i c a l a n d Uppe r T h o r a c i c S p i n e A p p e a r W i d e n e d 18 16 + 1 1 2 742,26 Conf i rmed H o l o p r o s e n c e p h a l y (single vent r ic le , in terhemispher ic f issure seen) 18 16 + 1 1 2 742.48 Tha lamus P o s s i b l y F u s e d 18 1 6 + 1 1 2 742.48 C h o r o i d P l e x u s Indist inguishable 18 1 6 + 1 1 2 756.1 Genera l ly Sp ine Not W e d S e e n D u e T o Fe ta l P o s i t i o n 18 16 + 1 2 742 48 S e p t u m Pel tucidum Not Identifiable 15 + 4 2 N o Fe ta l A n o m a l i e s S e e n 15 + 4 1 2 Fe ta l S i z e C o r r e s p o n d s wi th M e n s t r a l Da t e s 19 + 1 15 + 1 wk 4 , 761.2 S e v e r e Ol igohydramnios 1 9 + 1 15 + 1 wk 4 1 Probab le Le tha l M C A , C h r o m o s o m a l 1 9 + 1 15 + 1 wk 4 1 742.39 S e v e r e Vent r icu lomegaly 19 + 1 15 + 1 wk 4 1 742.48 Cerebe l l um D i s p l a c e d Pos ter ior ly 19 • 1 15 + 1 w k 4 1 Probable Congen i t a l Heart D i s e a s e 19 + 1 1 5 * 1 wk 4 1 N o Clear ly Def ined R e n a l St ructures S e e n 19 + 1 1 5 + 1 wk 4 1 753.8 N o Bladder S e e n 17 + 1 , 3 T w i n A - N o Identifiable Thorax Structures 17 + 1 1 3 762.30 Imp: T R A P - T w i n R e v e r s e d Ar ter ia l Pe r fus ion S e q u e n c e 17 + 1 1 3 T w i n B A p p e a r s Norma l 17 + 1 1 3 778.0 T w i n A - G r o s s l y Hydrop ic 1 7 + 1 1 3 T w i n A - N o Identifiable Internal H e a d Structures 17 + 1 1 3 Twin A - N o Identifiable Adomina l S t ruc tures 1 7 + 1 3 Twin A - N o Hear t i s S e e n Although A Pu l sa t ion i s V i s i b l e in Throax 10 + 4 < Ultrasound Conf i rms Mens t r a l D a t e s 2 8 - 2 9 4 2 753.16 P o s s i b l y C y s t i c H o r s e s h o e Kidney 2 8 - 2 9 4 2 761.2 S e v e r e Ol igohydramnios 2 8 - 2 9 4 2 754.03 Dol i cocepha ly , Probably due to Ol igohydramnios 2 8 - 2 9 4 2 Normal Fe t a l K idney Not S e e n 2 8 - 2 9 4 2 753.16 Mult icys t ic M a s s in the L o w e r A b d o m e n 2 8 - 2 9 4 2 753.8 Bladder Not Identified 1 0 * 4 1 1 R S i d e d M u K i c y s t i c / S o l i d M a s s , 8 x 6 c m - bilateral o v a r i a n m a s s e s 10 + 4 1 1 R S i d e d Mul t i cys t i c M a s s , 2 x 4 c m , ? ova ry 1 0 * 4 1 1 Uncompl i ca t ed Trans A b d . C V S 13 + 1 3 1 228.1 Swel l ing A r o u n d N e c k Cons i s t en t wi th C y s t i c H y g r o m a 1 3 + 1 3 1 Imp: C h r o m o s o m a l Anoma ly M o s t L ike ly D i a g n o s i s 13 • 1 3 i 778.0 Fe ta l H y d r o p s 2 1 + 2 17 , 2 511.9 Pleu ra l Effus ions 2 1 + 2 17 i 2 754.73 Bila tera l C lubbed Fett 2 1 + 2 17 i 2 740.01 Imp: Cons i s t en t with S y n d r o m e of A c r a n i a 2 1 + 2 17 t 2 742.48 Fla t tened C e r e b r a l H e m i s p h e r e s 2 1 + 2 17 i 2 740.01 A c r a n i a 2 1 + 2 17 i 2 778.5 A s c i t e s 2 1 + 2 17 i 2 778.0 G e n e r a l i z e d H y d r o p s 2 1 + 2 17 i 2 764.9 I U G R , S i z e - 4 w e e k s behind a g e (femur/trunk = 17 w k s ) 2 1 + 2 17 ' 2 740.01 Absen t Catvar ium 2 1 + 6 4 2 753.8 N o Bladder Identified 2 1 + 6 4 2 746.88 P o s s i b l e En la rged R A 2 1 + 6 4 2 746.88 M o d e r a t e Pe r i ca rd i a l Effusion 2 1 + 6 4 2 750.7 N o S t o m a c h Identified 2 1 + 6 4 2 N o K i d n e y s Identified 2 1 + 6 4 2 746.86 Fe ta l Hear t myoca rd ium appea r s hypertrophic 2 1 + 6 4 2 761.2 N o Amnio t i c Fluid A r o u n d Fe tus 2 1 + 6 4 2 756.1 S p i n e - poo r v i sua l i za t ion 19 2 , 778.0 A s c i t e s 19 2 1 761,2 M i l d Ol igohydramnios 19 2 1 511.9 Pleura l Effusion 19 2 1 778.5 G e n e r a l i z e d E d e m a 19 2 1 Difficulty in R e c o g n i z i n g Abdomina l O r g a n s D u e to A s c i t e s 19 2 ' 228,1 C y s t i c H y g r o m a 20 + 3 1 6 - 1 7 34 1 756.08 A b n Skull S h a p e , (asymmetr ic though no int racranial anomaly) 20 + 3 1 6 - 1 7 34 1 Deta i l Ext remely Difficult to S e e 20 + 3 1 6 - 1 7 34 1 745.58 A S D , P o s s i b l y a l s o identified 20 + 3 1 6 - 1 7 34 1 753.20 P o s s i b l e Hydroure te r o r Hydronephros i s 20 + 3 1 6 - 1 7 34 t 754.22 S e v e r e Angula t ion o f Uppe r T h o r a c i c Sp ine with Absen t Apparent Hemive r t eb rae 20 + 3 1 6 - 17 34 1 764, S 16-17 w k s by B P D - I U G R 20 + 3 1 6 - 17 34 1 761.2 M o d e r a t e - S e v e r e Ol igohydramnios 20 + 3 1 6 - 17 34 1 753.88 M a s s i v e Fluid Fi l led D i s t ended C y s t i c Structure Intra abdominally, A p p e a r s to be B ladder Appendix II Ul t rasound Findings 126 Code E G A E G A Amniotic Method Narrow D i a g n o s i s : No: D a t e s U/S FKid otTA Code: 39376 16 + 3 1 2 228.1 L a r g e C y s t i c H y g r o m a 18 + 3 1 2 754.82 Bel l S h a p e d Thorax , C i r cumfe rence < 25%centi1e 18 + 3 1 2 756.44 A c h o n d r o g e n e s i s T y p e II 18 + 3 1 2 756.18 N o n - o s s i f i e d S p i n e , Lumbar a n d Thorax 18 + 3 1 2 756.18 P o s s i b l e Sp lay ing o f P e d i c l e s 18 + 3 1 2 741.99 S u g g e s t i v e D y s r a p h i s m 18 + 3 1 2 755 48 S e v e r e M i c r o m e l i a of all L i m b s 1930S 18 + 4 1 2 N o other anomal i e s s e e n today 1 8 * 4 1 2 756.1 Sp ine A p p e a r s Norma l 1 8 * 4 1 2 740.02 A n e n c e p h a l y - A b s e n c e of Ca tva r ium and B r a i n C o m p o n e n e t s 39337 19 * 2 1 8 + 1 w k 1 1 742.39 M i l d Vent r icu lomega ly 19 + 2 1 8 * 1 w k 1 1 742.48 Unila tera l Dangl ing C h o r o i d P l e x u s 19 + 2 18 + 1 wk 1 1 751.5 E c h o g e n i c B o w e l , con ta ins fluid but not over ly d i s tended 39333 1 4 * 3 1 1 + 2 1 1 742.26 P o s s i b l e Ho toprosencepha ly 14 + 3 1 1 + 2 1 1 756.08 Skul l Poor ly C a l c i f i e d 1 4 * 3 11 + 2 1 1 764.9 S e v e r e I U G R 14 + 3 1 1 + 2 1 1 755.88 L o n g B o n e s Al l S h o r t e n e d 14 + 3 1 1 + 2 1 1 756.08 L a r g e Fluid C o l l e c t i o n s Supe r io r H e a d R e g i o n 14 + 3 1 1 + 2 1 1 756.79 L a r g e Abdomina l W a l l Defec t 14 + 3 1 1 + 2 1 1 756.08 B r a i n Su tures Not W e l l Def ined 14 + 3 1 1 + 2 1 1 755.88 L o n g B o n e s Poo r ly C a l c i f i e d 39341 17 1 2 746.7 Impress ion: Hypop las t i c L Hear t S y n d r o m e 17 1 2 746,88 C o m p e n s a t o r y R S i d e d Enlargement 17 1 2 747.28 A s c e n d i n g Aor ta l Enlargement 17 1 2 746.88 Hypop las t i c L Vent r ic le 39343 12 + 3 1 1 740.01 Fetus wi th A c r a n i a 12 + 3 1 t N o Other A n o m a l i e s D e t e c t e d at this Point 39343 24 2 1 754.78 A b n R Foo t P o s i t i o n 24 2 1 755.63 A b s e n t R Fibula 2 4 2 1 N o Other A n o m a l i e s A r e S e e n 39367 1 8 * 2 1 1 N o Other A n o m a l i e s A r e S e e n 18 + 2 1 t 740.02 A n e n c e p h a l y 39373 2 5 + 1d 1 8 - 21 wk 4 1 5 0 0 c c Amnio Infusion 2 5 + 1d 1 8 - 2 1 wk 4 1 764,9 H C & B P D = 2 0 wk, A C = 18 w k s , F L = 21 w k s ( M e a s u r e m e n t s Conf i rmed) 2 5 * 1d 1 8 - 2 1 w k 4 1 Other Ana tomy A p p e a r s Norma l 2 5 + 1d 1 8 - 2 1 w k 4 1 754,82 S m a l l Thorax 2 5 • 1d 1 8 - 2 1 w k 4 1 753.00 N o K i d n e y s S e e n 39376 15 + 3 1 2 Apparent ly Norma l G e s t a t i o n 39330 16 + 1 2 1 228.1 C y s t i c H y g r o m a 16 + 1 2 1 778.0 H y d r o p s 16 + 1 2 1 756.49 Ske le t a l D y s p l a s i a - all long b o n e s « 5 % c e n t i l e 16 + 1 2 1 754.82 N a r r o w Thorax 1 6 + 1 2 1 742.48 Cerebe l l um Not S e e n 16 + 1 2 1 753.8 Bladder Not S e e n 16 + 1 2 1 756.18 K y p h o s c o l i o s i s , S p i n e S e v e r e l y T w i s t e d , T h o r a c i c 1 6 + 1 2 1 778.5 A s c i t e s 39303 1 1 + 3 1 4 228.1 N u c h a l E d e m a , H a s A p p e a r a n c e o f C y s t i c H y g r o m a 1 1 + 3 1 4 779.9 IUD, N o Fe ta l Hear t B e a t 39309 19 + 5 19 1 2 745.49 2 Ven t r i c l e s A r e W e l l F o r m e d & It Is Not C l e a r If T h e r e Is A V S D Componen t 19 + 5 19 1 2 753.20 Prominent R e n a l V a l v e s (4 .5 mm & 4 mm) 19 + 5 19 1 2 745.63 Imp: C o n s i s t e n t wi th a n A V S e p t a l Defect , not likely to be duct dependent 19 + 5 19 1 2 745.63 4 c h a m b e r v i e w aga in a p p e a r s normal ci th lo s s of the crux wh ich ind ica tes an A - V septa l defect 19 + 5 19 1 2 Normal S i tus a n d G t V e s s e l s N o t e d 39513 16 + 1 15 + 1 1 1 228.1 C y s t i c H y g r o m a 1 6 * 1 15 + 1 1 1 778,0 A s c i t e s 16 + 1 15 + 1 1 1 S u s p e c t C h r . Anoma ly (Turners , T 1 3 , T18) 1 6 * 1 1 5 + 1 1 1 778.0 G e n e r a l i z e d Hydrops - S k i n E d e m a 16 + 1 1 5 + 1 1 1 755,88 B o n e Lengths are smal ler than e x p e c t e d (14 wks) 16 + 1 1 5 + 1 1 1 751.5 E c h o g e n i c S m a l l B o w e l 39513 18 1 2 740.02 A n e n c e p h a l i c Fe tu s wi th S m a l l Amount o f B r a i n T i s s u e 18 1 2 Fe ta l S i z e Appropr ia te B y Abdomina l , Trunk a n d Femur Length 39530 7 14 + 1 wk 2 1 753.68 Imp: C o u l d be N Urinary B ladder with obs t ruc ted Outf low or Neop las t i c eg . ova r i an cys t if female 7 14 • 1 wk 2 1 L a r g e cys t i c struct, o c c u p y i n g & dis tending the fetal abd . , d isp lac ing liver up& c o m p r e s s i n g other o rgans Appendix II Ultrasound Findings 127 Code E G A E G A Amniobe Method Narrow D i a g n o s i s : No: D a t e s U / S Fluid of TA Code: ? 14 + 1 w k 2 1 K i d n e y s a re V e r y Difficult to A s s e s s ? 14 + 1 wk 2 1 N o Definite Intracranial o f S p i n a l A n o m a l i e s S e e n ? 14 + 1 wk 2 1 761.2 Amnio t i c Fluid A p p e a r s Slightly L o w F o r Th i s A g e 39512 14 1 1 744.91 F a c e A p p e a r s Without F e a t u r e s 14 1 1 744.88 N u c h a l E d e m a 14 1 1 553.1 Ompha loce l e 14 1 1 A b n 4 C h a m b e r V i e w of Heart , (too smal l to c lass i fy) 14 1 1 743.67 N o Orbi ts 14 1 1 742.26 H o l o p r o s e n c e p h a l y with P o s t e r i o r Par t ia l Fabc 14 1 1 764.9 Smal l F e t u s , 10%cent i l e 39561 17 + 2 1 2 742 48 B a n a n a S h a p e d Ce rebe l l um 17 + 2 1 2 756.08 L e m o n S h a p e d Skul l 17 + 2 1 2 741.94 S a c r a l M e n i n g o m y e l o c e l e 17 + 2 1 2 N o Other Fe t a l A n o m a l i e s S e e n T o d a y 39564 16 1 2 U / S at Pen t i c ton 16 1 2 N o A n o m a l i e s S e e n T o d a y 39579 12 + 1 1 1 228.1 N u c h a l E d e m a , a p p e a r a n c e cons is ten t with C y s t i c H y g r o m a 39701 15 + 6 14 + 1 wk 1 4 789 9 Large Intraabdominal C y s t at C o r d Insertion 15 + 6 14 + 1 wk 1 4 751.58 P o s s i b l e M e s e n t e r i c C y s t 15 + 6 1 4 + 1 wk 1 4 756.49 Impress ion: Ske l e t a l D y s p l a s i a 15 + 6 14 + 1 wk 1 4 753.71 P o s s i b l e U r a c h a l C y s t 15 + 6 14 + 1 wk 1 4 778.5 S c a l p E d e m a 15 + 6 14 + 1 wk 1 4 752.08 P o s s i b l e O v a r i a n C y s t 15 + 6 14 + 1 wk 1 4 756.08 F o r e h e a d A p p e a r s Prominent 15 + 6 1 4 + 1 wk 1 4 754.82 Bel l S h a p e d Throax 15 + 6 14 + 1 wk 1 4 756.79 Thicken ing of Abdomina l W a l l 1 5 + 6 1 4 + 1 wk 1 4 755.88 All L o n g B o n e s a re « 5 % c e n t i l e 39702 2 3 19 + 1 wk 4 3 762.21 Placen ta l R e s i s t a n c e , Absen t Ed ias t a t i c F l o w 2 3 19 + 1 wk 4 3 N o F e t a l Abnormal i t ies S e e n Other than I U G R 2 3 19 + 1 wk 4 3 764.9 I U G R 39721 16 1 1 Apparent ly Norma l G e s t a t i o n 39728 12 + 2 1 2 553.1 O m p h a l o c e l e , L a r g e Abdomina l wal l Defec t Cons i s t en t with, 39736 14 + 3 1 1 N o G r o s s Fe t a l A n o m a l i e s S e e n 14 + 3 1 1 C a r d i a c A n a t o m y Poor ly S e e n 39757 11 1 1 Uncompl i ca t ed T r a n s c e r v i c a l C V S 11 1 1 752.38 Acu te ly Re t rover ted , Ret rof lexed Uterus 3978S 16 + 2 4 t 750.7 N o S t o m a c h C o u l d B e S e e n 16 + 2 4 1 753.20 M i l d Dis ten t ion o f R e n a l P e l v i s 16 + 2 4 1 756.18 Dis ta l S p i n e A p p e a r s S p l a y e d 16 + 2 4 1 753.69 Dila ted P rox ima l Urethra 16 + 2 4 1 753.29 Double Col lec t ing S y s t e m , R S i d e , P o s s i b l y Bi la tera l 16 + 2 4 1 789.9 L a r g e Abdomina l C y s t i c M a s s 16 + 2 4 1 753.88 Like ly Dilated B ladder 16 + 2 4 1 754.03 D o l i c o c e p h a l i c H e a d 16 + 2 4 1 761.2 S e v e r e Ol igohydramnios 16 + 2 4 1 753 0 P o s s i b l e R e n a l D y s p l a s i a , (hyperechogen ic pa renchyma) 39794 19 17 1 1 756.61 P o s s i b l e Diaphragmat ic H e m i a 19 17 1 1 742.26 H o l o p r o s e n c e p h a l y 19 17 1 1 742.23 Hypop las t i c Cerebe l lum 19 17 1 1 744.88 Nuchat E d e m a 19 17 1 1 756.08 Hypo te lo r i sm 19 17 1 1 Hear t A b n with only 2 C h a m b e r s Clea r ly S e e n 39819 16 14 3 4 F e t a l K i d n e y s A p p e a r E c h o g e n i c 16 14 3 4 764 9 I U G R 16 14 3 4 753.34 F e t a l K i d n e y s A p p e a r Enlarged 16 14 3 4 750.73 Fe ta l S t o m a c h is D i s p l a c e to the L S i d e of C h e s t 16 14 3 4 756.61 P o s s i b l e Diaphragmat ic H e m i a 16 14 3 4 746.80 Fe ta l Hear t i s D i s p l a c e d to the R S i d e o f C h e s t 39905 19 2 1 Single L i v e Fe tu s 19 2 1 764.9 G r o w t h i s l e s s than expec ted , h e a d & abd . measure 'n ts are l e s s than 1 0 % t i l e although femur length a re norm 19 2 1 761.2 In combina t ion with mild Ol igohydramnios 19 2 1 S u s p i c i o u s for C h r o m o s o m a l Abnormal i ty 39930 ? 15 + 1 I 1 553.1 The Umbi l ica l C o r d A p p e a r s to Originate out o f the M a s s , Cons i s t en t with Ompha loce l e ? 1 5 + 1 1 1 D u e to Ear ly G e s t A g e it i s difficult to s e e fetal detai l we l l Appendix II Ultrasound Findings Code E G A E G A Amniotic Method Narrow D i a g n o s i s : No: Date s U / S Fluid of TA Code: ? 1 5 + 1 1 1 D u e to Ma te rna l B o d y Habi tus it i s difficult to s e e fetal detai l 7 15 + 1 1 1 553.1 A n Ompha loce l e S e e m s to be Presen t ? 15 + 1 1 1 Difficult to A s s e s s Deta i l Due to Mate rna l B o d y Habi tus ? 15 + 1 1 1 N o Other G r o s s Fe t a l Anoma ly is S e e n 7 1 5 + 1 1 1 A Midl ine M a s s Adjacent to Anter ior A b d . Watt ? 1 5 + 1 1 1 Imp: C a n B e A s s o c i a t e d wi th C h r o m o s o m a l A b n . 30031 14, 1 2 L o n g M . P . t 4 751.58 P o s s i b l y M e s e n t e r i c C y s t 14, 12 L o n g M . P . 1 4 Difficult to A s s e s s Kidney 14, 1 2 L o n g M . P . 1 4 753.71 P o s s i b l y U r a c h a l C y s t 14, 12 L o n g M . P . 1 4 752.08 P o s s i b l y O v a r i a n C y s t 14, 12 L o n g M . P . 1 4 753.88 Like ly Di la ted Bladder , L a r g e c y s t i c structure i n L o w e r A b d o m e n 1 4 , 1 2 L o n g M . P . 1 4 228.1 L a r g e C y s t i c H y g r o m a 1 4 , 1 2 L o n g M . P . 1 4 Difficult to A s s e s s Hear t 30033 15 + 3 1 1 N o Fe ta l A n o m a l i e s S e e n T o d a y 15 + 3 1 1 4 C h a m b e r V i e w of Hear t O K 15 + 3 1 1 Short A x i s V i e w of Hear t Not V i s u a l i z e d 30043 19 1 2 756.02 Hyper te lo r i sm 19 1 2 747.38 S m a l l Pu lmonary Artery, with Subpulmonary M u s c l e 19 1 2 742.48 P o s t e r i o r F o s s a C y s t 19 1 2 745.20 Imp: Tetra logy of Fallot 19 1 2 747.19 Large Over r id ing A o r t a 19 1 2 745,49 V S D 30033 16 + 6 1 2 C o r o n a l V i e w Not S e e n 16 + 6 1 2 755.88 R S i d e Limb Abnormali ty , hand adherent to h e a d 16 + 6 t 2 755.32 P o s s i b l e L e g Amputa t ion at K n e e 1 6 * 6 1 2 762.8 P o s s i b l e Amnio t ic B a n d S y n d r o m e 16 + 6 1 2 553.1 P o s s i b l e Ompha loce l e , with l iver in situ 1 6 * 6 1 2 742.09 L a r g e E n c e p h a l o c e l e with brain adherent to p lacenta 16 + 6 1 2 740.01 Acram'a 16 + 6 1 2 741.99 P o s s i b l e S p i n a l D y s r a p h i s m 40103 26 + 2 24 1 1 771.21 P o s s i b l e T o x o p l a s m o s i s Infection (Mat. toxo infection) 2 6 + 2 24 1 1 742.23 Cerebe l l a r Hypop tas i a /Degreda t ion 2 6 + 2 24 1 1 742.48 S m a l l L a y e r of C S F Btwn Skull & Bra in T i s s u e 2 6 * 2 24 1 1 742.38 Enla rged C i s t e r n a l M a g n a + 4th Vent r ic le 2 6 * 2 24 1 1 742.20 G e n e r a l i z e d C e r e b r a l Shr inking 40114 22 + 5 21 1 2 764.9 A s y m m e t r i c a l I U G R , Fe t a l Trunk <10%cent i le 22 + 5 21 1 2 755.51 P o s s i b l e C h r . Abnormal i ty 22 + 5 21 1 2 C l e n c h e d L H a n d , wi th F inger Over l app ing 22 + 5 21 1 2 750.7 S t o m a c h Not W e l l S e e n 40130 29 + 5 4 5 761.2 S e v e r e Ol igohydramnios 29 + 5 4 5 754.22 Lordot ic C u r v e o f S p i n e 29 + 5 4 5 756.08 Ci rcu l a r H e a d S h a p e 29 + 5 4 5 756.18 N o L o w e r S p i n e C o u l d be Identified 29 + 5 4 5 756.7 Difficult to Identify B o d y W a l l 2 9 + 5 4 5 762 6 Difficult to Identify Umbi l ica l C o r d 29 + 5 4 5 755.6 P e l v i c B o n e s C o u l d Not B e S e e n 29 + 5 4 5 755.6 L o w e r L i m b s cou ld not be Identified 29 + 5 4 5 789.9 Difficult to Identify Intraabdominal O r g a n s 40133 34 1 2 553.1 S m a l l O m p h a l o c e l e 34 1 2 753.20 Bila tera l M o d e r a t e Hydroneph ros i s 34 1 2 752.88 A m b i g u o u s Gen i t a l i a 34 1 2 754.73 Club F e e t 34 1 2 Sugges t : T r i s o m y 13 o f 18 34 1 2 749.21 Bila tera l Cleft Pa l a t e 34 1 2 749.21 Bila tera l Cleft L ip 34 1 2 756.08 Strawberry S h a p e d Skul l 34 1 2 745.63 A V C a n a l Defect 40134 27 + 2 5 3 755.28 A b s e n c e of R Ulnar B o n e , June 22 e x a m 2 7 * 2 5 3 749.19 Cleft L ip s e e n June 22 e x a m 27 + 2 5 3 764,9 Femur <10%cent i le 27 + 2 5 3 764,9 H e a d <10%cent i le 2 7 * 2 5 3 745.49 V S D 2 7 + 2 5 3 747.32 Smal l P A ' s 27 + 2 5 3 747.21 L a r g e Overr id ing A o r t a 40113 13 1 4 744.88 E x t e n s i v e N o n s e p t a t e d Diffuse N u c h a l E d e m a 13 1 4 778.0 Fe ta l H y d r o p s 40161 19 + 4 1 1 Shor t A x i s V i e w o f Hear t Poor ly S e e n 19 + 4 1 1 2 A V v a l v e s wi th F o r a m e n F lags Appendix II Ul t rasound Findings 129 Code E G A E G A Amniotic Method Narrow D i a g n o s i s : No: D a t e s U / S Fluid ot TA Code: 19 + 4 1 1 C a r d i a c S c a n , Techn ica l ly Difficult due to Fe t a l P o s i t i o n 401 SO 16 + 4 1 6 + 1 1 1 778.0 A s c i t e s 16 + 4 1 6 + 1 1 1 744.91 F a c e Poo r iy S e e n 16 + 4 1 6 + 1 1 1 511.9 Pleura l Effusion 16 + 4 1 6 + 1 1 1 553.1 L a r g e Ompha loce l e with B o w e l a n d L i v e r Inside 16 + 4 16 + 1 1 1 Hear t Poo r ly S e e n 401 S3 9 + 5 13 1 4 740.01 A c r a n i a 9 + 5 13 1 4 Fe ta l S i z e C o r r e s p o n d s to 13 w e e k s 40186 1 6 + 1 1 1 Apparent ly Norma l G e s t a t i o n 40187 19 + 3 1 2 746.08 Pulmonary V a l v e L o o k s At ic t i c wi th smal l M P A 19 + 3 1 2 746.2 Probab ly E b s t e i n s Anoma ly 19 + 3 1 2 746 00 Sugges t Pu lmonary V a l v e A t r e s i a 19 + 3 1 2 746.88 L a r g e R A Duc tus Angle 19 + 3 1 2 746.1 Abnormal Tr icusp id V a l v e 40311 18 + 3 1 2 742 26 F u s e d Tha lami wi th Monoven t r i c l e 18 + 3 1 2 764 9 I U G R , growth <10%cent i le 18 + 3 1 2 742.1 M i c r o c e p h a l y 18 + 3 1 2 750.7 N o S t o m a c h Bubble S e e n 18 + 3 1 2 Sing le A V V a l v e 18 + 3 1 2 756 08 Hypote lo r i sm 18 + 3 1 2 742.26 S e m i l o b a r Ho lop rosencepha ly 18 + 3 1 2 756.08 Midl ine Defec t S u s p e c t e d in Maxi l l a 18 + 3 1 2 745.4 N o Vent r icu la r S e p t u m S e e n 18 + 3 1 2 755.51 Bila tera l H a n d A n o m a l i e s S u s p e c t e d 18 + 3 1 2 742.48 P o s s i b l e P o s t e r i o r Fa lx 4031S 17 + 6 1 2 755.51 Both H a n d s A p p e a r Adduc ted in Front o f F a c e 17 + 6 1 2 755.5 A r m s F l e x e d at E l b o w s 17 + 6 1 2 755.88 N o M o v e m e n t O b s e r v e d During S c a n 17 + 6 1 2 Difficulty E ncoun t e r ed in A s s e s s m e n t o f Fe t a l Deta i ls 40356 1 1 + 4 1 4 Fe ta l S i z e C o r r e s p o n d s W i t h D a t e s 1 1 + 4 1 4 753.8 Prominent Fe t a l B ladder S e e n 40366 2 5 + 4 4 2 Imp: C l o a c a l D i so rde r 2 5 + 4 4 2 753.18 Smal l C y s t s S e e n in R e n a l F o s s a e 2 5 + 4 4 2 753 15 P o s s i b l e C y s t i c D y s p l a s i a of K i d n e y s 2 5 + 4 4 2 751 5 P o s s i b l e Di la ted B o w e l 2 5 + 4 4 2 753 48 P o s s i b l e Di la ted Ure ters 2 5 + 4 4 2 753.8 Bladder not v i s u a l i z e d 2 5 + 4 4 2 748.51 A s s o c i a t e d Le tha l Pu lmonary H y p o p l a s i a 2 5 + 4 4 2 753.00 N o Norma l A p p e a r i n g R e n a l St ructures S e e n 2 5 + 4 4 2 v i sua l i za t ion Difficult due to Ma te rna l B o d y Habi tus 40370 13 + 3 1 1 779.9 N o Fe ta l Hear t Bea t , IUD 13 + 3 1 1 778.0 Fe ta l H y d r o p s 40372 22 4 2 761.2 S e v e r e Ol igohydramnios 22 4 2 756.08 Abnorma l H e a d S h a p e 2 2 4 2 759.89 P o s s i b l e M e c k e l Gruber S y n d r o m e 22 4 2 747.2 Unab le to s e e P r o p e r Aor t ic A r c h 22 4 2 761 70 Incomplete B r e e c h P o s i t i o n 22 4 2 756.07 S m a l l Ante r io r & P o s s i b l e Pos te r io r C e p h a l o c e l e s 22 4 2 L a r g e B ladder that did not empty during e x a m 22 4 2 750.7 N o S t o m a c h Bubble S e e n 22 4 2 753.20 M o d e r a t e Bi la tera l Hydronephros i s 2 2 4 2 753.13 P o l y c y s t i c Kidney 22 4 2 755.38 Fe ta l Femur <10%cent i le 2 2 4 2 756.08 A b n H e a d S h a p e 40375 19 + 3 2 2 761.2 Ol igohydramnios i s present to s a m e degree after amnio infusion 19 + 3 2 2 759.18 S e c o n d a r y A d r e n a l Hyper t rophy 19 + 3 2 2 753.00 S u g g e s t i v R e n a l A g e n e s i s 19 + 3 2 2 753.00 S u g g e s t i v e D y s p l a s t i c K i d n e y s 19 + 3 2 2 753.88 V e r y S m a l l B ladder 19 + 3 2 2 K i d n e y s s e e m to be present but difficult to a s s e s s due to hyperechogen ic i ty 40514 2 3 1 2 747.5 2 V e s s e l C o r d 2 3 1 2 747.48 Bila tera l Supe r io r V e n a e C a v a e 2 3 1 2 742.39 H y d r o c e p h a l u s 2 3 1 2 759.30 Dext roca rd ia 2 3 1 2 747.28 L S i d e d A o r t a 2 3 1 2 742 48 S e p t u m Pel luc idum Not S e e n 2 3 1 2 747 38 Smal le r Pulmonary Artery Appendix II Ul t rasound Findings 130 Code E G A E G A Amniotic Method Narrow D i a g n o s i s : No Da t e s U / S Fbid of TA Code 2 3 1 2 746.00 Smal l Atret ic Pu lmonary Vahv'e 2 3 1 2 745 11 Double Outlet Right Vent r ic le 2 3 1 2 746.88 Smal le r Morpho log i ca l R Vent r ic le 2 3 1 2 745.49 V S D 2 3 1 2 Si tu s Indeterminate 2 3 1 2 759.30 Si tus Inversus 40131 17 14 + 1 1 1 756.08 P r o b o s c i s 17 14 + 1 1 1 742.26 A l o b a r Ho lop rosencepha ly 17 1 4 + 1 1 1 Hear t Difficult to A s s e s s 17 1 4 * 1 1 1 747.5 Sing le Umbi l ica l Ar te ry 17 1 4 + 1 1 1 755.09 Po lydac ty ly 17 1 4 + 1 1 1 742.48 Ethmocepha ly wi th Hypo te lo r i sm 17 14 + 1 1 1 742 48 P r e s e n c e o f a D o r s a l S a c Communica t ing wi th Monoven t r i cu la r C a v i t y 17 14 + 1 1 1 742 48 A b n C e r e b r a l C o r t e x 17 14 + 1 1 1 742 48 F u s e d Thalmi with no F a l x Demons t r a t ed 17 14 + 1 1 1 742 48 Monoven t r i cu la r C a v i t y 17 14 + 1 1 1 742 48 A b n Midl ine St ructures 40140 16 + 3 4 1 756.08 S u s p i c i o n o f F a c i a l Cleft 16 + 3 4 1 762.20 B l o o d Clo t O r g a n i z e d in Fundus 16 + 3 4 1 742 48 Abnorma l Fluid Con ta in ing P o s t e r i o r F o s s a 16 + 3 4 1 761 2 S e v e r e Ol igohydramnios 16 + 3 4 1 742.26 S u g g e s t e d Aloba r H o l o p r o s e n c e p h a l y 40117 13 1 1 - 1 2 1 4 P o s s i b l e M e n i n g o c e l e or e nc e pha loc e l e 13 1 1 - 1 2 1 4 754 22 Throax and A b d o m e n A p p e a r to be Doub led onto the h e a d 13 11 - 12 1 4 755 38 Only one L o w e r Limb S e e n 13 1 1 - 1 2 1 4 789.9 Difficult to m a k e a s s e s s m e n t o f Abdomina l S t ruc tures 13 1 1 - 1 2 1 4 756.1 S p i n e Canno t be T r a c e d in its entirety 40106 2 0 4 1 Difficurt E x a m B e c a u s e of Mate rna l S i z e a n d Ol igohydramnios 2 0 4 1 759.7 Imp: Probab le Urinary A s c i t e s , Anhydramnios and Hemive r t eb rae 2 0 4 1 754 73 Like ly C lub Foot , R S i d e 20 4 f 756.15 M i d T h o r a c i c Kink in S p i n e Probably D u e to 1/2 Ver t eb rae 20 4 1 753.01 R K i d n e y not s e e n 20 4 1 7538 Bladder not s e e n today 20 4 1 761.2 S e v e r e Ol igohydramnios 20 4 1 778.0 M a s s i v e A s c i t e s 40307 20 + 2 1 1 742.39 E v i d e n c e o f Inc reased La te ra l Ven t r i c l e s , Bi la tera l 20 + 2 1 1 742.39 H y d r o c e p h a l u s 40714 17 16 1 1 F i n e Deta i l S tudy Difficult to Fe ta l P o s i t i o n 17 16 1 1 228.1 L a r g e C y s t i c H y g r o m a 17 16 1 1 778.5 G e n e r a l i z e d S k i n E d e m a 17 16 1 1 511.9 Pleura l Effus ions 17 16 1 1 753 20 Bila tera l Hydronephrot ic and E d e m a t o u s k i d n e y s 17 16 1 1 754.73 Clubbing of Bo th Fee t 40713 3 3 + 6 1 2 755.51 C l e n c h e d H a n d s 3 3 + 6 1 A b n . G r o w t h 3 3 + 6 1 2 746 7 Hypop las t i c L Hear t 3 3 + 6 1 2 755.51 Over r id ing F inge r s 3 3 + 6 1 2 778.6 P o s s i b l e H y d r o c e l e 3 3 + 6 1 2 553 1 S m a l l O m p h a l o c e l e 3 3 + 6 1 2 742.38 Dila ted 3rd Vent r ic le , C i s t e r n a M a g n a + Occ ip i t a l Horns 3 3 + 6 1 742.23 Deffuse C e r e b e l l a r At rophy 3 3 + 6 1 2 742.20 Diffuse C e r e b r a l At rophy 3 3 + 6 1 2 742.42 C h o r o i d P l e x u s C y s t 3 3 + 6 1 2 Trunk a n d F e m u r a re 3 0 wk s i z e 3 3 + 6 1 753 38 Malro ta t ed L K i d n e y 3 3 + 6 1 2 756.08 Fe ta l H e a d i s 41 -42 wk s i z e 40710 16 1 1 Fe ta l Growth C o r r e s p o n d s to D a t e s 40720 18 + 3 1 5 + 1 1 1 228.1 C y s t i c H y g r o m a , with pos te r ior N u c h a l S k i n E d e m a 18 + 3 1 5 + 1 1 1 Other Deta i l s Not Ob ta ined 40743 ? 14 + 3 1 1 228 1 N u c h a l E d e m a (7 mm) Identified (- C y s t i c Hygroma) 7 14 + 3 1 1 762 8 A r e a o f unfused A m n i o n no ted 40743 16 + 2 1 1 75661 Like ly Diaphragmat ic Hern ia 16 + 2 1 1 750.7 Fe ta l S t o m a c h at S a m e L e v e l a s Fe ta l Heart 16 + 2 1 1 746 80 Hear t i s Slightly C h y e l a c e d to Right 40743 26 + 3 6 2 748.51 Letha l Pu lmonary H y p o p l a s i a 26 + 3 6 2 75551 H a n d s A p p e a r F i x e d in O p e n P o s i t i o n 26 + 3 6 2 756.08 S u g g e s t e d C l o v e r L e a f Skul l Deformity Appendix II Ultrasound Findings Code E G A No: D a t e s 26 + 3 26 + 3 2 6 + 3 E G A U / S Amniotic Method Narrow D i a g n o s i s : Fluid ot TA Code: 761.3 Po lyhyd ramn ios 756.44 Impress ion: Thana tophor ic Dwarf i sm 754.82 Smal l Be l l S h a p e d C h e s t 2 8 + 3 2 8 + 3 S e v e r e A s y m m e t r i c a l G r o w t h Retarda t ion , abdomen c i rcumference at 2 2 w k s S u g g e s t i v e o f C h r o m o s o m e Abnormal i ty 2 3 + 3 2 3 + 3 2 3 + 3 2 3 + 3 2 3 + 3 2 3 + 3 2 3 + 3 2 3 + 3 2 3 + 3 2 3 + 3 N o Fe t a l M o v e m e n t s During E x a m 750.30 P o s s i b l e E s o p h a g e a l A t r e s i a 750.7 N o S t o m a c h S e e n T o d a y 746.88 Pe r i ca rd i a l Effusions 511 9 P leura l Effusions 757.39 A n a s a r c a 746.77 A b s e n t Dias to l i c F l o w 778 5 G e n e r a l i z e d S k i n E d e m a 754 73 S u s p e c t e d Bi la tera l Club F e e t 778.0 A s c i t e s 19 19 19 742 48 Thalami appear rounder than usua l 742 48 Fluid Fi l led S tuc tures O c c u p y i n g Tempora l , Fronta l a n d to a l e s s e r degree O c c i p i t a l A r e a s 742 48 A b n . Intracranial Ana tomy 756 08 Abnorma l H e a d S i z e (< 10%cent i le) 742.26 Imp: A l o b a r o r L o b a r p rosencepha ly 744.88 I nc reased N u c h a l Th icken ing 756.08 Intraorbital D iamete r <5%centi le 4 chamber v i e w of Hear t Not Ob ta ined A V va tves H y p e r e c h o g e n i c 2 6 + 5 2 6 + 5 2 6 + 5 2 6 + 5 2 6 + 5 2 6 + 5 2 6 + 5 2 6 + 5 2 6 + 5 2 6 + 5 2 3 - 2 4 2 3 - 2 4 2 3 - 2 4 2 3 - 2 4 2 3 - 2 4 2 3 - 2 4 2 3 - 2 4 2 3 - 2 4 2 3 - 2 4 2 3 - 2 4 741 05 M i l d - M o d e r a t e Vent r icu lomegaly of lateral vent r ic les - N o Dilata t ion of 3rd Vent r ic le 742.20 Ce rebe l l um is not v i s u a l i z e d 741.05 The lower sp ine from approx. L1 is abnormal with dys raph i sm 764 s H e a d at the m e a n for 2 3 w k s while trunk at the m e a n for 24 w k s . A m n i o c e n t e s i s S u c c e s s f u l - s ingle tap 741.05 L o w e r sp ine , a smal l meningoce le 754 20 S c o l i o s i s , lower sp ine 755.51 Bo th F i s t s are c l e n c h e d 764.9 Fe t a l H e a d a n d Trunk m e a s u r e be low the 10th centi le for gest . a g e 754.73 Bo th F e e t a r e c lubbed 753.88 L a r g e Fe t a l B ladder P o s s i b l e Outlet Obs t ruc t ion 228.1 C y s t i c H y g r o m a Probab le C h r o m o s o m e Abnormal i ty 228.1 C y s t i c H y g r o m a 778.5 G r o s s G e n e r a l i z e d E d e m a 778.5 G e n e r a l i z e d S u b c u t a n e o u s E d e m a , Around H e a d a n d N e c k 2 1 + 6 2 1 + 6 2 1 + 6 2 1 + 6 2 1 + 6 20 + 2 2 0 + 2 20 + 2 2 0 + 2 2 0 + 2 742.38 742.48 742.28 756.08 M i l d La te ra l Ventr icular Di la t ion Abnorma l Cerebre l l a r R e g i o n S m a l l L u m b o s a c r a l M e n i n g o c e l e Obl i tera ted C i s t e m a M a g n a L e m o n S h a p e d Skul l U / S Conf i rms M e n s t r a l D a t e s 17 17 17 742.48 F u s i o n o f Thalmi 742.26 S ing le Ante r io r Ven t r i c le 742.26 Imp: H o l o p r o s e n c e p h a l y 749.29 S t rong S u s p i c i o n o f Cleft L ip 749.29 S t rong S u s p i c i o n o f Cleft Pa l a t e 742 48 B r a i n i s G r o s s l y Abnorma l N o Fe t a l Abnormal i ty Identified S i z e = D a t e s Ante r io r O m p h a l o c e l e Con ta in ing L i v e r 2 3 2 3 2 3 2 3 2 3 2 3 750.7 S t o m a c h Not Identified 746.88 W a l l o f L Vent r i c le A p p e a r s T h i c k e n e d 753.8 B ladder ? P re sen t 753.00 K i d n e y s not Pos i t i ve ly Identified 761.2 S e v e r e Ol igohydramnios 746 88 Heart R Vent r ic le A p p e a r s Dilated 2 0 + 4 2 0 + 4 2 0 + 4 779.9 IUD 742 39 M o d e r a t e Vent r icu lomegaly 747.5 P o s s i b l e S ingle Umbi l ica l Artery Appendix II Ul t rasound Findings Code E G A E G A Amniotic Method Narrow D iagnos i s : No: D a t e s U / S Fyd of TA Code: 41002 17 + 3 1 2 Apparent ly Norma l G e s t a t i o n 41013 17 1 1 Inc reased R i s k o f Aneuplo idy 17 1 1 751,24 P o s s i b l e A n a l A t r e s i a 17 1 1 228 1 C y s t i c Hygroma 17 1 1 751,58 Dila ted Tor tuous Rec to s igmo ida l C o l o n 17 1 1 777.6 S u g g e s t e d M e c o n i u m Per i toni t is 17 1 1 764 9 Fe ta l S i z e at 10%cent i l e 17 1 1 751.5 E c h o g e n i c B o w e l 41023 16 1 1 762.2 Large P l acen t a l L a k e is Presen t 16 1 1 764 9 I U G R 16 1 1 553.1 L a r g e Ompha loce l e Con ta in ing S t o m a c h a n d L ive r 16 1 1 4 c h a m b e r v i e w o f heart not s e e n 16 1 1 753.8 Bladder not identified with certainty 16 1 1 753 00 K i d n e y s not identified with certainty 41030 16 + 5 1 2 740,01 A c r a n i a / E x e n c e p h a l y 16 + 5 1 2 N o other fetal a n o m a l i e s s e e n today 41031 18 4 t 756.12 T h o r a c i c K y p h o s i s 18 4 1 753 00 K i d n e y s not Identified 18 4 1 553.1 L a r g e O m p h a l o c e l e 18 4 1 754.73 R C l u b b e d Foo t 18 4 1 755 38 Dependent L T i b / F i b / F o o t Not Identified 18 4 1 754,03 S e v e r e Do l ioocepha ly 18 4 1 744 8 F a c e could not be posi t ively examined 18 4 1 Heart cou ld not be posi t ively identified 18 4 1 761.2 S e v e r e Ol igohydramnios 41037 1 1 + 6 1 1 Normal Fe t a l G r o w t h 41040 16 + 5 3 1 761.2 M o d e r a t e Ol igohydramnios 16 + 5 3 1 758.69 Impress ion: Turners S y n d r o m e 16 + 5 3 1 228.1 M o d e r a t e S i z e C y s t i c H y g r o m a 16 + 5 3 1 Hear t i s Difficult to A s s e s s 16 + 5 3 1 751.5 E c h o g e n i c B o w e l 41033 30 + 4 2 9 5 3 747.5 2 V e s s e l C o r d 30 + 4 2 9 5 3 764 9 G r o w t h Re ta rda t ion 30 + 4 2 9 5 3 746.88 L a r g e L Vent r ic le 30 + 4 2 9 5 3 745.49 V S D 30 + 4 2 9 5 3 746,1 Tr icusp id A t r e s i a 41034 17 + 4 1 6 + 1 4 1 753 00 N o R e n a l St ructures S e e n 17 + 4 16 + 1 4 1 761.2 S e v e r e Ol igohydramnios 17 + 4 1 6 + 1 4 1 753,00 Impress ion: Bi la tera l R e n a l A g e n e s i s 41063 19 + 3 ' 1 756 44 Imp: Cons i s t en t wi th Thana tophor ic D y s p l a s i a . T y p e I 19 + 3 1 1 756 44 S e v e r e M i c r o m e l i c Dwarf i sm (all L o n g B o n e s A r e M a r k e d l y B e l w o the 10%cent i le) 19 + 3 1 1 755 88 L o n g B o n e s are B o w e d 19 + 3 1 1 O s s i f i c a t i o n of B o n e s , Skull , & Ver t eb rae i s Norma l 19 + 3 1 1 Skul l S h a p e and Intracranial St ructures a re Norma l 19 + 3 1 1 Fe ta l M o v e m e n t N o t e d 19 + 3 1 1 754.82 Bel l S h a p e d Thorax D u e T o R ib C a g e Nar rowing 41076 1 7 + 1 1 1 N o Fe ta l A n o m a l i e s S e e n T o d a y 41033 1 6 + 1 1 1 S i z e a n d Ana tomy A p p e a r Norma l 41037 11 1 2 N o S a f e S i te Ava i l ab le for C V S - r ebooked for genet ic amnio 11 1 2 U / S Conf i rms M e n s t r a l D a t e s 11 1 Uterus Re t rove r t ed with ? large ant. f ibroid o r uterine cont rac t ion 41005 19 + 5 1 1 754.73 Bila tera l C lub F e e t 19 + 5 1 1 741,99 S p i n a l D y s r a p h i s m at T 1 0 19 + 5 1 1 756,08 A s s o c i a t e d L e m o n S h a p e d Skul l 19 + 5 1 1 741.01 Arno ld Ch ia r i Mal format ion 19 + 5 1 1 742,39 Ventr icu lomegaly 19 + 5 1 1 764,9 H e a d Biomet ry at 10%cent i le 41214 16 + 1 3 1 228.1 C y s t i c H y g r o m a 16 + 1 3 1 778.0 Fe ta l H y d r o p s 16 + 1 3 1 761.2 M o d e r a t e Ol igohydramnios 41210 1 5 + 6 1 1 S i z e a n d Ana tomy A p p e a r Norma l 41220 16 + 1 1 2 753.8 Fe ta l B ladder not S e e n Appendix II Ul t rasound Findings 133 Code E G A E G A Amniotic Method Narrow D i a g n o s i s : No: D a t e s U / S Fluid of TA Code: 16 + 1 1 2 750.7 Fe ta l S t o m a c h not S e e n 16 + 1 1 2 754.73 Both F e e t A p p e a r C lubbed 1 6 + 1 1 2 Short A x i s V i e w of Hear t C o u l d Not B e Vi su l a i zed , P o s s i b l e Anoma ly S u s p e c t e d 1 6 + 1 1 2 755.51 Fe ta l H a n d s are F l e x e d and Immobile 1 6 + 1 1 2 Imp: S u s p e c t Ar throgrypos i s /P t e ryg ium S y n d r o m e or R i s k o f C h r o m o s o m e A b n 1 6 + 1 1 2 N o movement o f extremit ies s e e n 16 + 1 1 2 778.0 A s c i t e s S u s p e c t e d 16 + 1 1 2 511.9 Minima l Bi la tera l P leura l Effus ions S u s p e c t e d 16 + 1 1 2 755.88 L i m b s are F l e x e d 1 6 + 1 1 2 228.1 L a r g e C y s t i c H y g r o m a Involving N e c k , H e a d & A b d o m e n 16 + 1 1 2 778.5 Diffuse S k i n E d e m a 41229 16 + 5 1 5 * 1/2 1 1 778.0 Fe ta l Hydrops 16 + 5 15 * 1/2 1 1 778.5 G e n e r a l i z e d S u b c u t a n e o u s E d e m a 16 + 5 15 * 1/2 1 1 778.0 Fe ta l A s c i t e s 16 + 5 1 5 * 1/2 1 1 511.9 Per i ca rd i a l Effusion 41211 13 + 4 1 1 228.1 C y s t i c H y g r o m a for Occ ipu t to M i d A b d o m e n 41235 22 + 1 1 1 748.10 A b s e n t N a s a l S e p t u m a n d N a s a l St ructures 22 + 1 1 • 1 749.29 Cleft Pa l a t e 22 + 1 1 1 743.67 Hypop las t i c Orbit o n R (poss ib le soft t i s sue m a s s or prominence) 22 + 1 1 1 743.67 Hypop las t i c Orbit o n L with G l o b e Not S e e n 2 2 + 1 1 1 742.48 Absen t Fafx 2 2 + 1 1 1 742.48 Normal T h a l a m u s a n d Midbra in St ructures Not S e e n 22 + 1 1 1 74 2 48 L a r g e Rt La te ra l Vent r ic le W h i c h C r o s s e s Midl ine 22 • 1 1 1 742 48 S m a l l L La te ra l Vent r ic le 22 + 1 1 1 742.20 Diso rgan i zed a n d Hypop las t i c C o r t i c a l T i s s u e L C e r e b r u m 22 • 1 1 1 742.1 M i c r o c e p h a l y 22 + 1 1 1 742.48 Imp: S e v e r e Fo reb ra in a n d F a c i a l A n o m a l i e s 2 2 + 1 1 1 749.29 Cleft L ip 41267 15 + 3 14 3 1 761.2 M o d e r a t e Ol igohydramnios 15 + 3 14 3 1 744.88 N u c h a l E d e m a from H e a d to Thorax 15 + 3 14 3 1 753.88 G r o s s l y D i s t ended Fe ta l Bladder 15 + 3 14 3 1 742.42 Bila tera l C h o r o i d P l e x u s C y s t s 15 + 3 14 3 1 753.3 P o s s i b l e H y p o e c h o g e n i c L K i d n e y 15 + 3 14 3 1 778.0 A s c i t e s 41230 16 1 1 Abnorma l Hear t ? Left S i d e 16 1 1 553.1 L a r g e O m p h a l o c e l e - con ta ins l iver predominantly 16 1 1 Abnorma l Hear t , S m a l l Aor ta 16 1 1 Fe ta l G r o w t h i s Appropr ia te F o r D a t e s 16 1 1 742.42 Bila tera l 8 mm C h o r o i d P l e x u s C y s t s 41234 17 2 2 740.01 E x e n c e p h a l y (Acran ia ) 17 2 2 741.90 S u s p e c t e d R a c h i s c h i s i s involv ing C e r v i c a l a n d T h o r a c i c Sp ine 17 2 2 Examina t ion of ana tomic detail i s subopt imal due to maternal body habitus and low amniot ic fluid 17 2 2 553.1 S u s p e c t A Smal l Ompha loce l e 17 2 2 N o Other A n o m a l i e s S e e n 41290 10 + 5 1 1 Ult rasound Conf i rms M e n s t r a l D a t e s 41200 15 + 5 1 2 * 4 / 1 4 * 4 1 4 779.9 Intrauterine D e m i s e 1 5 + 5 1 2 * 4 / 1 4 * 4 1 4 744.88 N u c h a l T r a n s l u c e n c y 1 5 * 5 12*4/14+4 1 4 756.15 Sp ine W i d e n i n g in T h r o a c i c R e g i o n 15 + 5 1 2 * 4 / 1 4 * 4 1 4 756.08 H e a d m e a s u r e d - 1 2 + 4 w k s s ize 1 5 * 5 12+4/14+4 1 4 F e m u r m e a s u r e d - 1 4 + 4 w k s s i z e 1 5 * 5 12*4/14+4 1 4 756.08 Hypop las t i c Skul l B o n e A p p e a r a n c e 41400 18 1 1 756.71 G a s t r o s c h i s i s , Anter ior B o d y W a l l Defec t 41404 2 3 2 3 1 2 N o Other A n o m a l i e s S e e n 2 3 2 3 1 2 741.00 Ventr icu lomegaly 2 3 2 3 1 2 756.08 L e m o n S i g n 2 3 2 3 1 2 754.73 Bila tera l Club F e e t 2 3 2 3 1 2 741.00 E x t e n s i v e S p i n a l D y s r a p h i s m - o p e n from T 1 2 - L 1 to S a c r u m 2 3 2 3 1 2 A m n i o - S ing le C l e a r T a p , F / H +ve after 41427 19 16 + 6 1 1 756.08 L e m o n S h a p e d Skul l 19 16 + 6 1 1 741.01 Ventr icu lomegaly 19 16 + 6 1 1 Hear t Difficult to S e e 19 16 + 6 1 1 756.12 K y p h o s c o l i o s i s 19 16 + 6 1 1 756.18 Hemiver tebrae 19 16 + 6 1 1 754.22 A c u t e Curva ture of S p i n a l C o r d 19 16 + 6 1 1 742 48 B a n a n a S h a p e d Ce rebe l l um 19 16 + 6 1 1 741.01 M e n i n g o m y e l o c e l e 19 16 + 6 1 1 741.01 Arno ld Ch i a r i Mal format ion 41431 Appendix II Ul t rasound Findings 134 E G A E G A Amniotic Method Narrow D i a g n o s i s : D a t e s U / S Fluid of TA Code; 1 8 - 1 9 1 6 + 1 4 2 753.00 N o Definite K i d n e y s 1 8 - 1 9 16 • 1 4 2 761.2 S e v e r e Ol igohydramnios 1 8 - 1 9 16 • 1 4 2 751.5 H y p o e c h o g e n i c A r e a in P e l v i s L o o k s M o r e L i k e Di la ted B o w e l Not Norma l Bladder 1 8 - 1 9 16 + 1 4 2 750.7 S t o m a c h may be present 1 8 - 1 9 16 + 1 4 2 751.5 E c h o g e n i c B o w e l 1 8 - 1 9 1 6 + 1 4 2 C i s t e r n a M a g n a Not S e e n 1 8 - 1 9 1 6 * 1 4 2 Hear t Deta i l Not S e e n 1 8 - 1 9 1 6 + 1 4 2 Difficult to A s s e s s Fe t a l A n a t o m y 1 8 - 1 9 1 6 * 1 4 2 764.9 A s y m m e t r i c a l I U G R 1 8 - 1 9 1 6 + 1 4 2 Cerebe l lum Not S e e n 1 6 * 2 1 , 744.88 Increased N u c h a l Th icken ing 1 6 * 2 1 1 4 C h a m b e r V i e w of Heart C o u l d Not B e S e e n , 3 All Structural C a r d i a c Ana tomy S e e n and A p p e a r Norma l 1 3 N o O b v i o u s Fea tu res of Down ' s S y n d r o m e by U / S 1 9 * 3 16 + 3 4 , 764.9 I U G R , Fe t a l S i z e D o e s Not C o r r e s p o n d T o D a t e s 1 9 * 3 16 + 3 4 1 761.2 S e v e r e Ol igohydramnios 19 + 3 16 + 3 4 1 753.00 Impress ion: Bi la tera l R e n a l A g e n e s i s 1 9 * 3 16 + 3 4 1 753.8 N o Fe ta l B ladder V i s u a l i z e d 19 + 3 16 + 3 4 1 753.0 N o Fe ta l K i d n e y s V i s u a l i z e d 18 + 2 1 7 * 1 , , 756.61 L Diaphragmat ic H e m i a 18 + 2 1 7 + 1 1 1 746.80 Dext rapos i t ion o f the Hear t 17 , , 749.11 Bila tera l Cleft L i p s 17 1 1 746.88 P o s s i b l e Hypoplas t i c L Vent r ic le 17 1 1 746.88 P o s s i b l e Hemivent r ic le 2 3 * 1 4 3 74S.88 Enla rged R Vent r ic le 2 3 * 1 4 3 228.1 L a r g e C y s t i c H y g r o m a 2 3 • 1 4 3 778.5 E d e m a E n c o m p a s s i n g the Ent i re Fe t a l B o d y 2 3 + 1 4 3 511.9 Pleu ra l Effusion 2 3 + 1 4 3 746.6 Abnormal Mit ra l V a l v e 2 3 + 1 4 3 746.88 Enla rged R Atruim 2 3 * 1 4 3 746,88 S m a l l L Vent r ic le 2 3 + 1 4 3 746.88 S m a l l L Atr ium 2 3 + 1 4 3 778.0 A s c i t e s 17 + 1 , 2 742,48 B a n a n a S i g n P re sen t 17 + 1 i 2 741,99 S p i n a l L e s i o n , Star t ing L 3 - S a c r a l 17 + 1 1 2 756.08 L e m o n S i g n , Abnormal ly S h a p e d H e a d 2 5 - 2 6 , 2 Normal Minera l i za t ion 2 5 - 2 6 i 2 755.88 M i l d B o w i n g 2 5 - 2 6 i 755,88 All Ext remi t ies S e v e r e l y a n d Diffusely shor t ened with no fractures 2 5 - 2 6 i 2 755.51 H a n d Ar th rogrypos i s 2 5 - 2 6 1 2 754.82 V e r y S m a l l Thorax 2 5 - 2 6 1 2 756 44 Impress ion: Thana tophor ic Dwar f i sm or Other Ske le ta l D y s p l a s i a 2 5 - 2 6 2 754.73 C l u b b e d F e e t 17 + 4 , 1 746.88 L a r g e R Vent r ic le 17 + 4 i 1 753.20 M o d e r a t e Fe t a l Hydronephros i s , Bi la tera l 17 + 4 i 1 746.7 Impress ion: Hypoplas t i c L Hear t 17 + 4 1 1 746.86 Prominent ? Papi l lary M u s c l e s 17 + 4 1 1 745.63 Probab le A V Septa ! Defec t 17 + 4 1 ' 746,88 Hypop las t i c L Vent r ic le 19 3 1 4 C h a m b e r v i e w of heart i s technical ly difficult, 4 c h a m b e r s a n d 2 grt v e s s e l s identif 19 1 753.00 Probable Dysp la s t i c R e n a l Deve lopment 19 3 1 753.8 P o s s i b l e smal l bladder s e e n 19 3 1 753.00 N o normal renal s tructures s e e n 19 3 1 Techn ica l ly Difficult C a r d i a c S c a n 19 3 1 756.0 Sp ine S e e n wi th Norma l A p p e r a n c e 19 3 1 4 C h a m b e r s A n d 2 G t V e s s e l s Identified 12 + 3 1 1 744.88 13 mm N u c h a l Th icken ing 12 + 3 1 1 228.1 C y s t i c H y g r o m a 12 + 3 1- 1 S i z e Is C o n s i s t e n t W i t h M e n s t r a l Da t e s 12 + 3 ' 1 Imp: A s s o c i a t e d wi th C h r o m o s o m a l A n o m a l i e s 18 1 8 + 1 w k 3 2 752,88 ? A m b i g u o u s Gen i t a l i a 18 1 8 + 1 wk 3 2 762.8 ?? Ret romembrana l Clo t o n the R - P o s t . Wal t ( 6 x 3 cm) 18 1 8 + 1 w k 3 2 753.20 R Fe ta l Hydroneph ros i s ( m e a s u r e d 18 X 10 m m , S e v e r e ) 18 1 8 + 1 w k 3 2 4 C h a m b e r Hear t Not W e l l S e e n 18 1 8 + 1 wk 3 2 761.2 M o d e r a t e Ol igohydramnios 18 1 8 + 1 wk 3 2 753.32 L K i d n e y Not W e l l S e e n ? H o r s e s h o e Kidney 18 1 8 + 1 wk 3 2 746.99 Definate Hear t A n o m a l y Appendix II Ult rasound Findings Code E G A E G A Amniotic Metnod Narrow D iagnos i s : No: D a t e s U / S Fluid of TA Code: 41640 24 2 2 + 1 / 2 1 2 N o O b v i o u s A S D or V S D 24 2 2 + 1/2 1 2 746.1 Tr i cusp id V a l v e Th icken ing with g o o d mot ion 24 2 2 + 1/2 1 2 752.86 P o s s i b l e Ambiguous Gen i t a l i a 24 2 2 + 1/2 1 2 742.38 Enla rged C y s t e m a M a g n a 2 4 22 + 1/2 1 2 750.7 S t o m a c h Not S e e n 2 4 22 + 1/2 1 2 742.38 M i l d Di la t ion of La te ra l Ven t r i c l e s 2 4 2 2 + 1/2 1 2 764.9 Fetus at the 10%cent i l e for ges ta t iona l age 24 2 2 + 1 / 2 1 2 753.20 M i l d Bi la tera l Hydronephros i s 24 2 2 + 1 / 2 1 2 742.48 W i d e n i n g o f S p a c e B twn C e r e b e l l a r H e m i s p h e r e s 41667 14 + 3 1 1 740.02 A n e n c e p h a l i c Fe tus 41678 18 + 1 1 1 756,17 S a c r o c o c c y g e a l T e r a t o m a , S a c r a l mostly cys t i c m a s s with sol id componen t s 15 + 6 1 3 N o Fe ta l A n o m a l i e s S e e n T o d a y 41698 2 0 + 1 1 2 754.73 P o s s i b l e Club F e e t 2 0 + 1 1 2 754.22 Unusua l L o r d o s i s / S c o l i o s i s Pa t te rn of Sp ine 2 0 + 1 1 2 747.21 P o s s i b l e M i l d H y p o p l a s i a of A o r t a 2 0 + 1 1 2 511.9 Pleural Effusions 2 0 + 1 1 2 778 0 Abdomina l A s c i t e s 2 0 + 1 1 2 228.1 L a r g e C y s t i c H y g r o m a 2 0 + 1 1 2 778.0 Hydrops Affecting the Entire Trunk 41811 21 + 1 1 1 754.73 Bila tera l Club Fee t 21 + 1 1 1 511.9 Pleura l Effus ions 21 + 1 1 1 746.88 Per i ca rd i a l Effus ions 21 + 1 1 1 778.0 A s c i t e s 21 + 1 1 1 228.1 L a r g e C y s t i c Hygroma l F r o m H e a d to A b d o m e n 41814 17 + 3 1 2 741.99 Like ly N T D , lower sp ine a p p e a r s s p l a y e d 17 + 3 1 2 745.20 Probab ly Te t ra logy o f Fallot 17 + 3 1 2 746.86 E c h o g e n i c Papi l la ry M u s c l e s 17 + 3 1 2 747.38 S m a l l Pu lmonary Ar te ry 17 + 3 1 2 746.88 S m a l l R Ventr icular Outf low Trac t 17 + 3 1 2 747.26 L a r g e A o r t a Over r id ing the S e p t u m 17 + 3 1 2 745.49 V S D 17 + 3 1 2 742.39 Fe ta l Vent r icu lomega ly 17 + 3 1 2 756.12 K y p h o s i s (What appea r s to be hemiver tebrae) 41817 10 + 3 1 1 U / S G e s t a t i o n = Da te s 41869 2 2 + 2 1 3 753.88 Bladder W a l l is T h i c k e n e d 2 2 + 2 1 3 753.16 R Kidney is R e p l a c e d by a C y s t i c M a s s 2 2 + 2 1 3 753 20 M i l d L R e n a l P e l v i s Dila ta t ion 2 2 + 2 1 3 778,0 M o d . - S e v e r e A s c i t e s 41876 17 1 1 740 02 A n e n c e p h a l y 41878 16 15 + 1 2 2 756.08 Abnormal ly S h a p e d H e a d 16 15 + 1 2 2 761.2 M i l d Ol igohydramnios 16 15 + 1 2 2 778.0 Fe ta l Hydrops 16 15 + 1 2 2 ?? A n o r a r e a 16 15 + 1 2 2 778.0 A s c i t e s 16 15 + 1 2 2 762.8 C o m p l e t e S e p a r a t i o n o f A m n i o n 16 1 5 + 1 2 2 746.86 E c h o g e n i c M y o c a r d i u m 16 1 5 + 1 2 2 4 C h a m b e r V i e w o f Hear t Not S e e n 16 15 + 1 2 2 511.9 Pleura l Effus ions 41882 18 + 3 17 + 1 wk 1 1 740.01 Fe ta l A c r a n i a / E x e n c e p h a l y 18 + 3 17 + 1 wk 1 1 741.90 R a c h i s c h i s i s upper c e r v i c a l sp ine 18 + 3 1 7 + 1 wk 1 1 764.9 I U G R , S i z e cons i s ten t wi th 17 w k s 41886 17 1 2 754.73 S u s p e c t e d Bi la tera l C lub F e e t 17 1 2 747.21 S u s p e c t e d Hypop las t i c A o r t a 17 1 2 746.88 S u s p e c t e d Hypop las t i c L Vent r ic le 17 1 2 753.0 Fe ta l K i d n e y Not W e l l S e e n 17 1 2 753.8 Fe ta l B ladder Not S e e n 17 1 2 750.7 Fe ta l S t o m a c h Not S e e n 17 1 2 228.1 Large E x t e n s i v e C y s t i c H y g r o m a , Surrounding H e a d , N e c k , Thorax a n d A b d o m e n 42018 17 1 1 Fe ta l S i z e Appropr ia te Fo r Da t e s 17 1 1 N o A n o m a l i e s S e e n T o d a y 42023 17 + 2 16 1 1 753.20 M i n . Bilat . R e n a l P e l v i s Di la t ion 17 + 2 16 1 1 N o Abnormal i t ies S e e n T o d a y 42033 18 + 4 1 3 C a r d i a c S c a n : T h e c a r d i a c s tructures a n d connec t ions a re normal Appendix II Ult rasound Findings Code E G A E G A Amniotic Metriod Narrow D i a g n o s i s : No: D a t e s U / S Fluid of TA Code: 18 + 4 1 3 Dichor ion ic Twins - normal growth x 2 18 + 4 1 3 759.30 Si tu s Inversus To ta l i s onfirmed in both twins 18 + 4 1 3 N o other fetal anomaly s e e n today 18 + 4 1 3 Normal Amnio t ic Fluid Vo lume x 2 18 + 4 1 3 The C e r v i x is Long a n d C l o s e d 18 + 4 1 3 Sugges t Fo l low up in 4 w e e k s 18 + 4 1 3 759 30 C a r d i a c S c a n : Bo th twins have si tus inversus totalis 42044 26 + 1 2 3 + 2 34 2 Deta i l ed V i e w o f Hear t Not S e e n 2 6 + 1 2 3 + 2 34 2 754.73 P o s s i b l e C lub F e e t 26 + 1 2 3 + 2 34 2 756.08 B r a c h y c e p h a l i c H e a d S h a p e 26 + 1 2 3 + 2 34 2 749.19 Prominent C S P 26 + 1 2 3 + 2 34 2 761.2 M o d . T o S e v e r e Ol igohydramnios 26 + 1 2 3 + 2 34 2 Deta i l ed V i e w o f Ext remi t ies Not S e e n 26 + 1 2 3 + 2 34 2 789.5 C y s t i c A r e a in P e l v i s 26 + 1 2 3 + 2 34 2 747.5 Single Umbi l ica l Artery 2 6 + 1 2 3 + 2 34 2 764 9 S e v e r e Symmet r i c I U G R 2 6 + 1 2 3 + 2 34 2 744.9 F a c e Not S e e n 26 + 1 2 3 + 2 34 2 756.61 S u s p e c t e d Diaphragmat ic Hern ia 42065 18 1 1 751.5 E c h o g e n i c B o w e l 18 1 1 746.80 Hear t D e v i a t e d to Right 18 1 1 747.5 2 V e s s e l C o r d 18 1 1 756.61 P r e s u m e d Diaphragmat ic Hern i a , wi th S t o m a c h a b o v e diaphragm on Left 42066 16 1 2 - 1 3 1 1 744.88 Signif icant N u c h a l E d e m a 16 1 2 - 1 3 1 1 742.26 P o s s i b l e H o l o p r o s e n c e p h a l y (single vent r ic le , no midline) 16 1 2 - 1 3 1 - 1 Other A n o m a l i e s Canno t B e Exludend o r E v a l u a t e d 16 1 2 - 1 3 1 1 764.9 S e v e r e I U G R 420S7 11 + 1 1 1 Uncompl i ca t ed Transabdomina l C V S 11 + 1 1 1 S i z e Equa l s D a t e s 42248 19 + 3 18 + 3 4 2 755.38 N o L F ib ia S e e n 19 + 3 18 + 3 4 2 759.89 Impress ion: C a u d a l R e g r e s s i o n S e q u e n c e 19 + 3 18 + 3 4 2 761 2 S e v e r e Ol igohydramnios 19 + 3 18 + 3 4 2 753.0 N o K i d n e y s S e e n 19 + 3 18 + 3 4 2 746.88 S m a l l Pe r i ca rd ia l Effusion 19 + 3 18 + 3 4 2 755.31 N o R F e m u s , T ib ia , F ib i a S e e n 19 + 3 18 + 3 4 2 753.8 Bladder Not S e e n 42214 16 + 2 1 1 228.1 C y s t i c H y g r o m a 16 + 2 1 1 778.0 Fe ta l Hydrops (Skin Edema) 16 + 2 1 1 511.9 Pleura l Effusions 16 + 2 1 1 M a n y Deta i ls Canno t B e S e e n 42261 17 + 5 16 + 6 1 2 740.02 A n e n c e p h a l y 42268 31 2 8 - 2 9 1 2 741.99 S e v e r e M y e l o m e n i g o c e l e 31 2 8 - 2 9 1 2 756.08 P o s s i b l e P r o b o s c i s 31 2 8 - 2 9 1 2 745.49 V S D 31 2 8 - 2 9 1 2 745 63 A V C a n a l Defect 31 2 8 - 2 9 1 2 553.1 Ompha loce l e 31 2 8 - 2 9 1 2 742.48 Comple te ly D i so rgan i zed B r a i n 42289 16 + 3 1 5 + 3 1 2 511.9 R Pleura l Effus ions 16 + 3 1 5 + 3 1 1 742.00 Occ ip i t a l E n c e p h a l o c e l e 16 + 3 1 5 + 3 1 2 742.48 Hernia t ion o f Cerebe l lum 16 + 3 1 5 + 3 1 2 553.1 L a r g e Ompha loce l e 16 + 3 15 + 3 1 2 746.88 Levoro ta t ion o f the Hear t 16 + 3 15 + 3 1 2 753.20 M i l d Unilateral L Hydroneph ros i s 16 + 3 15 + 3 1 2 759.89 P o s s i b l e M e c k e l S y n d r o m e 16 + 3 15 + 3 1 2 P o s s i b l e Aneuplo idy 16 + 3 15 + 3 1 2 742.39 M i l d Di la t ion of La t e r a l and 3rd Ven t r i c l e s 42294 14 + 5 1 1 751.5 E c h o g e n i c B o w e l 14 + 5 1 1 511.9 Bila tera l P leura l Effus ions 14 + 5 1 1 228.1 V e r y E x t e n s i v e C y s t i c H y g r o m a , from h e a d to L o w e r A b d o m e n 42336 18 16 + 2 1 1 764.9 I U G R 18 16 + 2 1 1 746.88 S m a l l L Vent r i c le 18 16 + 2 1 1 746.88 Dila ted R Atr ium 18 16 + 2 1 1 742.26 H o l o p r o s e n c e p h a l y 18 16 + 2 1 1 756.08 Hyper te lo r i sm 42401 15 + 5 1 1 U / S today i s Cons i s t en t with P r e v i o u s S e e n F o r D a t e s / S i z e 42414 11 + 1 1 1 Transabdomina l C V S - single aspi ra t ion for adequa te t i s sue , f/h +ve after 11 + 1 1 1 Ultrasound Conf i rms M e n s t r a l D a t e s Appendix II E G A Da te s E G A U / S Ultrasound Findings 137 Amniotic Method Narrow D i agnos i s : Fkjid of TA Code 19 + 2 19 + 2 19 + 2 1 8 + 1 wk 1 8 + 1 wk 1 8 + 1 wk Outflow Trac t s , S V C , IVC appear Norma l M o d e r a t e S i z e V S D with A V C a n a l T y p e Malformat ion Fe t a l S i z e at 10%cent i l e 2 3 2 3 2 0 20 M i l d to M o d . Ol igohydramnios Symmet r i ca l I U G R Fe ta l S i z e La rge r than E x p e c t e d by Da te s 16 + 6 16 + 6 16 + 6 761,2 753.00 776.0 • S e v e r e Ol igohydramnios Bi la tera l R e n a l A g e n e s i s P o s s i b l e Fe t a l H y d r o p s 1 8 + 1 1 8 + 1 754.73 Bi la tera l Club F e e t 755 66 L o w e r Limb Deformity 741.99 P robab le D y s r a p h i s m - Lumbar Sp ine Ver tebra l A n o m a l y 2 3 2 3 2 3 2 3 22 + 2 22 + 2 22 + 2 2 2 + 2 2 2 + 2 2 2 + 2 756,08 761.3 756.50 756.44 Smal l BeO-Shaped H e a d M o d . Po lyhydramnios A b n L o n g B o n e Deve lopment , Underminera l iza t ion + B l o s s i n g Sugges t Thana tophor ic D w a r p h i s m Su g g e s t O s t e o g e n e s i s Imperfecti Su g g e s t C a m p o m e l i a 13 + 3 13 + 3 13 + 3 13 + 3 13 + 3 13 + 3 779 9 761,2 764 9 P o s s i b l e D a n d y - W a l k e r Matformation, C y s t i c Structure in P o s t . F o s s a Bi la tera l P leura l Effusions Large C y s t i c H y g r o m a Intrauterine Fe t a l D e m i s e , During S c a n M o d e r a t e Ol igohydramnios G r o w t h L e s s T h a n E x p e c t e d 16 + 2 1 6 * 2 16 + 2 16 + 2 741 01 Ch i a r i Mal format ion 742 39 M i l d Hydrocepha lus 742 48 C h o r o i d P l e x u s C y s t 741.99 D y s r a p h i s m Lumbar S p i n e A r e a 17 + 3 17 + 3 15 15 L a r g e C y s t i c H y g r o m a S u g g e s t i v e of Aneuplo idy Bi la tera l P leura l Effusion M i l d Ol igohydramnios Hydrop ic Fe tu s 18 + 5 18 + 5 18 + 5 18 + 5 18 + 5 18 + 5 17 + 5 17 + 5 17 + 5 17 + 5 17 + 5 17 + 5 742.48 C h o r o i d P l e x u s i s Inhomogeneous a n d E c h o p o o r Centra l ly , but no c y s t s 755 26 Absen t R R a d i u s N o Other A n o m a l i e s S e e n T o d a y 755,28 Short , Irregular U l n a 755 52 F l exed W r i s t 755,50 S e p a r a t e P h a l a n g e s are not Identified 17 + 4 1 7 * 4 17 + 4 Probab le C H D 755 26 Bi la tera l R a d i a l H y p o / A p l a s l a 755 51 Bi la tera l R a d i a l D e v i a t i o n of H a n d s 13 + 2 13 + 2 1 3 * 2 12 + 1 1 2 * 1 12 + 1 228 1 V e r y E x t e n s i v e C y s t i c H y g r o m a 778.5 S k i n E d e m a Involving H e a d , N e c k a n d A b d o m e n 764,9 S i z e is l e s s than e x p e c t e d for da tes 2 8 2 8 N o Other Major A n o m a l i e s S e e n 761.2 O l igohydramnios 779.9 Intrauterine D e m i s e 756 71 Abdomina l W a l l Defec t Cons i s t en t with G a s t r o s c h i s i s 756 08 Over lapp ing Sutures 754.03 D o l i c o c e p h a l y 1 0 + 1 1 0 + 1 1 0 + 1 14 + 2 14 + 2 14 + 2 Norma l P l a c e n t a Norma l Growth M o d . - S e v e r e Ol igohydramnios 1 6 - 1 1 6 - 1 1 6 - 1 1 6 - 1 1 6 -1 6 -1 6 - 1 16 778.0 A s c i t e s a r e N o t e d 511.9 Bi la tera l P leura l Effus ions 751.5 B o w e l i s E c h o g e n i c 753.0 K i d n e y s a re Not C lea r ly Identified 4 C h a m b e r V i e w o f Hear t Is Not W e l l S e e n 753.8 B ladder Canno t B e Identified 762.28 P l a c e n t a Is Inhomogeneous & Large 228.1 Ext reme C y s t i c H y g r o m a Ar i s ing F r o m the N e c k 762,28 Th ick P l a c e n t a Appendix II Ultrasound Findings Code E G A E G A Amniotic Method NaiTow D iagnos i s : No: D a t e s U / S FKjid of TA Code: 16 + 5 2 1 758.69 Like ly Turner S y n d r o m e 16 + 5 2 1 778.5 G e n e r a l i z e d S u b c u t a n e o u s E d e m a 16 + 5 2 1 228.1 Bila tera l C y s t i c H y g r o m a 42642 1 9 * 2 18 1 2 N o L Vent r ic le 19 + 2 18 1 746 88 Large R Atr ium 1 9 * 2 18 1 746.88 S m a l l L Atr ium 19 + 2 18 1 2 Sing le v i s i b l e Vent r ic le « R V O T 1 9 * 2 18 1 2 746.7 L Vent r i c le H y p o p l a s i a 19 + 2 18 1 2 Ductus going to smal l a r c h 42671 14 1 2 N o other anomal i e s s e e n today 14 1 2 740.01 A c r a n i a 14 1 756.14 Abnorma l W i d e n i n g o f C e r v i c a l Sp ine 42634 1 6 + 1 14 • 1 3 1 761.2 M o d e r a t e Ol igohydramnios 1 6 + 1 14 + 1 3 1 762.28 S u g g e s t i v e Par t ia l M o l a r C h a n g e in P l a c e n t a 16 + 1 14 + 1 3 1 553 1 Smal l Ompha loce l e 1 6 + 1 1 4 + 1 3 1 751 5 Highly E c h o g e n i c Smal l B o w e l 1 6 + 1 14 + 1 3 1 758 58 S u s p e c t Triploidy 1 6 * 1 14 + 1 3 1 762 28 S u s p e c t Par t ia l M o l e (P lacenta) 1 6 + 1 14 + 1 3 1 7649 S m a l l for G e s t a t i o n a l A g e 42691 16 1 1 762 8 L o o s e Amnio t ic M e m b r a n e 16 1 1 C r a n i u m Presen t 42304 15 + 1 1 1 742.23 Cerebe l l um i s ei ther absent o r hypoplas t ic - tentorium (sic) i s not t ense from obst . at this s tage 15 + 1 1 1 228 1 C y s t i c H y g r o m a Identified wi th E d e m a to M i d Throax 15 + 1 1 1 U / S C o n s i s t e n t W i t h M e n s t r a l D a t e s 1 5 + 1 1 1 758.69 Imp: P robab ly Turner S y n d r o m e 1 5 * 1 1 1 742.46 P o s t e r i o r F o s s a C y s t -1 5 + 1 1 1 742.38 P o s s i b l e M i l d Di la t ion o f 3rd Vent r ic le 42310 1 9 * 2 19 + 1/2 wk 1 1 764.9 A s ymmet r i c I U G R 1 9 * 2 19 + 1/2 wk 1 1 754.9 7 F e m u r At 10%cent i l e - Other L o n g B o n e s Norma l 19 + 2 19 + 1/2 wk 1 1 Imp: C h r o m o s o m a l Anoma ly 1 9 * 2 1 9 + 1 /2wk 1 1 756.14 W i d e n i n g of the C e r v i c a l Sp ine 1 9 * 2 19 + 1/2 wk 1 1 7507 S t o m a c h is Not W e l l S e e n 1 9 * 2 19 + 1/2 w k 1 1 753 8 Bladder Not S e e n 19 + 2 19 + 1/2 wk 1 1 753.20 Bila tera l Fe t a l Hydronephros i s ( 4 & 5 mm) 19 + 2 1 9 + 1/2 wk 1 1 742.39 Late ra l Ven t r i c l e s a r e Prominent 19 + 2 19 + 1 / 2 w k 1 1 753.16 Both K i d n e y s a re E c h o g e n i c - P robab ly D y s p l a s t i c 19 + 2 19 + 1/2 wk 1 1 75661 ? Diaphragmat ic H e r n i a 19 + 2 19 + 1/2 wk 1 1 4 C h a m b e r V i e w of Heart Not Obta ined 1 9 * 2 19 + 1/2 w k 1 1 Midl ine St ruc tures , Ce rebe l lum, a n d H e a d S h a p e A p p e a r Norma l 19 + 2 19 + 1/2 wk 1 1 744 88 N u c h a l E d e m a (6 mm) 1 9 * 2 19 + 1/2 wk 1 1 746 80 T h e Hear t is o n the Right S i d e of the C h e s t 19 + 2 19 + 1/2 wk 1 1 756.6 L a n d Ante r io r A s p e c t o f the Diaphragm is Not W e l l Identified 1 9 * 2 19 + 1/2 wk 1 1 746.7 ? Hypop las t i c L Heart 19 + 2 19 + 1/2 wk 1 1 742 48 Dangl ing C h o r o i d P lexus 42320 11 1 1 Ult rasound Cons i s t en t wi th M e n s t r a l Da t e s 42326 2 3 * 4 1 6 - 1 7 w k 2 1 761 2 Difficult to s e e due to o l igohydramnios 2 3 * 4 1 6 - 1 7 w k 2 1 764 9/771 Imp: S e v e r e I U G R , P o s s i b l e V i r a l Infection or N o n c h r o m o s o m a l Major Anoma ly 2 3 + 4 1 6 - 17 wk 2 1 764 9 F e m u r G r o w t h R a t e Dec l in ing 2 3 + 4 1 6 - 1 7 wk 2 1 742.23 C e r e b e l l a r A r e a Empty ? d e s t r o y e d o r d i s p l a c e d unable to s e e 2 3 + 4 1 6 - 1 7 w k 2 1 754 82 Tiny T h o r a x Full o f Hear t 2 3 + 4 1 6 - 1 7 w k 2 1 Difficult to s e e due to maternal abdomina l wal l 2 3 + 4 1 6 - 1 7 w k 1 764.9 Abnorma l Growth R a t e A l s o Dec l in ing 2 3 + 4 1 6 - 1 7 w k 2 1 756 08 R a t e of H e a d Growth i s V . Abnormal - n o w w a y « t h a n 1st%cent i le 2 3 * 4 1 6 - 1 7 w k 2 1 761.2 Oligohydramnios 42343 16 + 2 1 1 756 08 L e m o n S h a p e d Skul l 16 + 2 1 1 742 39 M i l d H y d r o c e p h a l u s 16 + 2 1 1 N o other Fe t a l A n o m a l i e s Identified T o d a y 16 + 2 1 1 741.01 B a n a n a Ce rebe l l um due to Arno ld Ch ia r i 16 + 2 1 1 741.01 S a c r a l M e n i n g o m y e l o c e l e S u s p e c t e d 42343 11 10 + 2 1 4 744.88 N u c h a l T r a n s l u c e n c y form Occ ipu t to L o w e r Trunk 42362 21 1 2 742.00 L a r g e Occ ip i t a l E n c e p h a l o c e l e 21 1 2 N o Other O b v i o u s A n o m a l i e s 21 1 2 756 1 Difficutt to A s s e s s the R e s t of the Sp ine 21 1 2 747.5 Single Umbi l i ca l Artery 42334 5 2 553 1 T w i n B - Ompha loce l e 5 2 Twins 5 2 Both Twins Norma l C a r d i a c Appendix II E G A D a t e s E G A U / S Ultrasound Findings 139 Amniobc Method Narrow D i a g n o s i s : Fluid of TA Code: T w i n A - Norma l Ana tomy Fetat S i z e C o r r e s p o n d s to D a t e s 17 + 4 17 + 4 17 + 4 17 + 4 17 + 4 17 + 4 17 + 4 17 + 4 17 + 4 17 + 4 17 + 4 17 + 4 17 + 4 17 + 4 17 + 4 17 + 4 17 + 4 17 + 4 17 + 4 17 + 4 17 + 4 759.89 756.17 764.9 754.03 761.2 778.0 789.3 750.7 753.00 753.16 744.88 Imp: R e n a l A g e n e s i s / D y s g e n e s i s , C a u d a l R e g r e s s i o n , V A T E R , o r C A M type III (bilateral) T h e S a c r u m a p p e a r s shor ter al though all of the oss i f i ca t ion cen te rs c a n be identified. T h e B o w e l i s E c h o g e n i c E c h o p o o r structure i s present in the pe lv i s , either a d is tended bladder or d is tended re t ros igmoid Imp: M C A m a y b e due to aneuplo idy Bo th Fee t are S e e n in a Club P o s i t i o n Hear t v i e n s are normal 2 V e s s e l C o r d L o w e r L imbs s h o w a femur at the 10%cent i l e Dol tcocepha l ic H e a d S h a p e M o d . Ol igohydramnios S m a l l amount of A s c i t e s A b d o m e n i s a b o v e 90th %cen t i l e S t o m a c h i s not c lear ly identified T h e r e a re no normal appear ing K i d n e y s A structure i s present o n the left s ide that m a y represent a dysp las t ic k idney or b o w e l N u c h a l F o l d M e a s u r e s 7.5 mm The diaphragmatic curve i s inver ted Lungs appear of i n c r e a s e d vo lume but normal echogen ic i ty Thorax S i z e i s a b o v e 90th %cent i le Other parts of Sp ine A p p e a r Normal 2 4 + 6 2 4 + 6 2 4 + 6 2 4 + 6 2 4 + 6 2 4 + 6 2 4 + 6 2 4 + 6 761.2 S e v e r e Ol igohydramnios 753.8 Fe t a l Bladder Not S e e n 753 38 Fe t a l K idney are V e r y Large 753.0 Fe t a l K i d n e y s are Highly E c h o g e n i c 753.11 Impress ion: Infantile P o l y c y s t i c Kidney D i s e a s e 762.6 Three V e s s e l C o r d N o t e d N o Other A n o m a l i e s S e e n 750.7 Fe t a l S t o m a c h Not S e e n 17 + 2 17 + 2 17 + 2 17 + 2 17 + 2 740.01 S u g g e s t i v e o f A c r a n i a 740.01 C r a n i u m i s A b s e n t 742.48 B r a i n Structure U n d e r d e v e l o p e d 756.14 C e r v i c a l S p i n e A p p e a r s La rge r ( A s s o c i a t e d wi th C r a n i a l Nondeve lopment ) 740.02 S u g g e s t i v e o f A n e n c e p h a l y S i z e = D a t e s by U / S 32 + 4 32 + 4 32 + 4 32 + 4 32 + 4 S u g g e s t C h r o m o s o m e A n a l y s i s N o Other A n o m a l i e s S e e n D o e s Not L o o k L i k e Duodena l A t r e s i a but Probably in Duodena l Length or High Jejunum Po lyhyd ramn ios Indicates High Fe t a l G l Trac t Obs t ruc t ion D i s t ended S t o m a c h and Addi t ional Fluid Fi l led L o o p s Fe t a l S i z e C o r r e s p o n d s with Mens t r a l D a t e s 1 8 + 1 / 2 1 8 + 1 / 2 1 8 + 1 / 2 1 8 + 1 / 2 753.16 753.0 S m a l l Bladder S m a l l Pe r i ca rd ia l Effusions M i c r o c y s t l c Dysp la s t i c K i d n e y s H y p e r e c h o g e n i c Kidney G r o w t h a n d Ana tomy A p p e a r Norma l G e n e t i c A m n i o c e n t e s i s 15 15 15 753.00 E c h o g e n i c K i d n e y s (Dysp las t i c ) 761.2 M i l d O l igohydramnios 753.88 D i s t ended Fe ta l B ladder 2 1 + 4 15 1 2 511.9 Bila tera l P leura l Effus ions 2 1 + 4 15 1 2 778.0 A s c i t e s 2 1 + 4 1 5 1 2 742 48 B a n a n a Ce rebe l l um 2 1 + 4 15 1 2 751 5 E c h o g e n i c B o w e l , G r a d e 1 2 1 + 4 15 1 2 753.01 E c h o g e n i c L Kidney 2 1 + 4 15 1 2 778.0 G r o s s Fe t a l Hydrops 21 + 4 15 1 2 754,9 I U G R 2 1 + 4 15 1 2 228 1 S e v e r e C y s t i c H y g r o m a 16 + 5 16 + 5 16 + 5 16 + 5 16 + 5 754.78 742.42 746.88 750.78 Abnormal ly Pos i t i oned Fee t Bi la tera l C h o r o i d P l e x u s C y s t s Ompha loce l e B r a d y c a r d i a S t o m a c h A g e n e s i s T w i n A - Ompha loce l e endix II Ul t rasound Findings E G A D a t e s 17 E G A U / S Amniotic Method Narrow D i a g n o s i s : Fluid of TA Coda: T w i n s 754.20 T w i n A - Thoraco lumbar S c o l i o s i s 746.08 T w i n A - R D e v i a t i o n o f the Hear t 759.89 T w i n A - P o s s i b l e B o d y W a l l C o m p l e x 779.9 T w i n B - Intrauterine D e m i s e 17 + 6 17 + 6 17 + 6 17 + 6 17 + 6 17 + 6 17 + 6 17 + 6 17 + 6 754.82 S m a l l Be l l S h a p e d C h e s t 749.29 Cleft Pa l a t e 749.29 Cleft Lip 756.44 Imp: A p p e a r s T o B e A C a s e of Thana tophor ic Dwar f i sm 742.21 ? A b s e n t C o r p u s C a l l o s u m 742.39 Ven t r i cu lomega ly 755.88 L imb Shor ten ing - Humerus , U lna , T i b i a , Femur < 5%cent i le (15 wk s ize) 756 49 M C A - Ske le ta l D y s p l a s i a N o Frac tu res , Normal ly Ca lc i f i ed B o n e s 756.08 C l o v e r i e a f S h a p e d Skull 740.02 A n e n c e p h a l y S i z e a n d Ana tomy A p p e a r Norma l 17 + 2 17 + 2 751 5 E c h o g e n i c B o w e l 742.48 Inhomogeneous C h o r o i d P l e x u s A p p e a r a n c e Fe t a l S i z e C o r r e s p o n d s W i t h D a t e s 15 15 741.01 M e n i n g o m y e l o c e l e 741.01 A m o l d - C h i a r i T y p e II Malformat ion 742.52 P o s s i b l e D ias t ema tomye l i a 741.01 Prominent La te ra l Vent r ic le 553 1 • O m p h a l o c e l e 228 i M o d . C y s t i c H y g r o m a , wi th e d e m a extending to the lower thorax 746.80 745.3 753.00 Dext roca rd ia P o s s i b l e S ing le Vent r i c le P o s s i b l e R e n a l A g e n e s i s 22 + 2 22 + 2 22 + 2 22 + 2 2 2 + 2 22 + 2 22 + 2 756.49 Imp: Skel Dysp c Polydact. ? Cardiac Anom. Mecon. Periton.. Chondroectoderm Dysp, Short Rio Polydact Synd, Asphyx Thoracic Dysp 755.88 All L o n g B o n e s A r e M o d . to S e v e r e l y S h o r t e n e d (well be low 5%cent i le) S h a p e & Dens i ty A p p e a r Norma l 754.82 T h e T h o r a x i s S m a l l (2-5%cent i le ) 755.09 Bo th H a n d s H a v e 6 Digi ts 755 60 F e e t a re normal in s ize , but digits a re not wel l s e e n C o u l d Not S e e the Interatrial S e p t u m or Uppe r Interventriculare Sep tum W e l l 751.5 Highly E c h o g e n i c B o w e l wi th smal l to modera te a s c i t e s present 15 15 15 756.71 759.42 N u c h a l E d e m a C y s t i c H y g r o m a Abdomina l W a l l Defec t Conjo ined T h o r a c o p a g u s (single heart) Twins 15 + 5 15 + 5 15 + 5 750.7 P o s s i b l e Di la ted S t o m a c h 789.9 F o c a l E c h o g e n i c A r e a s in the A b d o m e n 789 9 C y s t i c A r e a eith e c h o g e n i c wall in abdomen 19 + 4 19 + 4 19 + 4 19 + 4 755 51 755.53 P o s s i b l y P o l a n d S y n d r o m e S m a l l Ante r io r M y o m a Rudimentary L H a n d Hypop las t i c L F o r e a r m Intrauterine Fe t a l D e m i s e 17 17 1 4 - 1 5 1 4 - 1 5 1 4 - 1 5 764.9 779.9 Nucha l E d e m a I U G R Intrauterine Fe t a l D e m i s e 18 + 3 18 + 3 18 + 3 18 + 3 753.01 753.16 747.5 753.88 Absen t L K i d n e y R C y s t i c K i d n e y S ing le Umbi l ica l Ar te ry S m a l l Fe t a l B ladder Norma l G e s t a t i o n 17 + 2 17 + 2 17 + 2 742.48 P o s s i b l e Arno ld Ch ia r i Malformat ion 74198 P o s s i b l e S a c r a l D y s r a p h i s m 742 39 Di la ted La te ra l a n d 3rd Ven t r i c l e s C y s t i c H y g r o m a ' Appendix II E G A D a t e s Ultrasound Findings 141 E G A U / S Amniotic Method Narrow D i a g n o s i s : Fluid o(TA Code: 744.88 N u c h a l E d e m a Norma l G e s t a t i o n 2 1 + 2 2 1 + 2 2 1 + 2 2 1 + 2 742.26 749.21 749.21 747.5 Aloba r H o l o p r o s e n c e p h a l y Bilateral Cleft L ip Bi la tera l Cleft Pa l a t e Single Umbi l ica l Artery 1 Fe ta l S i z e C o r r e s p o n d s to Da t e s 2 744.88 S m a l l Bi la tera l N u c h a l E d e m a i Norma l G e s t a t i o n 1 8 + 1 1 8 + 1 2 3 + 5 2 3 + 5 2 3 + 5 2 3 + 5 228.1 M a s s i v e C y s t i c H y g r o m a 778.0 S e v e r e Fe t a l H y d r o p s 761.2 S e v e r e Ol igohydramnios 746.7 L C a r d i a c Vent r ic le H y p o p l a s i a 762.8 A r e a s of S e p e r a t e d C h o r i o n 753.8 Bladder Norma l 764 9 I U G R 753.01 L K i d n e y C a n n o t B e Pos i t ive ly Identified 751.5 G r a d e II E c h o g e n i c B o w e l 18 + 3 18 + 3 18 + 3 18 + 3 18 + 3 15 + 2 15 + 2 15 + 2 15 + 2 15 + 2 15 15 16 + 5 16 + 5 16 + 5 16 + 5 16 + 5 17 + 5 17 + 5 17 + 5 12 + 5 12 + 5 12 + 5 12 + 5 15 15 15 15 15 15 753.2 M i l d Bi la tera l Pe fv i ec t a s i s 746.88 Pe r i ca rd i a l Effus ions 511.9 P leura l Effus ions Femur Foot Ra t io Abnormal i ty 755.38 Hypoplas t i c Femur 228.1 C y s t i c H y g r o m a 742.42 S m a l l Bi la tera l C h o r o i d P lexus C y s t s M a r k e d S k i n E d e m a Pleura l Effus ions A s c i t e s P o s s i b l e 2 V e s s e l C o r d Hydrop ic Fe tu s 778.0 747.5 778.0 778.0 778.0 511.9 551.9 778.0 741.01 ' 741,01 754,73 749.21 749.21 753.16 761.2 753.38 H e a d A s c i t e s Throax A s c i t e s E c h o g e n i c B o w e l R P leura l Effusion G e n e r a l i z e d Hydrop ic Fe tus A b d o m e n A s c i t e s Arno ld -Chia r i T y p e II Malformat ion S m a l l C y s t i c M e n i n g o m y e l o c e l e Bi la tera l C lub Fee t S u s p e c t e d Bi la tera l Cleft Lip S u s p e c t e d Bi la tera l Cleft Pa la te Mul t i cys t i c E c h o g e n i c K i d n e y s S e v e r e Ol igohydramnios Bi la tera l R e n a l Enlargement S ing le L i v e Fe tu s S i z e Appropr ia te for Da t e s N u c h a l memb. s e e n w h i c h ex tends from the occiput to the lower thorac ic a r e a o v e r the d o r s u m of the fetus It C o n t a i n s Fluid & Ex tends at L e a s t 2 mm from the D o r s u m of the Fe ta l N e c k It R e p r e s e n t s a Mani fes ta t ion o f the Jugular Lymphat ic Obst ruc t ion S e q u e n c e S h a r e d B o w e l Abdomina l C y s t C lub Fee t Multiple A s c i t e s in Umbi l ica l C o r d S h a r e d L i v e r Con jo ined T w i n s (Omphalogus) 20 2 0 779 9 Fe t a l D e m i s e 778 5 Soft T i s s u e E d e m a 19 + 5 19 + 5 19 + 5 759.89 B r a c h i c - O t o - R e n a l S y n d r o m e 753.00 Fe t a l K i d n e y s c a n not be Identified 753.6 Fe t a l Bladder C o u l d Not B e Identified 2 2 2 2 753 00 P o s s i b l e R e n a l A p l a s i a 753.16 P o s s i b l e Mul t icys t ic Dysp la s t i c Kidney Appendix II E G A D a t e s Ultrasound Findings 142 E G A U / S Amniotic Method Narrow D i a g n o s i s : Fluid of TA Code: 761.2 S e v e r e Ol igohydramnios 754.03 Do l i chocepha ly 12 12 228.1 C y s t i c H y g r o m a 778 o Fe t a l Hydrops 779.9 Intrauterine Fe t a l D e m i s e 19 + 6 19 + 6 19 + 6 19 + 6 19 + 6 19 + 6 19 + 6 19 + 6 754.3 Bi la tera l C lub F e e t 750 7/753 S t o m a c h and Bladder W e r e Not S e e n 742.39 Vent r icu lomegaly (Latera l Ven t r i c l e s Only) 553.1 S m a l l Ompha loce l e 755 50 N o Definate P loydac ty ly al though 5th F inge r s L o o k C u r v e d N o S i g n of E n c e p h a l o c e l e or D y s r a p h i s m 753.16 Bo th K i d n e y s are Presen t & A r e Enlarged and E c h o g e n i c with M i c r o c y s t s a n d S o m e La rge r C y s t s 744 88 N u c h a l Th icken ing - 7 mm 18 + 18 + M o d e r a t e A s c i t e s Pe r i ca rd i a l Effusion M o d e r a t e C a r d i o m e g a l y N o structural c a r d i a c matfns a re present F e t a l SmaU B o w e l i s E c h o g e n i c D D x inc ludes a n e m i a (a- thalassemia) , infect ion or aneuploidy G e n e r a l i z e d Hydrops is P resen t with . . . Fe t a l S i z e A g r e e s wi th Da t e s Fe t a l S i z e C o r r e s p o n d s to Da t e s 1 5 + 1 / 2 1 5 + 1 / 2 1 5 + 1 / 2 Large C y s t i c H y g r o m a G e n e r a l i z e d Hydrops Abnorma l Heart Pos te r io r W a l l He te rogenous M a s s , (Myoma) Norma l G e s t a t i o n 2 2 2 2 753.69 Urethral Dila ta t ion 753.22 M e g a c y s t i s 753.20 Bi lateral Hydroneph ros i s 754.62 D e c r e a s e d Trunca l C i r cumfe rence 753.88 P o s s i b l e Divert iculum of Bladder 2 0 + 2 2 0 + 2 2 0 + 2 741.01 Pos t e r io r Lumbar M e n i n g o m y e l o c e l e 74t 01 Arno ld Ch l a r i Mal format ion 74101 Vent r icu lomegaly Norma l G e s t a t i o n Norma l G e s t a t i o n 17 + 6 17 + 6 17 + 6 17 + 6 17 + 6 M i l d La te ra l Ventr icular Di la t ion C y s t i c H y g r o m a G e n e r a l i z e d Fe t a l Hydrops Bi la tera l P leura l Effusions Abdomina l A s c i t e s 17 + 3 17 + 3 17 + 3 17 + 3 17 + 3 759.89 C a u d a l R e g r e s s i o n S y n d r o m e Var ian t 755.38 T runca t ed L o w e r L i m b s 755 48 T runca t ed L Uppe r Limb 753.00 Abnorma l R e n a l S t ruc tures 756.71 S m a l l G a s t r o s c h i s i s 755.51 H a n d Clubbing 756.18 S p i n e E n d s Blindly 759 89 S u g g e s t i v e of L i m b - B o d y - W a l l C o m p l e x 16 + 2 16 + 2 15 15 G e n e t i c A m n i o c e n t e s i s Ul t rasound S i z e Compat ib le with P r e v i o u s Ul t rasound 17 + 4 17 + 4 17 + 4 17 + 4 17 + 4 Short Femur Length C y s t i c H y g r o m a S k i n E d e m a Pleura l Effusion Pers i s ten t F l ex ion of L e g s 17 + 5 17 + 5 17 + 5 17 + 5 17 + 5 17 + 5 742 48 Multiple Bi la tera l C h o r o i d P lexus C y s t s (largest 11mm) 742 08 La rge E n c e p h a l o c e l e at the ver tex with l e m o n shaped" frontal bones 750.28 W i d e mouth wi th la teral ex tens ion of the co rne r s o f the mouth Extremit ies not wel l s e e n , 4 digits s e e n o n R hand, L hand not wel l s e e n 743.67 Sha l l ow orbits C e r v i c a l Structure S e e n , ce rv ix long a n d c l o s e d Appendix II Ultrasound Findings Code E G A E G A Amniotic Method Narrow D i a g n o s i s : No: D a t e s U / S Fluid of TA Code; 17 + 5 1 1 N o Po lydac ty ly 17 + 5 1 1 Fe ta l S i z e i s cons is ten t with menst ra l da te s 17 + 5 1 1 Normal Amnio t ic Fluid Vo lume 17 + 5 1 1 755.07 C r a n i a l A n o m a l i e s 17 + 5 1 1 N o renal anomal i e s s e e n 17 + 5 1 1 749.29 ? Cleft lip +/- palate 17 + 5 1 1 742.23 A b s e n c e o f the inferior ve rmus o f the cerebe l lum with large c i s t e m a m a g n a 17 + 5 1 1 748.10 A b s e n c e o f n a s a l s t ructures 17 + 5 1 1 Imp: Cran io fac i a l A n o m ' s , cou ld be part o f fac io-aur iculc-ver tebra l spec t 'm, incr . risk of aneuplo idy 17 + 5 1 1 756.02 M a r k e d Hyper te lo r i sm 17 + 5 1 1 F a c i a l A n o m a l i e s 17 + 5 1 1 M a l e Gen i t a l i a 17 + 5 1 1 N o ompha loce l e s e e n 17 + 5 1 1 755.61 P o s s i b l e Rocke rbo t tom F e e t 44413 15 + 1 1 1 A m n i o c e n t e s i s S u c c e s s f u l 15 + 1 1 1 S i z e Appropr ia te for Dat ing 44427 1 0 + 1 1 1 Fe ta l S i z e C o r r e s p o n d s to Da te s 44452 18 1 2 Congen i t a l Heart Abnormal i t ies 18 1 2 745.63 A - V S e p t a l Defect wi th a V S D & A S D Componen t 44474 15 + 6 1 2 A m n i o c e n t e s i s , S ing le T a p 44470 18 + 3 16 + 1 3 1 753.88 Smal l B ladder 18 + 3 16 + 1 3 1 753.00 D y s p l a s t i c R e n a l T i s s u e 18 + 3 16 + 1 3 1 753.01 R Kidney Not Identified 18 + 3 16 + 1 3 1 753,20 S e v e r e L Hydronephros i s 18 + 3 16 + 1 3 1 761.2 Oligohydramnios , M o d e r a t e 18 + 3 16 + 1 3 1 746,88 S m a l l Pe r i ca rd i a l Effusion 18 + 3 1 6 + 1 3 1 228.1 C y s t i c H y g r o m a 18 + 3 16 + 1 3 1 778.5 Diffuse S k i n E d e m a 44486 19 + 5 1 1 742,23 Abnorma l Ce rebe l l um 19 + 5 1 1 742.28 A b s e n t V e r m i s 19 + 5 1 1 742.20 C e r e b r a l H e m i s p h e r e s F u s e d In Midl ine 19 + 5 1 1 P o s t e r i o r F o s s a C o u l d Not B e S e e n 19 + 5 1 1 742.39 Vent r icu lomega ly 19 + 5 1 1 4th Vent r i c le C o u l d Not B e S e e n 444SS 20 18 + 4 1 1 764,9 Fe ta l G r o w t h <5%centi le , I U G R 20 18 + 4 1 1 228.1 C y s t i c H y g r o m a 20 18 + 4 1 1 778,5 Diffuse S k i n E d e m a 20 18 + 4 1 1 778.5 A s c i t e s 20 18 + 4 1 1 511.9 Bila tera l P leura l Effusions 2 0 18 + 4 1 1 746.7 L Heart H y p o p l a s i a 44489 15 1 1 Uneventful S ingle T a p Amnio 44495 18 + 3 1 1 741.01 Irvfrac renal/Cranial Findings Consist, c Chiari II Mali. Concave Frontal Bones. Cerebelum Deformity & Obbterated Cistema Magna 18 + 3 1 1 L e g . M o v e m e n t i s P re sen t a n d the Fee t A r e Not C lubbed 18 + 3 1 1 742.39 N o Vent r icu la r Di la t ion T o d a y 18 + 3 1 1 Fe ta l S i z e Cons i s t en t with M e n s t r a l D a t e s 18 + 3 1 1 741.01 Spina l dys raph i sm from L 2 to S 2 L e v e l s (approx), defect appea r s open poster ior ly no cys t i c structure s e e n 44499 21 17 + 1 1 1 742.02 A n e n c e p h a l y 21 17 + 1 1 1 B y F e m u r M e a s u r e m e n t , G e s t A g e i s 17 +/-1 wk 44606 24 + 6 1 2 749,1 N o Cleft L ip S e e n 2 4 + 6 1 2 Trunk a n d Femur G r o w t h are appropriate for menst ra l da te s 24 + 6 1 2 742.1 H e a d is approx. 2 2 w k s s ize 2 4 + 6 1 2 742.26 Aloba r Ho lop rosencepha ly - s o m e d iv i s ion of choro id p lexus poster ior ly , Ba l l T y p e 2 4 + 6 1 2 756.08 F a c i a l Anomaly , Hypo te lo r i sm 24 + 6 1 2 743,63 Prominent Eye l id s 24 + 6 1 2 744.91 Hypop las t i c M i d f a c e 24 + 6 1 2 741,01 Abnormal P o s t e r i o r F o s s a - ' b a n a n a cerebe l lum" sugges t ive of A m o l d - C h i a r i Mal fo rmat ion 24 + 6 1 2 741.01 P o s s i b l e S a c r a l D y s r a p h i s m al though soft t i s s u e s not wel l s e e n due to b r e e c h pos i t ion 2 4 + 6 1 2 758.10 Imp: A loba r Ho lop rosencepha ly , F a c i a l A n o m a l i e s & P o s s i b l e S a c r a l M e n i n g o c e l e , M i c r o c e p h a l y 2 4 + 6 1 2 758.10 Imp: High R i s k of C h r o m o s o m a l Anoma ly (trisomy 13) 24 + 6 1 2 748.18 Single Nost r i l 44622 1 1 + 3 1 1 744,88 Fe ta l N u c h a l T r a n s l u c e n c y Thicken ing 44635 13 12 t 4 764,9 I U G R 13 12 1 4 778.5 Diffuse S u b c u t a n e o u s E d e m a 44638 2 0 + 3 1 2 756.61 Left S i d e d Diaphragmat ic H e m i a , S t o m a c h & B o w e l in Thorax , Hear t D i s p l a c e d into Hemi thorax 44642 Appendix II E G A D a t e s 2 9 • 1 2 9 • 1 2 9 * 1 2 9 * 1 E G A U / S Ultrasound Findings 144 Amniotic Method Narrow D i a g n o s i s : Fhjjd of TA Code: 744.ee L a r g e Soft T i s s u e M a s s Aga ins t N e c k 779 9 Intrauterine D e m i s e 761.2 M o d e r a t e Ol igohydramnios 778 o Fe t a l H y d r o p s 7780 A s c i t e s 746 88 Pe r i ca rd i a l Effusions 5119 Bi la tera l P leura l Effusions 1 9 * 2 19 + 2 19 * 2 19 + 2 19 + 2 19 + 2 19 + 2 19 + 2 19 + 2 19 + 2 19 + 2 746 88 750.7 754.20 754.73 K i d n e y s Difficult to S e e N u c h a l E d e m a S e v e r e Ol igohydramnios B ladder Not S e e n S u g g e s t i v e of V A T E R A s s o c i a t i o n S m a l l P e r c a r d i a l Effusion S m a l l S t o m a c h P o s s i b l e Hemive r t eb rae M i l d Lumbar S c o l i o s i s L C lubbed Foo t S u g g e s t i v e of V A C T E R Y L 18 + 4 18 + 4 18 + 4 18 + 4 19 + 5 19 + 5 19 + 5 19 + 5 19 + 3 19 + 3 13 + 2 13 + 2 13 + 2 17 + 4 17 + 4 17 + 4 21 21 21 21 21 21 21 21 21 21 16 16 1 1 + 3 1 1 + 3 1 1 + 3 8 + 5 8 + 5 8 + 5 8 + 5 8 + 5 8 + 5 8 + 5 8 + 5 8 + 5 8 + 5 8 + 5 8 + 5 8 + 5 8 + 5 N o Other Fe t a l A n o m a l i e s S e e n T o d a y 777 6 Bright e c h o g e n i c foc i s e e n outs ide s t o m a c h & s o m e smal l b o w e l loops sugges t m e c o n . peri tonit is 756,71 And wall defect seen to nghtside of umbikcal cord inserfn, with bowel loops in the amn fluid consist with gastroschisis Fe ta l S i z e is C o n s i s t e n t wi th M e n s t r a l Da t e s 742 42 Bi la tera l C h o r o i d P lexus C y s t s 746 88 L Vent r i c le Abnormal i ty 746,6 Mi t ra l V a l v e Abnormal i ty 753 o R e n a l Defec t 756.08 L e m o n S i g n 741,00 Ven t r i cu lomega ly 74100 O p e n S p i n e F r o m T 9 to S a c r u m 742.48 B a n a n a S i g n 764.9 M i l d I U G R , H e a d i s smaller than e x p e c t e d ( 1 1 + 3 wks ) 742.26 A loba r H o l o p r o s e n c e p h a l y 228 1 L a r g e C y s t i c H y g r o m a 742.39 Isolated Vent r icu lomegaly 742.48 Dangl ing C h o r o i d P l e x u s 755.51 C l e n c h e d H a n d s 74 2 4 2 Multiple C h o r o i d P l e x u s C y s t s 764 9 I U G R , <10%cent i le 762.8 S u g g e s t i v e o f A m n i o n Rupture S e q u e n c e 756 17 S a c r a l Sp ine Not S e e n 744.ee N u c h a l E d e m a 553 1 Abdomina l W a d Defec t Conta in ing A s c i t e s , L ive r , S t o m a c h , Gal lb ladder and B o w e l 553 i Smal l Ompha loce l e 754 20 L u m b a r S c o l i o s i s 764 9 I U G R 747.5 S ingle Umbi l ica l Artery 754.73 Club F e e t 762.60 Short UmbiBcal C o r d 759 89 S u g g e s t i v e Limb B o d y W a l l Defec t 756 78 S u g g e s t i v e of C l o a c a l Bladder Ext rophy 754 B2 T h o r a x not w e l l s e e n 759 89 S u g g e s t i v e B o d y Stalk Anoma ly 740.01/02 Fe t a l Carvar ium i s Absen t (Anencepha ly /Acran ia ) 756 51 P o s s i b l e Diaphragmat ic H e m i a or other A b n . Structure in the L C h e s t 17 + 4 2 511.9 Pleura l Effus ions 17 + 4 1 2 747.5 2 V e s s e l C o r d 17 + 4 1 2 778.0 A s c i t e s 17 + 4 1 2 746.88 R S i d e d D o m i n a n c e o f Hear t 17 + 4 i 2 778.0 Fe ta l H y d r o p s 17 + 4 ' 2 228.1 C y s t i c H y g r o m a 2 5 + 4 2 0 2 2 4 2 753.0 Difficult to v i s u a l i z e K i d n e y s 2 5 + 4 2 0 2 2 4 2 N o Other O b v i o u s Deformat ion 2 5 + 4 2 0 2 2 4 2 755,68 Pos i t i ona l Abnormal i ty o f Left L e g 2 5 + 4 2 0 2 2 4 2 753.01 ? S m a l l Left K idney S e e n 2 5 + 4 2 0 2 2 4 2 761.2 S e v e r e Ol igohydramnios prior to amnio infusion 2 5 + 4 2 0 2 2 4 2 764.9 A s y m m e t r i c I U G R 2 5 + 4 2 0 2 2 4 2 764,9 All Pa rame te r s « 10%centt ,e for G e s t . A g e 2 5 + 4 20 2 2 4 2 764,9 Fe ta l h e a d & femur measu re at the m e a n for 2 2 w k s whi le the A b d . Appendix II Ult rasound Findings 145 Code E G A E G A Amniotic Method Narrow D i a g n o s i s : No: D a t e s U / S Fluid ol TA Code: 2 5 + 4 2 0 - 2 2 4 2 747.5 2 V e s s e l C o r d 44859 14 + 5 1 2 A m n i o c e n t e s i s for G e n e t i c Conf i rmat ion 14 + 5 1 2 740.02 A n e n c e p h a l y 44S61 17 + 2 1 2 742.39 Bila tera l M o d e r a t e Vent r icu lomega ly 17 + 2 1 2 Major C a r d i a c A n o m a l y 17 + 2 1 2 745.4 Interventricular S e p t u m Not S e e n 17 + 2 1 2 228.1 C y s t i c H y g r o m a 17 + 2 1 2 778.0 Fe ta l H y d r o p s 17 + 2 1 2 746.88 Per i ca rd i a l Effusion 17 + 2 1 2 747.5 2 V e s s e l C o r d 44670 19 17-18+1 wk 1 2 758.69 Imp: Le tha l Anoma ly (Probably Turners Synd . ) 19 17-18+1 wk 1 2 778 0 Fe ta l H y d r o p s 19 17-18+1 w k 1 2 778.5 Major S k i n E d e m a 19 17-18+1 w k 1 2 746 88 L Vent r ic le of Fe t a l Heart A p p e a r s Slightly Smal le r 19 17-18+1 w k 1 2 511 9 Pleura l Effusions 19 17-18+1 wk 1 2 228.1 C y s t i c H y g r o m a 44SB7 18 + 6 2 1 749.29 P o s s i b l e Cleft Pa l a t e 18 + 6 2 1 754.73 Bila tera l C lub F e e t 18 + 6 2 1 755.68 Abnormal L e g P o s i t i o n 18 + 6 2 1 756.61 P o s s i b l e Diaphragm Defec t 18 + 6 2 1 756.08 H e a d Not W e l l S e e n 18 + 6 2 1 753.0 K i d n e y s Not W e l l S e e n 18 + 6 2 1 745.49 P o s s i b l e V S D 18 + 6 2 1 745.59 P o s s i b l e A S D 18 + 6 2 1 746.6 D y s p l a s t i c Mit ra l V a l v e 18 + 6 2 1 747 5 Single Umbil ica l Artery 18 + 6 2 1 749.29 P o s s i b l e Cleft Lip 18 + 6 2 1 Fe ta l G r o w t h d o e s not co r r e spond to da tes 18 + 6 2 1 761.2 M i l d Ol igohydramnios 44893 2 0 + 3 18 + 3 3 2 764.9 A s y m m e t r i c a l I U G R 2 0 + 3 18 + 3 3 2 N o Fe ta l A n o m a l i e s S e e n 2 0 + 3 18 + 3 3 2 764.9 M o d e r a t e I U G R 45003 10 1 1 Fe ta l S i z e C o r r e s p o n d s wi th Da t e s 45011 2 4 + 6 1 1 742.39 Bila tera l Vent r icu lomega ly 2 4 + 6 1 1 756 79 Abdomina l W a l l Defec t wi th E v i s c e r a t e d Heart & T h o r a c i c C o m p o n e n t s 2 4 + 6 1 1 754.20 Ext reme S c o l i o s i s 2 4 + 6 1 1 759 89 S u g g e s t i v e o f Limb B o d y W a l l Defec t 2 4 + 6 1 1 742.23 A b s e n t Ce rebe l l um 2 4 + 6 1 1 742 39 Enla rged 3rd Vent r ic le 45028 12 + 6 1 1 + 4 1 1 778.0 Hydrops 12 + 6 1 1 + 4 1 1 228.1 E x t e n s i v e C y s t i c H y g r o m a Invorving H e a d , N e c k , & T h r o a x 12 + 6 1 1 + 4 1 1 S u g g e s t i v e of Aneuplo idy 12 + 6 1 1 + 4 1 1 E G A Not Cons i s t en t W i t h Da t e s 45035 17 + 2 1 740 02 Carvar ium i s Absen t 17 + 2 1 2 740.1 C r a n i o r a c h i s c h i s i s 17 + 2 1 740.02 A n e n c e p h a l y 45054 15 + 6 1 1 Feta l S i z e C o r r e s p o n d s W i t h D a t e s 45059 18 + 5 18 + 1 wk 4 1 761 2 S e v e r e Ol igohydramnios 18 + 5 18 + 1 wk 4 1 754 9 Feta l S i z e at 10%cent i l e 18 + 5 18 + 1 wk 4 1 754.73 Bila tera l Club F e e t 18 + 5 18 + 1 wk 4 1 761.1 Ongoing Rupture of M e m b r a n e s 18 + 5 1 8 + 1 wk 4 1 778.5 E d e m a of W a l i o f Throax 45060 15 + 3 1 1 741.01 N T D , L o w e r T h o r a c i c 15 + 3 1 1 756 18 S u g g e s t i v e Hemiver tebrae 15 + 3 1 1 741.01 Chia r i II Malformat ion 15 + 3 1 1 756.12 K y p h o s c o l i o s i s 45075 13 + 2 1 1 744.88 Nucha l T r a n s l u c e n c y (5-6mm) 45084 17 + 6 1 1 740.0 Fe ta l C ran ium i s Absen t but B r a i n i s P re sen t 17 + 6 1 1 750.7 S t o m a c h Not S e e n 45210 17 + 3 3 2 751.5 Inc reased E c h o g e n i c B o w e l 17 + 3 3 2 753.01 L K i d n e y Not W e l l S e e n 17 + 3 3 2 745.63 A V S e p t u m Defec t 17 + 3 3 2 756.08 H e a d M e a s u r e m e n t s A r e Smal le r T h a n E x p e c t e d (15 + 2 w k s ) 17 + 3 3 2 751 5 S u g g e s t i v e B o w e l Ca lc i f i ca t ions Appendix II Ultrasound Findings 146 Code E G A E G A NO; D a t e s U / S l7T3 17 + 3 Amniotic Method Narrow D i a g n o s i s : Fluid o(TA Code: 761.2 M o d e r a t e Ol igohydramnios 753.0 R Kidney E c h o g e n i c 17 + 5 17 + 5 17 + 5 742.39 761.2 754.73 M i l d Vent r icu lomega ly S e v e r e Ol igohydramnios Bi la tera l Club F e e t 17 + 2 17 + 2 17 + 2 17 + 2 17 + 2 17 + 2 Single L i v e Fe tu s A n asymmet r ic encepha loce l e i s no ted Difficult to a s s e s s fetal ana tomy due to d e c r e a s e d A F V A fluid filled structure is identified poster ior to the heart - m a y be the t r achea sugges t ing a pos s ib l e T E F S p i n e a n d F a c e cou ld not be adequate ly a s s e s s e d S e v e r e Ol igohydramnios S u c c e s s f u l T r a n s c e r v i c a l C V S Fe ta l S i z e C o r r e s p o n d s with M e n s t r a l D a t e s 18 + 3 18 + 3 759.89 751.58 Abdomina l Ca lc i f i ca t ions Abdomina l M a s s S e e n in L o w e r A b d o m e n S u g g e s t i v e of C . F . S u g g e s t i v e of B o w e l L o o p 1 5 + 4 1 5 + 4 15+ 4 15+ 4 15+ 4 1 5 + 4 1 5 + 4 1 5 + 4 1 5 + 4 1 5 + 4 1 5 + 4 1 5 + 4 742.48 C y s t i c Structure A r i s i n g F rom Bra ins tem and L o c a t e d in P o s t e r i o r Midl ine 742.48 A b n B r a i n Deve lopment 742 48 N o Midl ine St ructures S e e n 742.48 N o B r a i n T i s s u e A b o v e Bra ins tem/Cerebe l lum 753.8 Fe t a l B ladder Not S e e n 756.08 L a r g e F o r e h e a d 743.67 F la t tened Orbits 748.18 F la t tened N o s e 746.80 Dex t roca rd i a 747.5 2 V e s s e l Umbi l ica l C o r d 742.32 P o s s i b l y Hydranencepha ly 742.26 P o s s i b l y Ho lop rosencepha ly 34 34 34 34 3 1 + 5 3 1 + 5 3 1 + 5 3 1 + 5 3 1 + 5 3 1 + 5 3 1 + 5 3 1 + 5 3 1 + 5 Outflow Trac t s appear Normal 761.3 Po lyhydramnios 750.7 S m a l l S t o m a c h V i s u a l i z e d 764 9 I U G R 755.51 C l e n c h e d R H a n d 755.51 C l u b b e d L H a n d 757.7 A n n e x a l M a s s Compa t ib l e wi th Derma l C y s t Bo th Ven t r i c l e s a re Norma l 745.68 Par t ia l A V C a n a l Defec t 750.38 Imp: Tenta t ive D i a g n o s i s o f E s o p h a g e a l A t r e s i a o r T r a c h e o e s p h a g e a l fistula 745.49 Ventr icular Sep ta l Defec t Appendix III Autopsy Findings 147 Method of TA Amniotic EGA at Fluid Termination Narrow D i a g n o s i s : Code: 228.1 Imp: U / S de tec ted C y s t i c H y g r o m a N o Deve lopmen ta l Abnormal i t ies in Intact Par t s 756.08 U n o s s i f i e d C r a n i a l Vaul t 747.21 P reduc ta l Aor t ic H y p o p l a s i a 755.51 Abnorma l H a n d P o s i t i o n 758.20 Imp: T r i s o m y 18 S y n d r o m e 755.50 Bi la tera l 5th Finger Cl inodac ty ly 757.2 Bi la tera l S i m i a n C r e a s e 758 00 Imp: Down ' s S y n d r o m e 754 o Fronta l Pa r i e t a l & O c c i p i t a l S k i n and Skull Defect 742 28 A b s e n c e of Supe r io r Sagi t ta l S i n u s 742.48 Neurona l Migra t ion Disorder , Diffuse - C e r e b r a l H e m i s p h e r e s Imp: Mult i factorial N T D & Congen i t a l C a r d i a c Abnormal i t ies 744.11 Bi la tera l P reaur icu la r T a g s 741.90 C e r v i c a l S p i n a l R a c h i s c h i s i s 745.2 Te t ra logy of Fallot 756.15 T h o r a c i c Hemive r t eb rae 742.58 A b s e n c e o f D u r a 772.2 745.50 ? 746.88 ? 778.0 511.9 511.9 753.38 762.28 778.0 758.00 746.88 746.88 759.24 751.01 779.89 746.88 755.50 748.58 750.18 746.4 744.24 748.51 S u b a r a c h n o i d a l Hemor rhage Hear t S h o w i n g Fenes t r a t ed F o r a m e n O v a l e S m a l l Pe r i ca rd i a l Effusion M a r k e d A s c i t e s M a r k e d R Pleura l Effusion M o d e r a t e L P leura l Effusion M a r k e d Minera l i za t ion of K i d n e y M a r k e d Minera l i za t ion of P l a c e n t a M a r k e d H y d r o p s Imp: D o w n ' s S y n d r o m e - 47 , X Y , + 21 Blunting of L La te ra l Vent r ic le Abundant V a l v e Leaf le t s S t r e s s Involution o f T h y m u s M e c k e l ' s Diver t iculum M i l d M a c e r a t i o n M i l d A s y m m e t r y of Ven t r i c l e s Bi la tera l 5th F inger Cl inodac ty ly Hyperp las t i c A lveo l a r R i d g e s L a r g e Protruding T o n g u e A s y m m e t r i c Aor t ic V a l v e L o w Se t E a r s S e v e r e Pu lmonary H y p o p l a s i a 9 * 1/2 9 * 1/2 9*1/2 9 * 1/2 9* 1/2 9* 1/2 S c a n t Ske le ta l and Fe ta l O r g a n s Identified 755 50 R hand 5th Finger Cl inodac ty ly 758 74 Imp: 4 6 , X X , - 1 5 , t (15q21q) = R o b e r t s o n i a n T r a n s l o c a t i o n T r i s o m y 2 1 778.5 E d e m a D o r s a of H a n d s a n d Fee t 758.60 Imp: Turner 's S y n d r o m e - 4 5 , X 758 00 Imp: 4 7 , X Y , + 2 1 / 4 8 , X Y , + 2 1 , + marker (mosac i sm) 755.50 B i la te ra l 5 th F inger Cl inodac ty ly N o other developmenta l anomal i e s in parts ava i lab le for examina t ion 742.1 M i c r o c e p h a l y 762.2 P l a c e n t a - U r e a p l a s m a Urea ly t i cum 755.50 Bi la tera l 5th F inger Cl inodac ty ly 743.1 M i c r o p h t h a l m i a 756.61 Diaphragmat ic Hern i a , Left, La rge , B o c h d a l e k T y p e 757 90 S c a l p Defec t 7 4 9 21 Bi la tera l Cleft L ip 758 10 Imp: T r i s o m y 13 S y n d r o m e 749.21 Bi la tera l Cleft Pa l a t e 758 58 Imp: 4 6 , X X , - 2 1 , + i (21q) N o Deve lopmen ta l A n o m a l i e s in Intact Par t s 750.18 Protruding T o n g u e 742' M i c r o c e p h a l y IUD - 3 + 1/2 w e e k s retention 747 38 Pu lmonary Trunk A p p e a r s Hypop las t i c 749.06 Mid l ine Cleft in the Soft Pa l a t e 758.09 Imp: M o s a i c 46 , X Y / 47 , X Y , + 21 S c a n t Internal O r g a n s are F o u n d Imp: A lpha T h a l a s s e m i a , Hb Bart ' s Hydrops Fe ta l i s Appendix III Autopsy Findings 148 Code Method Amniotic EGA at No ofTA Fluid Termination Narrow D i a g n o s i s : Code. 10* 6 10 + 6 12 + 5 12 + 5 12 + 5 18 + 2 18 + 2 11 + 5 11 + 5 N o Deve lopmenta l A n o m a l i e s in Par t s Ava i l ab le N o Other Deve lopmen ta l A n o m a l i e s 758 58 Imp: M o s a i c R i n g 2 2 S y n d r o m e - 4 6 , X Y / 4 6 , X Y , - 22 , + r(22) 755.50 Bi la tera l 5th F inger C l inodac ty ly S c a n t O r g a n s a re Identifies 758.58 Imp: U n b a l a n c e d Trans loca t ion N o Deve lopmen ta l A n o m a l i e s 746.7 Aor t i c V a l v e A t r e s i a 746.7 Tubular H y p o p l a s i a o f Aor t i c A r c h 746.1 D y s p l a s t i c T r i cusp id V a l v e 746.7 Hypop las t i c L Hear t 746.7 Hypop las t i c Mit ra l V a l v e 758.10 Imp: Tr i somy 13 S y n d r o m e 762.68 Umbil ica l C o r d C y s t 746 88 Hyper t rophic R Vent r ic le 755 oo Po lydac ty ly of Bo th H a n d s N o Deve lopmen ta l A n o m a l i e s in Intact Par t s 758 oo Imp: D o w n ' s S y n d r o m e - 4 7 , X X , + 21 N o Deve lopmen ta l A n o m a l i e s in the Intact Par t s 758 58 Imp: Triploidy 746.88 Po lyva lvu la r D y s p l a s i a 755.51 Abnormal H a n d C lench ing 2nd and 5th over lapping 3rd a n d 4th f ingers, Bial teral 758.20 Imp: Tr i somy 18 S y n d r o m e 758.00 Imp: Down ' s S y n d r o m e Embyro is not identified 762 28 Abnorma l Vil lus Morpho logy in P l a c e n t a 754 73 L C lub Foo t 758.51 Pu lmonary H y p o p l a s i a 755.50 Bi la tera l C l inodac ty ly due to H y p o p l a s i a o f M i d - P h a l a n g e s 757.2 Bi la tera l S i m i a n C r e a s e 744.88 P o s t e r i o r N e c k 8 758.00 Imp: D o w n ' s S y n d r o m e - 47 , X X , + 21 771.1 C y t o m e g a l o v i r u s Infection, Vi ra l Inclusions in P l a c e n t a & Fe ta l T i s s u e s including Bra in 742.39 M i l d H y d r o c e p h a l u s 771.1 Imp: Cy tomega lov i ru s Infection 755.02 Po lydac ty ly , P o s t a x i a l , Bo th Fee t 755 00 Po lydac ty ly , P o s t a x i a l , Bo th H a n d s 758 58 Imp: U n b a l a n c e d R e c i p r o c a l T r a n s l o c a t i o n 747 19 Hypop las t i c Aor t i c A r c h 16 + 1/2 16 + 1/2 756.30 12 R i b s Right a n d 11 R i b s Left S i d e 751 78 P a n c r e a t i c D y s p l a s i a 751.62 Congen i t a l Hepa t i c F ib ros i s wi th Duc ta l Pla te Malformat ion 757 2 Bi la tera l S i m i a n C r e a s e s 753.11 Bi la tera l C y s t i c K i d n e y s 748 18 Prominent N o s e 758 09 Imp: D o w n ' s S y n d r o m e (mosa ic ) 755.50 Bi la tera l H y p o p l a s i a o f M i d Pha lanx , Fifth F inger N o Deve lopmen ta l Abnormal i t ies A r e F o u n d In T h e Intact Par t s Imp: N o Deve lopmen ta l A n o m a l i e s , F H x Tuberous S c l e r o s i s 758.58 Tr iploidy C o n c e p t u s , 6 9 , X X X (prenatal d i agnos i s & confirmatory t i s sue cultures) 758 58 Imp: Triploidy S c a n t Fe t a l Fragments N o n e o f the Internal O r g a n s w e r e Submit ted for Examina t ion 751 01 M e c k e l ' s Diver t iculum N o Other Deve lopmen ta l A n o m a l i e s 758.61 Imp: M o s a i c i s m 45 , X / 46 , X Y 744.88 ? P o s t e r i o r N u c h a l E d e m a 755.50 Bi la tera l 5th Finger Cl inodac ty ly 758.00 Imp: Down ' s S y n d r o m e 12+ 1/2 wks 12+ 1/2 wks 12 + 1/2 wks 758 oo Examina t ion Conf i rms Prena ta l D i a g n o s i s of T r i somy 21 758.00 Imp: Down ' s S y n d r o m e - 4 7 , X Y , + 21 758.00 Cy togene t i ca l ly Identified a s T r i somy 21 Appendix III Autopsy Findings 149 Code Method Amniotic EGA at Narrow D i a g n o s i s : No: of TA Fluid Termination Code: 31134 2 1 18 744.88 ? M i l d P o s t e r i o r N u c h a l E d e m a 2 1 18 748.58 Incomplete Loba t ion of Lung 2 1 18 748.51 Mild Pulmonary H y p o p l a s i a 2 1 18 755.50 Bila tera l 5th Finger Cl inodac ty ly 2 1 18 778 5 Diffuse S u b c u t a n e o u s E d e m a , M i l d 2 1 18 756 08 Fla t tened Occ ipu t 2 1 18 754.00 Fla t tened N a s a l Br idge 2 1 18 748.18 B r o a d N o s e 2 1 18 750.18 Mildly Protuberant T o n g u e 2 1 18 758.00 Imp: D o w n ' s S y n d r o m e 31464 2 1 19 * 1/2 758.70 Imp: Kl ine fe l t e r^ S y n d r o m e - 4 7 , X X Y 2 1 19*1/2 N o Othe r Deve lopmen ta l A n o m a l i e s 2 1 19 * 1/2 755.50 Bila tera l 5th F inger Cl inodac ty ly 31574 1 1 20 N o Abnormal i t ies are Identified in Intact Pa r t s 1 1 20 758.29 Imp: M o s a i c 46 , X Y / 47 , X Y , + i(18p) 31703 2 1 16 Imp: Mult i factorial N T D 2 1 16 741 03 T h o r a c o l u m b o s a c r a l M e n i n g o m y e l o c e l e 2 1 16 756.18 Sagg i t a l L V e r t e b r a e 2 1 16 756.18 Butterfly V e r t e b r a e at Thoraco lumbar Junc t ion 2 1 16 741.03 H y d r o c e p h a l u s 32236 1 1 15 • 1/2 758.58 Imp: M o s a i c 4 7 , X Y , + 9 / 4 6 , X Y 1 1 15+1/2 N o Deve lopmen ta l A n o m a l i e s in Pa r t s A v a i l a b l e 32491 2 1 22 759.18 S t e a t o s i s , M o d e r a t e , Fe t a l Z o n e , A d r e n a l G l a n d 2 1 22 778.0 Imp: G e n e r a l i z e Fe t a l H y d r o p s - U n k n o w n C a u s e 2 1 22 778.0 H y d r o p s Fe ta l i s 2 1 22 748.51 Pulmonary H y p o p l a s i a 2 1 22 511.© Pleura l Effus ions 2 1 22 742.48 7 S u b e p e n d y m a l P la te Hemor rhage , smal l , right, Bra in 2 1 22 759 18 M i c r o c y s t i c C h a n g e , Cor t ex , A d r e n a l G l a n d 33222 1 1 12 + 1/2 S c a n t Fe t a l T i s s u e i s Identified 1 1 12 + 1/2 758.58 Imp: 4 6 X X , - 1 3 , +der(13), t (12;13) 33256 1 1 13 758.58 C h o r i o n Conf ined m o s a c i s m for chr . 2 + 21 double t r i somy. 1 1 13 747.19 Hypop las t i c Aor t ic A r c h 1 1 13 758.09 Imp: 4 7 , X X , + 2 1 / 4 8 , X X , + 2 , + 21 conf ined to p lacenta 33297 2 1 16 * 2 742.48 Neurona l Migra t ion Defect , B r a i n 2 1 16 + 2 751.62 A b s e n t P e r o x i s o m e s , L i v e r 2 1 16 + 2 759.87 Imp: Z e l l w e g e r S y n d r o m e { Ce reb rohepa to r ena l S y n d r o m e ) 2 1 16 * 2 277.8 R e d u c e d Sed imen tab le C a t a l a s e Act iv i ty 2 1 16 + 2 754.00 B r o a d N a s a l Br idge 2 1 16 + 2 756.88 V a c u l a r Degenera t ion , Car t i l age Matr ix , F o c a l 2 1 16 + 2 753.18 R e n a l M i c r o c y s t s 33299 2 1 15+1/2 756.34 L Rib A n o m a l i e s 2 1 15+1/2 748.51 Smal l Lungs 2 1 15 * 1/2 751.49 Malro ta t ion , Midgut 2 1 15+1/2 756 18 Segmen ta t ion A n o m a l i e s , Ver tebra l B o d i e s , C e r v i c a l , T h o r a c i c , a n d Lumbar 2 1 15 + 1/2 754 20 S c o l i o s i s , Left (Cerv ica l ) 2 1 15+1/2 754.73 Club Fee t 2 1 15 + 1/2 754.22 Spina l Retrof lexion (Cerv ica l ) 2 1 15*1/2 741.98 C e r v i c o t h o r a c i c R a c h s c h i s i s 2 1 15*1/2 740.02 A n e n e c e p h a l y (Holo-Acran ia ) 2 1 15*1/2 Imp: Mult i factorial N T D 2 1 15*1/2 759.11 S m a l l Adrena l s 33951 1 1 22 759.04 A c c e s s o r y S p l e e n 1 1 22 758.58 4 6 , X X , - 1 3 , + der(13), t (13;15) 1 1 22 740.02 A n e n c e p h a l y 1 22 P N D o f Cleft L ip not conf i rmed due to Fragmenta t ion 1 1 22 753 00 D y s p l a s t i c K i d n e y s 1 1 22 751.49 Malro ta t ion o f S m a l l a n d L a r g e Intestines 1 1 22 747.5 Sing le Umbi l ica l Ar te ry 34461 1 1 N o Abnormal i t ies are F o u n d in Intact Par t s 1 1 747.5 2 V e s s e l C o r d 1 1 758.00 Imp: Down ' s S y n d r o m e - 4 7 , X Y , + 21 3456S 4 2 13 * 6 758.58 Imp: U n b a l a n c e d R e c i p r o c a l Trans loca t ion , 4 6 , X Y , - 9, der(9), t(6:9)(q25;p24)pat 4 2 13 + 6 746.4 B i c u s p i d Aor t ic V a l v e 4 2 13 + 6 745.50 ? Sli t- l ike F o r a m e n O v a l e 4 2 13 + 6 754.73 Bila tera l Club F e e t Appendix III Autopsy Findings Coda Method Amniotic EGA at No: o(TA Fluid Termination Narrow D i agnos i s : Code: 747 41 Pe rs i s t en t L Supe r io r V e n a C a v a 746.1 ? D y s p l a s t i c T r i cusp id V a l v e 747.32 Subpulmonic S t e n o s i s 741.90 R a c h i s c h i s i s , Thoraco lumbar Imp: Mult i factorial N T D 758.00 Imp: D o w n ' s S y n d r o m e - 4 7 , X Y , + 21 N o Deve lopmen ta l A n o m a l i e s in Intact Pa r t s 755.50 Bi lateral 5th Finger Cl inodac ty ly 758.58 Imp: Pal l i s te r -Ki l l ian ( te trasomy 12p m o s a i c ) S y n d r o m e P N D o f S a c r a l A g e n e s i s Not Conf i rmed Due T o Fragmenta t ion N o Deve lopmen ta l A n o m a l i e s in Pa r t s Ava i l ab le Thoraco lumbar R a c h i s c h i s i s Imp: Mult i factorial N T D 778.5 751.01 758.00 L a r g e Bi la tera l C y s t i c N u c h a l H y g r o m a Hypop las t i c Aor t ic A r c h IUD - retent ion ? ? , l e s s than 1 w e e k E d e m a of D o r s u m o f H a n d s a n d F e e t S m a l l M e c k e l ' s Diver t iculum Imp: D o w n ' s S y n d r o m e - 4 7 , X X , + 21 16 • 1/2 16 • 1/2 16 * 1/2 16 * 1/2 16 * 1/2 748.58 T w o L o b e d R Lung 754.73 R C lub Foo t N o N u c h a l W e b b i n g w a s Demons t r a t ed Imp: U / S Identified N u c h a l Th icken ing N o Other D e v . A n o m a l i e s 17 * 1/2 17 * 1/2 17 * 1/2 17 * 1/2 17 * 1/2 17* 1/2 17 * 1/2 17 * 1/2 17 * 1/2 17 • 1/2 17 • 1/2 17 * 1/2 17 * 1/2 17 • 1/2 17 * 1/2 17 + 1/2 17 * 1/2 756.30 11 ribs 742.28 A b s e n c e of Olfactory Bulbs and Trac t s 759.21 C y s t i c C h a n g e s of Thyro id 751.78 He te ro top ic Panc ra t i c T i s s u e 758.10 Imp: Tr i somy 13 S y n d r o m e - 4 7 , X Y , + 1: 753.01 M e c k e l ' s Divert iculum 753.88 D i s t e n d e d Urinary Bladder 748.58 Incomplete Lung F l s su r ing 746.00 Pulmonary A t r e s i a 749.20 Cleft L ip , Left 752.86 M i c r o p e n i s 749.20 Cleft Pa la t e , Left 751 49 Mal ro ta t ion o f Intestines 747 5 S ing le Umbi l ica l Ar te ry 745.20 Te t ra logy o f Fallot 74741 Pe rs i s t en t L Super io r V e n a C a v a 746.88 Po lyva tvular Nodula r D y s p l a s i a 747.26 Over r id ing A o r t a 745.49 Vent r icu la r S e p t a l Defec t 753 69 Urethral M e a t a l S t e n o s i s a n d Fork ing 8- 19 wks 8- 19 Wks Bila tera l Cleft Pa l a t e P N D o f D a n d y W a l k e r Malformat ion Not Conf i rmed D u e to Fragmenta t ion P N D of H y d r o c e p h a l u s Not Conf i rmed D u e T o Fragmenta t ion Bi la tera l Cleft Lip Arno ld -Chia r i (Chiar i T y p e II) Malformat ion Hydrocepha lus L u m b o s a c r a l M e n i n g o m y e l o c e l e Imp: Mult i factorial N T D 751.58 752.88 511.9 762.8 761.2 751.24 Abnormal C l o a c a l Part i t ioning (blind ending colon) Ambiguous Geni ta l i a Bi la tera l P leura l Effusion A m n i o n N o d o s u m Ol igohydramnios S e q u e n c e A n a l A t r e s i a Urethra l S t e n o s i s Imp: Urorec ta l S e p t a l Mal format ion S e q u e n c e (aka C l o a c a ! D y s g e n e s i s S e q u e n c e ) Pulmonary H y p o p l a s i a 742 48 C e r e b e l l a r Hern ia t ion 74! 08 Arno ld Ch i a r i T y p e II Malformat ion 741 08 L u m b o s a c r a l O p e n Neura l Tube 742 48 E longa t ion & Flat tening o f the Bra ins tem Imp: Mult i factorial N T D 742 54 Hydromye l i a Appendix III Autopsy Findings Code Method Amniotic EGA at No: ofTA Fluid Termination Narrow D i a g n o s i s : Code: 742.48 Midbra in Tec t a l B e a k i n g 742.48 Smal l Pos te r io r F o s s a 753.16 742.26 748.18 752.48 751.24 747.5 751.21 762.28 Bila tera l C y s t i c R e n a l D y s p l a s i a A loba r Ho lop rosencepha ly Hypo te lo r i sm S ing le Nost r i l A b s e n t Externa l Gen i t a l i a Urethral A t r e s i a A n a l A t r e s i a S ingle Umbi lc ia l Artery Con jo ined Urinary Bladder a n d Uterus C o l o n E n d s Blindly S o m e Vi l lus Dysmatur i ty A m n i u m N o d o s u m , P l a c e n t a Imp: H o l o p r o s e n c e p h a l y & C l o a c a l D y s g e n e s i s 746.4 D y s p l a s t i c B i c u s p i d Aor t ic V a l v e 746.88 Po lyva lvu la r D y s p l a s i a 754.50 Bi la tera l Equ inova rus , Fee t 753.99 Pers i s ten t P a r a m e s o n e p h r i c Ducts 742 48 Bi la tera l C h o r o i d P lexus C y s t s 758.20 a Imp: T r i s o m y 18 S y n d r o m e & Pers i s t en t P a r a m e s o n e p h r i c Duct 755.51 Abnorma l H a n d Pos i t ion ing , 2 & 5 digits over lapping 3 & 4 digits 758.20 762.8 751.62 751.01 755.50 755.01 752.86 Imp: T r i s o m y 18 S y n d r o m e - 47 , X Y , + 18 Immature C h o r i o n i c Villi S h o w i n g B a s e m e n t M e m b r a n e Minera l i za t ion F o c a l A r e a s of Ca lc i f i ca t i on in L ive r M e c k e l ' s Diver t iculum L H a n d , C l inodac ty ly of 5th Finger R H a n d with Thumb T a g P e n i s Urethral G r o o v e H a s Not F u s e d 746.09 B i c u s p i d D y s p l a s t i c Pu lmonary V a l v e 746.4 B i c u s p i d D y s p l a s t i c Aor t ic Va tve 745.49 V S D , Pe r imembranous 746.88 Po lyva lvu la r D y s p l a s i a 748.51 M i l d Pu lmonary H y p o p l a s i a 755.50 Bi la tera l 5th F inger Cl inodac ty ly 755.51 A b n H a n d Pos i t ion ing with 2nd & 5th F inge r s Over lapp ing 3rd & 4th 758,20 Imp: Tr i somy 18 S y n d r o m e - 47 , X X , + 18 755.38 T ib ia l H y p o p l a s i a - L L e g 755 24 ? Dis ta l Amputa t ions H a n d s 747.5 S ingle Umbi l ica l Ar te r ies 755.19 4 - 5 Syndac ty ly R H a n d 755.38 T ib ia l A p l a s i a - R L e g 759.89 Imp: Tib ia l A p l a s i a / H y p o p l a s i a or T ib ia l A p l a s i a / H y p o p l a s i a & Ec t rodac ty ly 755.19 2 - 5 Syndac ty ly L H a n d P N D of A n e n c e p h a l y not conf i rmed due to fragmentation Imp: Mult i factorial N T D N o Abnormal i t ies are found i n the intact parts 758.00 Imp: D o w n ' s S y n d r o m e - 4 7 , X Y , + 21 755.50 Bi la tera l C l inodac ty ly of Fifth F ingers 745.63 Par t ia l A V C a n a l Defect 761.2 Pot ters F a d e s , O l igohydramnios Effect 742.28 A b s e n t Olfac tory Bulbs 753 16 Bi la tera l Mul t i cys t i c D y s p l a s t i c K i d n e y s 748.51 Pu lmonary H y p o p l a s i a 753.16 Imp: Mul t i cys t i c D y s p l a s t i c K i d n e y s 741,90 740,02 Imp: Mult i factorial N T D R a c h i s c h i s i s , T h o r a c i c A n e n c e p h a l y 755,50 Bi la tera l 5th Finger Cl inodac ty ly 757.2 L S i m i a n C r e a s e 751.01 M e c k e l s Diver t iculum Imp: Var i a t ion in Norma l P h e n o t y p e C o u p l e Termina ted b e c a u s e of i n c r e a s e d A F P 747.5 S ingle Umbi l ica l Artery P N D of Arnold Chia r i Mal format ion not confirmed due to fragmentat ion 741.01 Lumbar M e n i n g o m y e l o c e l e 754,73 Bi la tera l Clubfoot 755.51 Over l app ing F ingers Appendix III Autopsy Findings 152 Cods Method No: of TA Amniotic EGA at Fluid Termination Narrow D i a g n o s i s : Codo: Imp: Mult i factorial N T D 762.8 Imp: Amnio t ic B a n d S y n d r o m e 755.24 Dis ta l Amputat ion, Digi ts 3 - 5 , Left H a n d , Amnio t ic B a n d s 755.19 Syndac ty ly of 2-5 t oe s , Bilateral 749.29 Bi la tera l Cleft Lip 749.29 Bi la tera l Cleft Pa la te ? A t y p i c a l P N D of A c r a n i a Not Conf i rmed Imp: Mult i factorial N T D 742.58 T h o r a c o c e r v i c a l S u b a r a c h n o i d C y s t C o m p r e s s i n g S p i n a l C o r d 74 1 98 L u m b o s a c r a l M e n i n g o m y e l o c e l e 747.5 S ingle Umbi l ica l C o r d 753.00 R e n a l A g e n e s i s , L 753.16 Mul t icys t ic R e n a l D y s p l a s i a , R 753 88 Rudimentary Urinary Bladder 748.51 Pulmonary H y p o p l a s i a 752.38 Rudimentary Uterus 759.18 G o n a d a l Res t , L A d r e n a l G l a n d 752.10 Absen t R Fa l lop ian T u b e 762.60 753.20 757.8 755.51 748.18 759.89 750.18 754.78 '754.78 754.88 Short Umbi l ica l C o r d L Hydronephros i s - Mi ld P te ryg ia at Axi l lae a n d K n e e s Bi la tera l F inger Over lapp ing B r o a d N o s e Imp: P e n a S h o k e i r S y n d r o m e Protuberant Tongue Plantar F l ex ion , R Foo t Dors i f lex ion , L Foo t A b n Limb Pos i t ion ing 754.00 744.88 756.08 755.88 755 88 742.28 755.88 Prominent F o r e h e a d Shor t ened N e c k H e a d i s En la rged and W i t h A S h a p e S u g g e s t i v e o f C l o v e r i e a f Skul l W i d e n e d T rabecu l ae M a r k e d Shor ten ing of Long B o n e s M a r k e d B o w i n g of L o n g B o n e s Pulmonary H y p o p l a s i a W i d e n i n g of L o n g B o n e M e t a p h y s e s Neurona l He te ro top ias Fa i lure of P rope r Format ion of the H i p p o c a m p u s Di so rgan iza t ion of Endochondra l G r o w t h Pla te N o Deve lopmen ta l A n o m a l i e s in Intact Par t s 758.10 Imp: T r i s o m y 13 S y n d r o m e - 4 7 , X Y , + 13 745.49 Vent r icu la r S e p t a l Defec t 745.11 Double Outlet R Vent r ic le 746 oo A b s e n t Pu lmonary V a l v e with Absen t Duc tus Ar te r iosus 75500 H e x a d a c t y l y 749 21 Bi la tera l Cleft L ip 749 21 Bi la tera l Cleft Pa l a t e 747.5 S ing le Umbi l ica l Ar te ry 758.10 Imp: T r i s o m y 13 S y n d r o m e - 4 7 , X Y , + 13 228.1 C y s t i c H y g r o m a 758.60 Imp: Turner ' s S y n d r o m e - 4 5 , X 747.5 2 - V e s s e l C o r d 778.0 S e v e r e H y d r o p s 747.10 P reduc ta l C o a r c t a t i o n of Aor t a , B i c u s p i d Aor ta 748.51 Pu lmonary H y p o p l a s i a 762 28 Vi l lus E d e m a , P l a c e n t a 778.5 M a r k e d D o r s a l E d e m a , hands a n d feet 753 i s Multiple S imple (hydronephrot ic) L R e n a l C y s t 757 2 R S i m i a n C r e a s e 755.51 Over l app ing F inger s , Bilaterally 759.21 C y s t i c D y s p l a s i a of Thy ro id 524.0 M i c r o g n a t h i a 751.68 G e n e r a l i z e d Intrahepatic Bile S t a s i s , Probably S e c o n d a r y to Ext rahepa t ic Bil iary O b s 742.88 G e r m i n a l E m i n e n c e Hemorrhage , unruptured, R 746 6 Po lyva lvu la r D y s p l a s i a with A t r e s i a and S t e n o s i s o f Mit ra l V a l v e 753.41 Dupl ica t ion of L Ureter a n d L Col lec t ing S y s t e m 762.28 M i l d F o c a l E d e m a of C h o r i o n i c Villi with Hypermature Villi 751.72 N e a r Comple t e Annular P a n c r e a s 758.20 Imp: T r i somy 18 S y n d r o m e 756 61 M a s s i v e L Diaphragmat ic Hern ia with a b s e n c e o f L Hemid iaphragm with res idua l L d iaphragmat ic band i x III Autopsy Findings Code Method Amniotic EGA at Narrow D i a g n o s i s : No: of TA Fluid Termination Code: 756.61 Diaphragmat ic Hern ia wi th herniat ion of small bowel , L L o b e o f L ive r , & S t o m a c h in to L ches t cav i ty 759.08 Sp len ic Loba t ion 756.61 Diaphragmat ic Hern ia wi th Heart , M e d i a s t i n a l Disp lacement into R C h e s t C a v i t y 751.49 M o b i l e P rox ima l S m a l l B o w e l , C a e c u m a n d S i g m o i d 745.48 Pe r imembranous V S D 746.88 Hypop las t i c L Vent r ic le 747.21 S e v e r e Tubular H y p o p l a s i a of Aor t ic Isthmus with P reduc ta l C o a r c t a t i o n 747.41 Pers i s ten t L Super io r V e n a C a v a 748 58 Incomplete Loba t ion of Lungs , Bilaterally 751 01 M e c k e l ' s Diver t iculum 751.73 E c t o p i c P a n c r e a s 748.61 Bi la tera l Pu lmonary H y p o p l a s i a i 745.4B V S D , muscular i 746 4 Dysp la s t i c B i c u s p i d Aor t ic V a l v e t 746 88 M i l d Po lyva lvu la r D y s p l a s i a t 744.88 ? M i l d N u c h a l Swel l ing i 747 19 M i l d H y p o p l a s i a a n d C o a r c t a t i o n of Aor t i c A r c h i 758 20 Imp: T r i somy 18 S y n d r o m e - 4 7 , X Y , + 18 i 749.19 Cleft L ip i 755.51 A b n H a n d Pos i t ion ing - Camp to d ac ty ly I 751.01 M e c k e l ' s Diver t iculum I 753.32 H o r s e s h o e K i d n e y Imp: M o s a i c 4 6 , X X , del(18)(p11) / 4 6 , X X , i18q) N o Abnormal i t ies in Intact Par t s 742 39 Hydrocepha lus - En la rged H e a d (90th Percent i le) 764.9 M i l d Intrauterine G r o w t h Re ta rda t ion 759.82 749.06 524.0 748.18 750.11 744.24 756.02 764.9 750.28 756.17 744.91 752.81 747.5 751.78 751.49 748.58 748.69 748.51 755.19 755.09 743.8 753.00 753.00 755.60 752.71 Imp: Smi th -Lemi -Opi t z (Type II) Cleft Pa la t e , Mid l ine S m a l l Mand ib l e Upturned N o s e wi th Smal l N a r e s a n d C h o a n a e A b b r e v i a t e d T o n g u e L o w set ea r s with sha l low auditory c a n a l s Hyper t e lo r i sm E x c e s s S c a l p T i s s u e , Occ ipu t M e c o n i u m igmentat ion, P l acen t a l membranes S m a l l for G e s t a t i o n a l A g e (22 wks ) Prominent G ing iva l R i d g e s Segmenta t ion Defec t s and F u s e d Ver tebrae , S a c r u m a n d absent P e d i c l e s Cran io fac i a l D y s m o r p h i s m D y s p l a s t i c abdominal t e s t e s S ing le Umbi l ica l Artery H y p e r p l a s i a , Islets of Langerhan ' s , P a n c r e a s Mal ro ta t ion of Intestine D y s p l a s t i c Pulmonary P a r e n c h y m a Bi la tera l Uni loba ted Lungs H y p o p l a s i a of Lungs Syndac ty ly 2 -3 ,and 5-6, Fee t H e x a d a d y l y , P o s t a x i a l H a n d s 8i Fee t C a t a r a c t s a n d Opt i c N e r v e H y p o p l a s i a , E y e s Ol igohydramnios S e q u e n c e A g e n e s i s o f K i d n e y s a n d Uterus , Bi la tera l Digi ta l ized Thumbs & G r e a t T o e s M a l e Pseudohermaphrod i t i sm - external femal genital ia with absent uterus a n d fallopian tubes 751.11 Je junal A t r e s i a 756.71 Right S i d e d G a s t r o s c h i s i s 754 so Bi la tera l Ta l ipes Equ inovarus 751.20 C o l o n i c A t r e s i a 26 (dates). 20 (G.P.) 26 (dales). 20 (G.P.) 26 (dates), 20 (G.P.) 26 (dates), 20 (G.P.) 26 (dates), 20 (G.P.) M i l d Chor ioamnion i t i s C y s t i c H y g r o m a Imp: Fea tu res Cons i s t en t W i t h Turners S y n d r o m e Re ten t ion for 6 w k s ? G e n e r a l i z e d E d e m a , D o r s u m of Fee t , Th igh & A r m 19 + 1/2 19 * 1/2 758 82 l m p : 4 6 , X Y / 4 7 , X X Y M o s a i c N o Deve lopmen ta l A n o m a l i e s 19 * 1/2 19 + 1/2 19 • 1/2 19 * 1/2 19 • 1/2 744.28 759.04 D e p r e s s e d N a s a l Bridge T i s s u e Cons i s t en t W i t h Origin F r o m an Ompha loce l e Adrena l C o r t i c a l Res t E a r s are Th ickwal led with F o l d e d L o b e s A c c e s s o r y S p l e e n 742.39 H y d r o c e p h a l u s Appendix III Autopsy Findings 154 Method of TA Amniotic EGA at Fkid Termi nation Narrow D i a g n o s i s : Code: 747.5 S ing le Umbi l ica l Ar te ry 742.88 A b s e n t Olfac tory N e r v e s 12 + 1/2 12 + 1/2 P N D of C y s t i c H y g r o m a Not Conf i rmed D u e to Fragmenta t ion V S D , Pe r i membranous , La rge Imp: T r i somy 18 S y n d r o m e - 4 7 , X X , + 18 Po lyva lvu la r D y s p l a s i a , T V , P V , M V , A V 742.48 D y s g e n e s i s of Ol ivary N u c l e u s 753.32 C r o s s e d R e n a l E c t o p i a wi th F u s i o n 747.5 2 V e s s e l Umbi l ica l C o r d 762.80 S m a l l P l a c e n t a wi th Short Umbi l ica l C o r d 759.11 Hypop las t i c A d r e n a l G l a n d s 745 63 C o m p l e t e Atr ioventr icular S e p t a l Defec t 758,58 Imp: Triploidy - 6 9 , X X X 755.19 S y n d a c t y l y of 3 rd & 4th Digi ts o f R H a n d 744.24 L o w Se t E a r s 749.20 L Cleft Pa l a t e 749.20 L Cleft L ip 524.0 Mic rogna th i a 756.02 Hyper te lo r i sm 747 41 Pe rs i s t en t L Supe r io r V e n a C a v a 740.02 A n e n c e p h a l y 748.51 S m a l l Lungs 755.50 Bi la tera l 5th F inger Cl inodac ty ly 741.90 C e r v i c a l R a c h i s c h i s i s Imp: Mult i factorial N T D 745,63 A V C a n a l Defect , Comple t e 745 58 A S D , La rge , C o m m o n Atr ium 747.28 Subaor t i c S t e n o s i s , M o d e r a t e 75802 Imp: T r a n s l o c a t i o n Down ' s S y n d r o m e - 4 6 , X Y , - 13 , + der(13), t (13;21) N o Othe r Deve lopmen ta l A n o m a l i e s 742 39 H y d r o c e p h a l u s 748.51 Pu lmonary H y p o p l a s i a 753.88 ? M e g a c y s t i s 759.7 U n k n o w n et iology of Limb H y p o p l a s i s ? Ol igohydramnios S e q . o r V a s c u l a r Obs t ruc t ion 762.20 P l a c e n t a with F o c a l Infarction 742.88 Ge rmina l E m i n e n c e Hemorrhage 755.38 Hypop las t i c L L o w e r Limb 744.28 ? Infraorbital L o b e s 744 24 L o w Se t E a r s 761 2 O l igohydramnios S e q u e n c e 753,00 Bi la tera l R e n a l D y s p l a s i a 752 84 A b s e n c e o f P ros t a t e G l a n d 753,22 M e g a u r e t e r 524,0 Mic rogna th i a 752.51 U n d e s c e n d e d T e s t e s 754.78 A b n L Foo t wi th S ing le T o e 744.24 L o w Se t E a r s 762.28 Par t ia l P l a c e n t a Circumvat la te 749.03 Cleft Pa la t e , Pos te r io r 748,51 Smal l Lungs 756.62 M i l d E v e n t r a t i o n of L Hemid iaphragm r? Ependymi t i s 742 38 S t e n o s i s of Aqueduc t 772 1 O l d Intraventricular Hemorrhage 755.30 Limb R e d u c t i o n Anoma ly (lower Limbs) 755.50 Digi tal izat ion of Thumb L H a n d 755,19 Syndac ty ly of Digi ts 1-3 L H a n d 742.48 Abnormal Cerebe l l a r Lep tomen inges (pia) 742.88 A b s e n c e of Olfactory N e r v e s 755,32 •? Absen t F ibu la , L L e g 755.32 ? A b n & Hypop las t i c T i b i a , L L e g 760.B Imp: Po ten t ia l Te ra togen ic Insult at 6 w k s D e v . / M a t . B leed ing Dia thes i s / M C A 742.39 M i l d H y d r o c e p h a l u s 742.41 A b s e n c e of C o r p u s Ca t lo sum + Cinguhim N o Abnormal i t ies in Intact Par t s 758.61 Imp: C P M 4 5 , X / 4 6 , X , + marker 755.19 L Foo t Syndac ty ly (2nd & 3rd T o e s ) 758.58 Imp: Triploidy 747,5 S ingle Umbi l ica l Artery 759.11 A d r e n a l H y p o p l a s i a Appendix III Autopsy Findings Method ot TA Amniotic EGA at Fluid Termination Narrow D i a g n o s i s : Coda: 752.28 Smal l P l a c e n t a 746.4 B i c u s p i d Aor t i c V a l v e 764,9 A s y m m e t r i c a l I U G R 748.51 Pu lmonary H y p o p l a s i a 755.19 R H a n d S y n d a c t y l y (3rd & 4th F ingers ) 748.58 A b n Lung Loba t ion 756.15 Butterfly Ver t eb rae , T h o r a c i c Imp: Mult i factorial N T D 741.08 L u m b o s a c r a l M e n i n g o m y e l o c e l e 741.08 H y d r o c e p h a l u s 741.08 Thining of C e r e b r a l Mant le 756.79 Protuberant A b d o m e n but N o Ompha loce l e 746.1 Hypop las t i c D y s p l a s t i c T r i cusp id V a l v e 746 4 D y s p l a s t i c B i c u s p i d Aor t ic V a l v e 778.5 M i l d G e n e r a l i z e d S u b c u t a n e o u s E d e m a 746.00 Pu lmonary A t r e s i a with Intact Ventr icular Sep tum 746.68 Hypoplas t i c R Vent r ic le 755,88 Mi ld Shor ten ing of Limbs - Dis ta l A n d Proximal 755.50 B i la te ra l 5th Finger Cl inodac ty ly 758.00 Imp: Down ' s S y n d r o m e - 47 , X X , + 21 13 * 1/2 13 + 1/2 13 • 1/2 13* 1/2 N o Deve lopmen ta l A n o m a l i e s in Intact Pa r t s P N D of C y s t i c H y g r o m a Not Conf i rmed D u e to Fragmenta t ion 762.28 Immature C h o r i o n i c Villi S h o w i n g Mild N o n s p e c i f i c Vil lus E d e m a 753,38 A F e w Di la ted Lympha t i c in the Kidney 778 o Imp: Fe t a l Hydrops N o Othe r Deve lopmen ta l Abnormal i t ies in Intact Par t s 753.00 Bi la tera l R e n a l A g e n e s i s 758.60 778,0 776.5 748.51 Imp: Turner ' s S y n d r o m e - 4 5 , X H y d r o p s Fe ta l i s Abdomina l A s c i t e s C o a r c t a t i o n o f A o r t a C y s t i c H y g r o m a Diffuse S u b c u t a n e o u s E d e m a Pulmonary H y p o p l a s i a Bi la tera l P leura l Effusions 17 * 1/2 17 * 1/2 17 * 1/2 17 * 1/2 17 • 1/2 17 + 1/2 17 * 1/2 744.24 L o w - S e t E a r s 553.1 O m p h a l o c e l e Con ta in ing L i v e r a n d B o w e l 758.20 Imp: T r i s o m y 18 S y n d r o m e - 4 7 , X X , + 18 746 88 Po lyva lvu la r D y s p l a s i a 747.19 C o a r c t a t i o n o f A o r t a 74548 V S D , La rge , P e r i m e m b r a n e o u s 747.5 S ing le Umbi l ica l Ar te ry 740 21 Ininencephaly Ap te rus 756.60 A g e n e s i s o f Diaphragm, bilateral 756 79 E v e n t r a t i o n o f V i s c e r a : lungs, heart, l iver, sp leen , panc reas , & gut 74190 C e r v i c o t h o r a c i c R a c h i s c h i s i s 756 71 G a s t r o s c h i s i s (? Ompha loce le ) 746.4 B i c u s p i d Aor t i c V a l v e wi th S t e n o s i s 762.60 Shor t Umbi l ica l C o r d 757 8 P te ryg ia 744.28 Bi la tera l Anter ior Axia l la ry F o l d s 747,10 P r e d u c t a l C o a r c t a t i o n o f A o r t a 746 88 En la rged R Atrium 748.58 S m a l l S ing le L o b e d Lungs 7597 Imp: M C A , G a s t r o s c h i s i s - R a c h i s c h i s i s - A n e n c e p h a l y 756.16 F u s i o n of Ver t eb rae S 2 + S 3 757.2 B i l a t e ra l S i m i a n C r e a s e 755.50 Bi la tera l 5th F inger Cl inodac ty ly 747.5 S ing le Umbi l ica l Ar te ry 751.21 R e c t o v e s c i c l e Fis tu la 751.23 Imperforate A n u s 753 oo R e n a l A g e n e s i s , R K i d n e y 750 31 T r a c h e o e s o p h a g e a l F i s tu l a , T y p e IIIB 758 oo Imp: D o w n ' s S y n d r o m e 759,89 Imp: P robab le V A T E R A s s o c i a t i o n 753,00 R e n a l H y p o p l a s i a , L Kidney 22-23 22-23 22-23 741.90 754.73 Thoraco lumbar R a c h i s c h i s i s Bi la tera l C lub F e e t Imp: Mult i factorial N T D Appendix III Autopsy Findings 156 Method of TA Amniotic H G A at Fluid Termination Narrow D i a g n o s i s : Code: 758.20 imp: T r i somy 18 S y n d r o m e - 4 7 , X X , + 18 755.51 Camptodac ty ly wi th 2nd & 5th Digits Over lapp ing 3rd & 4th F inge r s 758 oo Imp: D o w n ' s S y n d r o m e - 4 7 , X Y , + 21 N o Deve lopmen ta l A n o m a l i e s Identified in the Intact Par t s H e a d i s s eve re ly d a m a g e d a n d not a s s e s s a b l e . 18 + 1/2 18 * 1/2 772.1 755.50 750.18 755.60 756.30 745 48 Old Intraventricular Hemor rhage Bi la tera l 5th F inger Cl inodac ty ly Protruding Tongue Short 1st T o e with Enlarged gap btwn 1st & 2nd T o e s 11 R i b s V S D , Sma l l , Pe r imembranous Imp: D o w n ' S y n d r o m e - 4 7 , X X , + 21 742.58 Lep tomeningea l G l i a l He te ro top ias 771.1 Imp: Intrauterine C M V Infection 754.73 C lub F e e t 742.48 C a v i t a t e d l e s ion , L Fronta l L o b e (Brain) 772.1 H e m o r r h a g e s , recent and old (brain) 744.24 L o w - S e t E a r s 757.2 S i m i a n C r e a s e - R H a n d 748 si Pulmonary H y p o p l a s i a 524.0 S m a l l Mandib le 742.25 Po lymic rogyr i a 742.28 N e c r o s i s of L o w e r Half C o r t e x Ris t Insula Pos te r io r (Brain) 7780 Hydrops Fe ta l i s 771.1 C y t o m e g a l i c Inclusion, including l ive r ,pancreas , intest inal tract, p lacen ta , adrena l cor tex, k idney & bra in 742.23 F o c a l L o s s of Externa l Granula r L a y e r , Cerebe l lum 762 or 77 Imp: A c q u i r e d M a t . Antiplatlet Ant ibody L e a d i n g to Fe t a l AHoimmune th rombocytopenia & hemorrhagic compl ica t ions 778.0 M i l d Fe t a l H y d r o p s 742 48 C e r e b r a l , C e r e b e l l a r a n d Bra in s t em Hemor rhages 511.9 Bi la tera l C l e a r P leura l Effus ions 762.23 ? Ma te rna l Antiplatelet Ant ibod ies 753.18 R e n a l Extramedul lary H e m a t o p o e s i s 21 N o D e v . A n o m a l i e s 21 758.84 Imp: 4 7 , X Y Y S y n d r o m e u 758.10 Imp: T r i s o m y 13 S y n d r o m e - 4 7 , X Y , + 13 14 N o Deve lopmen ta l A n o m a l i e s Identified in the Ava i l ab le Intact Par t s 23 753.80 Hypop las t i c B ladder 23 761.2 O l igohydramnios S e q u e n c e 23 754.88 L imb Con t r ac tu re s 23 762.20 P l acen t a l C h o r a n g i o m a 23 744.24 Flat L o w S e t E a r s 23 748.51 Hypop las t i c Lungs 23 748.18 S m a l l F la t tened N o s e 23 ' 753.16 Bi la tera l C y s t i c R e n a l D y s p l a s i a 12*1/2 G P . 14-15 date N o C o m m e n t s in Repor t About Fe t a l T i s s u e s E x a m i n e d 12+1/2 GP . 14-15 date 758.20 Imp: T r i s o m y 18 S y n d r o m e - 4 7 , X X , + 18 12+1/2 G P . 14-15 data N o Deve lopmen ta l A n o m a l i e s A r e Identified in Intact Pa r t s 19 + 1/2 19 + 1/2 N o Deve lopmen ta l A n o m a l i e s Imp: 4 5 , X / 4 7 , X X X M o s a i c 23 + 1/2 23 + 1/2 23 + 1/2 23 + 1/2 23+ 1/2 23+ 1/2 23+ 1/2 23 + 1/2 23 + 1/2 23 + 1/2 751.24 L o w Imperforate A n u s 750.24 A s y m m e t r i c High A r c h e d Pa l a t e 750.18 Shor t Lingual Frenulum 524.0 Mildly S m a l l Mandib le 742.28 H y p o p l a s i a of Olfactory Bulbs/Tract 742.58 Dupl ica t ion of Cen t r a l C a n a l , S p i n a l C o r d 759.08 Sp l engogonada l F u s i o n , Left S i d e 744.24 L o w S e t E a r s 755 40 Q u a d r a - A m e l i a (complete a b s e n c e o f all Limb B o n e s a n d Soft T i s s u e s ) 759 89 Imp: Limb A n o m a l i e s - U n k n o w n C a u s e 740.02 741.90 759.11 748.51 Imp: Mult i factorial N T D A n e n c e p h a l y C e r v i c a l S p i n a l R a c h i s c h i s i s Hypop las t i c A d r e n a l G l a n d s Pu lmonary H y p o p l a s i a 754.73 C lub Foot , Right 753 32 H o r s e s h o e K i d n e y s Appendix III Autopsy Findings 157 Code Mothoa Amniotic EGA at Narrow Diagnos i s : NO' of TA Fluid Termination Code: 1 1 17*5 741.98 L u m b o s a c r a l M e n i n g o m y e l o c e l e 1 1 17* 5 lmp:Mult ifactorial N T D 36993 2 1 19-20 740.02 A n e n c e p h a l y ( M e r o a c r a n i a ) 2 1 19-20 759.11 Adrena l H y p o p l a s i a 2 1 19-20 748.51 Pulmonary H y p o p l a s i a 2 1 19-20 753.38 C r o s s e d R e n a l E c t o p i a - L Hand 2 1 19-20 752.38 U n i c o m a t e Uterus (Absent L Uterine Horn) 2 1 19-20 Imp: Mult i factorial N T D , Incomplete Multerian F u s i o n 2 1 19-20 755.01 P r e a x i a l Thumb T a g (Po lydac ty ly - R Hand) 37114 ; 1 22 1 22 1 22 N o Deve lopmen ta l A n o m a l i e s in Intact Pa r t s H e a d / B r a i n Not A c c e s s a b l e , P N D findings not conf i rmed Imp: U / S identified B r a i n A n o m a l i e s 37134 2 1 16 * 5 747.64 R e t r o e s o p h a g e a l R S u b c l a v i a n Artery 2 1 16 * 5 758.10 Imp: T r i s o m y 13 S y n d r o m e - 47 , X X , + 13 2 1 15* 5 744.88 ? N u c h a l E d e m a 2 1 16 * 5 755.00 P o s t - A x i a l T a g - R hand 2 1 16 * 5 749.07 Cleft Soft Pa l a t e 2 1 16* 5 553.1 Ompha loce l e 2 1 16*5 747.5 Single Umbi l ica l Artery 2 1 16 + 5 756 17 S a c r o c o c c y g e a l T e r a t o m a 37154 1 1 10 + 6 758.60 Imp: Turner ' s S y n d r o m e - 4 5 , X 1 1 10 * 5 N o Deve lopmen ta l A n o m a l i e s in Pa r t s A v a i l a b l e 1 1 10 * 6 H e a d i s s eve re ly damaged a n d not a s s e s s a b l e . 37164 1 1 17 757.2 Bila tera l S i m i a n C r e a s e 1 1 17 1 17 758.00 755.50 Imp: D o w n ' s S y n d r o m e Bi la tera l 5th F inger Cl inodac ty ly 1 1 17 Multiple p lacenta l and fetal fragments 37166 1 1 14 * 1/2 755.01 Pre -ax i a l Po lydac ty ly , Bi la tera l Thumbs 1 1 14 * 1/2 S c a n t Internal V i s c e r a R e c e i v e d 1 1 14 * 1/2 758.10 Imp: T r i somy 13 S y n d r o m e 37169 1 1 17* 4 755.02 Polydac ty ly , P o s t a x i a l , Bi la tera l , Fee t 1 1 17 + 4 758 58 Imp: U n b a l a n c e d R o b e r t s o n i a n T r a n s l o c a t i o n = Tr i somic for C h r 13 1 1 17 + 4 755.00 Polydac ty ly , P o s t a x i a l , Bi la tera l , H a n d s 1 1 17 + 4 P N D o f S p i n a Bif ida Is Not Conf i rmed D u e T o Fragmenta t ion 1 1 17 + 4 754.73 Bila tera l C lub Foo t 37182 1 1 16+1/2 9p, 17+4 dates 756 08 C e p h a l o c e l e , Atre t ic , Occ ip i t a l , (No Neurona l Componen t ) 1 1 16+1/2 gp, 17+4 dates Imp: Like ly Mult i factorial N T D but cannot fully rule out A R condi t ion 1 1 16+1/2 gp. 17*4dates N o Other Deve lopmen ta l A n o m a l i e s 37304 , 1 14 758.00 Imp: D o w n ' s S y n d r o m e P N D o f E d e m a not conf i rmed due to fragmentation 1 1 14 N o Deve lopmen ta l A n o m a l i e s in Par t s Ava i l ab le 37326 , 1 21 Imp: Mult i factorial N T D 1 1 21 742.00 O c c i p i t a l E n c e p h a l o c e l e 1 1 21 741.98 M e n i n g o m y e l o c e l e 37327 2 1 19+1/2 758.00 Imp: D o w n ' s S y n d r o m e 2 1 19+1/2 757.2 L S i m i a n C r e a s e 2 1 19+1/2 756.08 Flat Occ ipu t 2 1 19*1/2 755.50 Bila tera l 5th F inger Cl inodac ty ly 2 1 19*1/2 748.51 Border l ine S m a l l Lungs 37341 2 1 23 748.51 Hypop las t i c Lungs 2 1 23 750.18 Protuberant T o n g u e 2 1 23 756.34 Shor t R i b s 2 1 23 756.18 Pla tyspondy ly 2 1 23 754.42 T e l e p h o n e R e c e i v e r F e m o r a 2 1 23 744.24 L o w S e t E a r s 2 1 23 754 00 Flat M i d f a c e 2 1 23 748.58 Incomplete Loba t ion o f R Lung 2 1 23 742.48 Migra t ion A b n in Incomplete Loba t ion 2 1 23 754.82 Nar row C h e s t 2 1 23 751.5B Multiple Diver t icula of the Append ix 2 1 23 754.4 S h o r t n e s s a n d B o w i n g of Limb B o n e s 2 1 23 762.28 P l a c e n t a with A c c e l e r a t e d Vil lus Matura t ion 2 1 23 Normal Trunk Length 2 1 23 759.18 Fe ta l H y p o x i c D i s t r e s s - M i c r o c y s t i c C h a n g e a n d S t e a t o s i s in A d r e n a l C o r t e x 2 1 23 742.48 B r a i n s h o w e d abnormally large infolding temporal l obes 743.63 Oligohydramnios Pheno type : Prominent Ep ican tha l F o l d s Appendix III Autopsy Findings 158 Code Method No: of TA Amniotic EGA at Fluid Termination Narrow D i a g n o s i s : Code: 753.16 753.88 744.24 524.0 753.00 753.16 748.51 Imp: R e n a l A d y s p l a s i a or S p o r a d i c R e n a l D y s p l a s i a and A g e n e s i s Al lantoic B ladder Ol igohydramnios Pheno type : L o w Se t E a r s Ol igohydramnios Pheno type : R e c e s s e d C h i n Uni la tera l R e n a l A g e n e s i s , Right K i d n e y Mul t i cys t i c D y s p l a s t i c Left K i d n e y Ol igohydramnios Pheno type : Pu lmonary H y p o p l a s i a Ol igohydramnios Pheno type : A m n i o n N o d o s u m 3 . 5 % R . R . for sibl ings in famil ies with no his tory and parents wi th no renal problems A b n . G y r a l Pa t te rn of C e r e b r a l H e m i s p h e r e s 754.00 F a c i e s cons i s ten t wi th Ol igohydramnios 753.00 R e n a l A p l a s i a 754.88 C h e s t H y p o p l a s i a 754.73 P o s s i b l e Club F e e t 755.24 4 Digi ts Only , Uppe r L i m b s - Bilateral 753 40 Absen t Ure te r s 751.24 Imperforate A n u s 748.51 Bi la tera l Pulmonic H y p o p l a s i a 753.88 Bladder H y p o p l a s i a 756 30 B i la te ra l R a d i a l R a y A n o m a l i e s , 11 ribs R s ide , 12 ribs L s i d e 759.89 Imp: P o s s i b l y V A T E R S y n d r o m e 755.26 Absen t R a d i u s Bilaterally 524 0 Mic rogna th i a 759.89 Imp: Multiple P te ryg ia S y n d r o m e 754.20 S e v e r e L e v o s c o l i o s i s 757 a Prominent Popl i tea l , Axi l lary & Cubi ta l P te ryg ia 748.51 S e v e r e Pu lmonary H y p o p l a s i a 744.24 L o w S e t E a r s 751.01 M e c k e l ' s Diver t iculum 744.88 ? M i l d N u c h a l Th icken ing 756.92 Abnormal B o n e Matura t ion 751.73 E c t o p i c P a n c r e a s 755.51 C l e n c h i n g F inger s , Bi la tera l 748.51 D e c r e a s e d Lung W e i g h t 762.28 H y p o v a s c u l a r Villi 747.5 S ingle Umbi l i ca l Artery 758.10 Imp: Tr i somy 13 S y n d r o m e 744 24 L o w - S e t E a r s 748.18 B e a k - L i k e N o s e 756.68 L S i d e d Diaphragmat ic Hern ia 742.1 M i c r o c e p h a l y 742 48 D e c r e a s e d B r a i n W e i g h t N o Deve lopmen ta l A n o m a l i e s in Intact Pa r t s 758,58 Imp: 4 6 , X Y , - 4, + der(4), t (4;11)(q35;q21)mat. 751.68 758.60 S u b c u t a n e o u s E d e m a Including D o r s u m o f H a n d s & Fee t N u c h a l C y s t i c H y g r o m a S u b c a p s u l a r Ca lc i f i ca t i on in L i v e r wi th H e m o s i d e r i n Depos i t ion Imp: Turners S y n d r o m e 744.24 Slightly L o w Se t E a r s 755.50 Bi la tera l C l inodac ty ly due to a b s e n c e o f M i d Pha lanx o n Left & S e v e r e H y p o p l a s i a o n Right 756.08 Flat Occ ipu t 750.18 Protruding Tongue 748.18 B r o a d Flat N o s e 758.00 Imp: D o w n ' s S y n d r o m e 17* a 17+ 6 758.00 Imp: D o w n ' s S y n d r o m e 755.50 Bi la tera l 5th F inger C l inodac ty ly wi th A b s e n c e of Middle Pha lanx 753.18 755,50 758.00 762.28 C y s t i c C h a n g e in K i d n e y s Bi la tera l 5th F inger Cl inodac ty ly Imp: Down ' s S y n d r o m e B a s e m e n t M e m b r a n e Minera l i za t ion of C h o r i o n i c Villi F r e s h fetal a n d p lacenta l t i s s u e (fetal parts) 755.50 Bi la tera l 5th F inger Cl inodac ty ly 758,00 Imp: D o w n ' s S y n d r o m e 745,63 A V C a n a l Defec t 757,2 Bi la tera l S i m i a n C r e a s e s N o other Deve lopmen ta l A n o m a l i e s 755 50 C l inodac ty ly R 5th Finger 758,00 Imp: D o w n ' s S y n d r o m e Appendix III Autopsy Findings 159 Code Method Amniotic EGA at No: olTA Fluid Termination Narrow D i a g n o s i s : Code: 744 88 7 Min imal N u c h a l Th icken ing 759.18 A d r e n a l C y t o m e g a l y wi th Impaired Neuroblas t Migra t ion 553.1 O m p h a l o c e l e 747 5 S ing le Umbi l ica l Artery 553.1/759 Imp: Isolated Ompha loce l e or B e c k w i t h - W e i d e m a n n S y n d r o m e 755 50 B rachydac ty ly of Right H a n d P N D o f C N S Abnormal i t ies Not Conf i rmed Due to Fragmenta t ion 754.4 Shor ten ing & B o w i n g o f L o n g B o n e s 755 38 A b s e n t Fibula 755 19 O l igosyndac ty ly o f Foo t 553 1 O m p h a l o c e l e Imp: Fuhrmann S y n d r o m e or another skele ta l d y s p l a s i a syndrome 755.88 ? Abnormal Dis ta l Oss i f i ca t i on 750 18 Protuberant T o n g u e 757.2 Bi la tera l S i m m i a n C r e a s e 758.00 Imp: D o w n ' s S y n d r o m e 755.50 Bi la tera l 5th F inger Cl inodac ty ly 755.50 B rachydac ty ly , H a n d s , M i l d 756.08 Hypo te lo r i sm 749.21 Bi lateral Cleft Pa la te 749.21 B i la te ra l Cleft Lip 743 1 Rudimentary E y e Ana logue F u s e d with C e r e b r a l T i s s u e 742.26 B r a i n Cons i s t en t wi th Ho lop rosencepha ly 753 oo R e n a l H y p o p l a s i a 751.73 E c t o p i c P a n c r e a s 75110 M e m b r a n o u s Duodena l A t r e s i a 762.28 L a r g e P l a c e n t a wi th Margina l ly A t t a c h e d Umbi l ica l C o r d 758.00 Imp: D o w n ' s S y n d r o m e 744.88 F a c i a l P h e n o t y p e o f T r i s o m y 21 757.2 R S i m i a n C r e a s e 755.50 Bi la tera l 5th F inger Cl inodac ty ly 759.24 L a r g e H a s s a l l ' s C o r p u s c l e , Thymus 751.33 Hi r schsprung ' s D i s e a s e A c u t e Fe t a l D i s t r e s s Asp i r a t ed Amnio t ic Fluid S q u a m e s , Lungs S c a n t Internal V i s c e r a are identified N o Deve lopmen ta l A n o m a l i e s in Pa r t s Ava i l ab le 758.00 Imp: D o w n ' s S y n d r o m e 7431 Mic rooph tha lmia 747 26 Over r id ing A o r t a 746.83 Subvafvular Pu lmonic S t e n o s i s 746.08 B i c u s p i d P u l m o n i c V a l v e 747.32 Pu lmonary Artery S t e n o s i s 746.1 D y s p l a s t i c Tr icusp id V a l v e 747 41 Pe rs i s t en t L Super io r V e n a C a v a 75550 Po lydac ty ly and Cl inodac ty ly o f 5th Finger , Bi la tera l 751.01 M e c k e l ' s Diver t iculum 754.00 D e p r e s s e d N a s a l Br idge 751 73 E c t o p i c P a n c r e a s 749.07 Cleft Soft Pa l a t e wi th Bifid Uvu la 744.28 Poor ly D e v e l o p e d Aura l P i n n a e 751 49 Intestinal Mal ro ta t ion 742.28 A b s e n t Olfactory Bulb a n d Tract 759.04 A c c e s s o r y S p l e e n 744.24 L o w Se t Ro ta ted E a r s 653 1 O m p h a l o c e l e 743.67 D e e p Orbital Cleft 752.86 S m a l l P e n i s with Poo r ly D e v e l o p e d C o r p o n a C a v e r n o s a 745 48 V S D , Pe r imembranous 745 20 Te t ra logy o f Fallot 752 88 Dis ta l Urethral Obs t ruc t ion S e c o n d a r y to Pros ta t ic A p l a s i a / H y p o p l a s i a 758 10 Imp: T r i s o m y 13 S y n d r o m e 753 88 M a s s i v e Dila ta t ion o f B l a d d e r 753.20 Bi la tera l Hydronephros i s 753.29 Bi la tera l Hydroure te r 524.0 Ret rognath ia 753 99 Congen i t a l Obs t ruc t ive Uropathy 756.79 M a s s i v e Dis ten t ion of Anter ior Abdomina l wall with M u s c u l a r At rophy 524 0 Mic rogna th i a 748 51 S e v e r e Pulmonary H y p o p l a s i a 761 2 O l igohydramnios S e q u e n c e 753.00 Medul lary D y s p l a s i a of K i d n e y s , Bi la tera l 762.28 S m a l l Amnio t ic C y s t in P l a c e n t a Appendix III Autopsy Findings 160 Method o(TA Amniotic EGA at Fluid Termination Narrow D i a g n o s i s : Code: 13 + 1/2 13 * 1/2 13 + 1/2 13 + 1/2 740.02 A n e n c e p h a l y w i t h . . . 759.11 S m a l l Adrena l s , At tenuated Fe t a l C o r t e x Imp: N T D & C H D P o s s i b l y due to Ma te rna l I D D M 747.10 P reduc ta l C o a r c t a t i o n of A o r t a 745 48 V S D , S m a l l 745.88 Po lyva lvu la r D y s p l a s i a (Tr icuspid V a l v e and Pulmonary V a l v e ) 741 90 C e r v i c a l R a c h i s c h i s i s 755.50 Bi la tera l 5th F inger Cl inodac ty ly 758.00 Imp: D o w n ' s S y n d r o m e 745.63 A V C a n a l Defec t T h e h e a d i s s eve re ly damaged . N u c h a l c y s t i c hygroma is not a s s e s s a b l e . 754.73 Bi la tera l Club F e e t 755.51 A b n . F l ex ion of F inger s , Left H a n d 742.48 Des t ruc t ion of C e l l s in Ventr icular zone with P h a g o c y t o s i s 759.89 Imp: N e u L o x o v a S y n d r o m e 742 48 Migra t ion Abnormal i ty , B r a i n 20 * 1/2 20- 1/2 20* 1/2 20* 1/2 743.32 756.02 759.7 749.09 759.11 751.49 752.86 Fla t tened N o s e C a t e r a c t u s Fe t a l E y e - Right Hyper te lo r i sm Imp: M C A , U n k n o w n C a u s e Cleft Pa la te H y p o p l a s i a of Adrena l s Mal ro ta t ion of B o w e l Smalt P e n i s H y p o s p a d i u s Con t rac tu res at the K n e e s 746.88 747.64 745.50 ? 753.00 228.1 778.5 756.08 745.63 746 88 762.28 748.51 758.00 B r o a d N o s e wi th Fla t tened D e e p N a s a l Bridge L o w Se t Pos te r io r ly R o t a t e d E a r s Va lvu la r C u s p Th icken ing & Shor ten ing of Aor t ic Va tve A g e n e s i s o f C o r p u s C a l l o s u m Ventr icul r Hyper torphy R e t r o e s o p h a g e a l Right S u b c l a v i a n Ar te ry H y p o p l a s i a o f F o r a m e n O v a l e R e n a l H y p o p l a s i a P o s t e r i o r N u c h a l - O c c i p i t a l C y s t i c H y g r o m a Uppe r Extremity a n d T h o r a c o a b d o m i n a l S k i n E d e m a Fla t tened Occ ipu t Par t ia l (Incomplete) A V C a n a l Ca rd iomega ly wi th hypertrophy of R Atr ium a n d Vent r ic le P l a c e n t a wi th E d e m a a n d Vi l lus Dysmatur i ty Lung H y p o p l a s i a Imp: Down ' s S y n d r o m e 778.5 M i l d S u b c u t a n e o u s E d e m a 746.1 H y p o p l a s i a o f T r i cusp id V a t v e 746 oo A t r e s i a o f Pu lmonic V a t v e Imp: Congen i t a l Hear t Defec t 746.88 H y p o p l a s i a o f R Vent r ic le 747.28 ? H y p o p l a s i a o f Duc tus Ar te r iosus 20 (G.P.) 20 (G.P.) 20 (G.P.) > 4 d a y s retent ion 756.71 G a s t roschi si s 762.8 A m n i o n Epi thel ium D i s p l a y s V a c u o l a t i o n (mic roscop ic ) G e r m i n a l E m i n e n c e Hemor rhage , Bi la tera l , B ra in , due to terminat ion Vil lus E d e m a , P l a c e n t a Adult T y p e P o l y c y s t i c K i d n e y D i s e a s e 18* 1/2 18 + 1/2 18 • 1/2 18* 1/2 18 * 1/2 18 - 1/2 18 * 1/2 743.1 D i so rgan i zed O c u l a r Deve lopment 762 a Imp: Amnio t i c B a n d C o m p l e x 744 91 C r a n i o f a c i a l D y s m o r p h i s m , S e v e r e 742.48 D i so rgan i zed B r a i n 756.12 K y p h o s c o l i o s i s , S e v e r e 743.1 Absen t G l o b e s 762.28 A b s e n t Amnion , P l acen t a l D i s c 751.62 E c t o p i c L i v e r 754.73 C lub Foot , Left 755.26 R a d i a l A g e n e s i s , L A r m 755.61 Amputa t ions 2nd and 5th T o e s R Foo t 762.8 Cons t r i c t i on B a n d s 2nd toe R Foo t 744.01 A b s e n t Externa l E a r s 762 8 Cons t r i c t i on B a n d s 4th 4 5th F inge r s L H a n d 748.10 Absen t N o s e 749.29 S e v e r e Clefting Pa l a t e Appendix III Autopsy Findings Code Method Amniotic EGA at No: ofTA Fluid Termination 18 * 1/2 18 - 1/2 Narrow D i a gnos i s : Code: 749.29 S e v e r e Cleft ing Lip 742.48 C r a n i a l Defec t wi th C e r e b r o v a s c u l o s a Format ion 762.60 Shor t /Absen t Umbi l ica l C o r d 742.39 H y d r o c e p h a l u s 742.48 Lep tomeningea l (cerebellar) Anoma ly N o Other Deve lopmenta l A n o m a l i e s 754,73 Right C l u b b e d Foot 756.08 Malformat ion o f Skul l wi th W i d e Flat C l i v i s 756 oa A b s e n c e o f Cribr i form P la te 743.67 Abnorma l Right Orbit 743.1 Rudimentary R E y e with E x t e n s i v e C o l o b o m a t u s Malf . 756.08 Hypop las t i c Pos te r io r F o s s a 754.73 Club Foot L S i d e 75588 Ar th rogrypos i s 743.1 A b n . L E y e wi th A b s e n c e of G a n g l i o n C e l l s a n d Opt ic N e r v e H y p o p l a s i a 762 8 Imp: Amnio t i c Rupture (Band) S e q u e n c e 754.20 T h o r a c i c S c o l i o s i s 756.08 Cafvar ium i s Defec t ive 748.10 Hypop las t i c R Nost r i l 742.48 Dis tor ted Cerebe l lum 742 4 2 Intracranial C y s t i c Structure 742.21 C o r p u s Ca l to sum A g e n e s i s 748 1 8 De fec t ive N o s e wi th T w o S e p a r a t e Trunk Format ion 742.48 L Fronta l L o b e Hern ia t ion Imp: Mult i factorial N T D - A n e n c e p h a l u s 740.02 A n e n c e p h a l u s 753.29 Bi la tera l Hydroure te rs 759.11 H y p o p l a s i a o f Adrena l G l a n d s 20 • 1/2 20 + 1/2 20 + 1/2 20 • 1/2 755.50 Bi la tera l 5th F inger Cl inodac ty ly 757.2 Split S i m i a n C r e a s e , R H a n d 757.2 S i m i a n C r e a s e , L H a n d 758.00 Imp: D o w n ' s S y n d r o m e 744.88 Slight N u c h a l Th icken ing N o Other Deve lopmen ta l Abnormal i t ies in Intact Pa r t s Slight N u c h a l Th icken ing . S e c t i o n taken of the nucha l sk in s h o w s mild interstitial e d e m a in the subu taneous t i s sue . There are no di lated lymphatic channe l s in this s ec t ion . 758 oo Imp: Down ' s S y n d r o m e 755,50 Bi la tera l 5th F inger C l inodac ty ly N o Deve lopmen ta l A n o m a l i e s 759 89 Imp: V A T E R syndrome , Th rombocy topen i a Absen t R a d i u s syndrome, or Hol t -Oram s y n d r o m e 755,25 L R a d i a l A p l a s i a Termina t ion a n d Au topsy performed in Seat t le 745 48 V S D , per imembranous 24 (G P.)/23 dates 24 (G.P.)/23 dates 24 (G.P.)/23 dates 24 (G.P.)/23 dates 24(G.P.)/23 dates 24(G.P.)/23 dates 753.16 753.29 753.69 747,5 S k i n S l ippage C h e s t A n d A n n s Definite Urinary Bladder Identified C y s t i c D y s p l a s i a Bo th K i d n e y s Nar rowing o f the Pefviureteral Junc t ion Nar rowing & Inturruption o f Pen i l e Urethra S ing le Umbi l ica l Ar te ry 553,1 O m p h a l o c e l e P N D o f C P C not Conf i rmed D u e T o Fragmenta t ion 745 48 V S D , Pe r imembranous 746,88 Po lyva lvu la r D y s p l a s i a 754,73 R Club Foo t 524 o Slight Mic rogna th i a 758 30 Imp: T r i somy 18 S y n d r o m e 758 10 Imp: T r i somy 13 S y n d r o m e 74548 V S D , Pe r imembranous N o Other Deve lopmen ta l A n o m a l i e s 745.4B V S D , Pe r imembranous 755.50 B i la te ra l 5th Finger Cl inodac ty ly , H y p o p l a s i a o f midphalanx 758.00 Imp: D o w n ' s S y n d r o m e 758 00 Imp: D o w n ' s S y n d r o m e 755.50 Bi la tera l 5th F inger Cl inodac ty ly N o Other Deve lopmen ta l A n o m a l i e s N o Other Deve lopmen ta l Abnormal i t ies Appendix III Autopsy Findings Code Method Amniotic EGAal Narrow D i a g n o s i s : TA Fluid Termination Code; 2 1 19 + 4 755.50 Mild Bi la tera l 5th Finger Cl inodac ty ly 2 1 19 * 4 758.02 Imp: 4 6 , X X , - 2 1 , + der(21), t (21:?) 2 1 25 Imp: Mult i factorial N T D 2 1 25 741.98 L u m b o s a c r a l M y e l o c e l e 1 16 758.00 Imp: D o w n ' s S y n d r o m e 1 1 16 N o Deve lopmen ta l A n o m a l i e s in Intact Par t s 2 1 20-21 756.61 Diaphragmat ic Hern ia 2 1 20-21 GP. 22 Dates Imp: Mult i factorial N T D 2 1 20-21 GP. 22 Dates 740.02 A n e n c e p h a l y 2 1 20-21 GP. 22 Dates 748.51 H y p o p l a s i a of Lungs 2 1 20-21 GP, 22 Dates 759.11 H y p o p l a s i a of Adrena l s 2 1 15 758.58 Imp: 4 6 , X X , r ec (18), dup, pinv(18)(p11.2;q23)mat 2 1 15 N o Deve lopmen ta l A n o m a l i e s Identified 2 1 13 762.7 Placen ta l with Chor ioamnion i t i s 2 1 13 746.5 D y s p l a s i a of Mit ra l V a l v e 2 1 13 755.50 Bila tera l 5th F inger Cl inodac ty ly 2 1 13 748.51 Pulmonary H y p o p l a s i a 2 1 13 745 48 V S D , L a r g e Subaor t i c 2 1 13 759.24 Thymic H y p o p l a s i a 1 13 762.28 P l a c e n t a wi th Sca t t e r ed Minera l i za t ion 1 13 745,11 Double Outlet R Vent r ic le 1 13 745,88 A b s e n c e o f Leaflet T i s s u e s , Pu lmonic V a l v e s a n d Aor t ic V a t v e s 1 13 747.10 Preduc ta l C o a r c t a t i o n o f Aor ta 1 13 746.1 D y s p l a s i a of Tr icusp id V a l v e 1 13 747,5 2 V e s s e l Umbi l i ca l C o r d 1 13 755,50 Bila tera l 5th Finger Cl inodac ty ly 1 13 228.1 C y s t i c H y g r o m a 1 13 758.00/75 Imp: Fea tu res Cons i s t en t wi th T21 or Di G e o r g e s S y n d r o m e 1 18 + 1/2 754,73 Bila tera l C lub Fee t 1 18+1/2 755.50 Bila tera l 5th F inger C l inodac ty ly , wi th mid phalanx hypop la s i a 1 18+1/2 745.48 V S D , pe r imembranous 1 18+1/2 751.01 M e c k e l ' s Diver t iculum 1 18*1/2 Imp: D o w n ' s S y n d r o m e 1 18 + 1/2 751,40 Malro ta t ion o f S m a l l B o w e l wi th C e a c u m a t t ached to the Ant. A b d . W a l l 1 18+1/2 748.58 Incomplete F i s s u r e Format ion , Bo th Lungs 1 18+1/2 746.4 B i c u s p i d Aor t ic V a l v e 1 13 + 2 758.02 ? Imp; U n b a l a n c e d R e c i p r o c a l T rans loca t ion - 4 6 , X X , - 2 1 , +der(18), t (18;21) 1 13 + 2 746,5 Nodular D y s p l a s i a Mit ra l V a l v e 1 13 + 2 755.51 Abnormal H a n d Pos i t i on 1 13 + 2 746.1 Nodular D y s p l a s i a T rucusp id V a l v e 1 19 + 2 755.50 Bila tera l 5th Finger Cl inodac ty ly 1 19 + 2 758.00 Imp: D o w n ' s S y n d r o m e 1 19 + 2 750.18 Protruding Tongue 2 1 17-18 742.48 Twin A Cerebe l l a r Malformat ion 2 1 17-18 759.08 Twin B Abnormal Loba t ion of S p l e e n 2 1 17-18 742.58 Twin A Per ivent r icular L e u k o m a l a c i a with Ca lc i f i ca t ion 2 1 17-18 742.88 Twin A Absen t Opt ic and Olfactory L o b e s 2 1 17-18 759.89 T w i n B C y c l o p i a with Rodumentary G l o b e Deve lopment 2 1 17-18 756.08 Twin B P r o b o s c i s A b o v e E y e Slit 2 1 17-18 750.28 T w i n B Absen t Philtrum 2 1 17-18 750.28 T w i n B S m a l l M o u t h 2 1 17-18 749,09 T w i n B W i d e l y Cleft Pa la te 2 1 17-18 744.23 Twin B Dysmorph ic E a r s 2 1 17-18 751.58 Twin B Anteriorly P l a c e d A n u s 2 1 17-18 753.00 T w i n B Hypop las t i c K i d n e y s 2 1 17-18 753.29 T w i n B Hydroure te rs 2 1 17-18 762.7 T w i n A Amnio t ic Infection S y n d r o m e 2 1 17-18 759.11 T w i n B Bi la tera l A d r e n a l H y p o p l a s i a 2 1 17-18 742.26 T w i n A S e m i l o b a r H o l o p r o s e n c e p h a l y 2 1 17-18 741.98 T w i n B L u m b o s a c r a l M e n i n g o m y e l o c e l e 2 1 17-18 756.18 T w i n B L 5 Ver tebra l D y s r a p h i s m 2 1 17-18 742.1 T w i n B M i c r o c e p h a l y 2 1 17-18 742.26 T w i n B A l o b a r H o l o p r o s e n c e p h a l y 2 1 17-18 742,58 T w i n B Per ivent r icu lar L e u k o m a l a c i a 2 1 17-18 742.48 T w i n B C e r e b e l l a r Mal format ion - H y p o p l a s i a of V e r m i s and Disp lacemen t o f H e m i s p h e r e s 2 1 17-18 742.28 T w i n B Absen t Pitui tary 2 1 17-18 742.88 T w i n B A b s e n t Olfac tory N e r v e s 2 1 17-18 742,88 T w i n B A b s e n t Op t i c N e r v e s 2 1 17-18 742.88 T w i n B A b s e n t cor t icofungal T r a c t s Appendix III Autopsy Findings Code Method Amniotic EGA at Narrow D i a g n o s i s : f TA Fluid Terr ni nation Code: 2 1 17 18 762.7 Twin B Amnio t ic Infection S y n d r o m e 2 1 17 18 753 99 ? T w i n B Th in Urorec ta l S e p t u m 2 1 17 18 748.58 T w i n B Bi la tera l Uni lobate Lungs 2 1 17 18 753.99 ? T w i n A Th in Urorec ta l S e p t u m 2 1 17 18 759.89 T w i n A C y c l o p i a with True S ing le G l o b e 2 1 17 18 743.63 T w i n A N o t c h e d L o w e r L i d 2 1 17 18 742.88 T w i n A Absen t Opt ic N e r v e 2 1 17 18 743.51 T w i n A Ret ina l D y s p l a s i a 2 1 17 18 756.08 T w i n A P r o b o s c i s A b o v e Orbit 2 1 17 18 750 28 T w i n A A b s e n t PhiRrum 2 1 17 18 750 28 T w i n A S m a l l M o u t h 2 1 17 18 749 09 T w i n A W i d e l y Cleft Pa la te 2 1 17 18 744.23 T w i n A D y s m o r p h i c E a r s 2 1 17 18 757 2 Twin A Abnorma l P a l m a r C r e a s e 2 1 17 18 754.73 Twin A Bi la tera l Club Fee t 2 1 17 18 553.1 T w i n A S m a l l O m p h a l o c e l e 2 1 17 18 762.20 T w i n A C h o r a n g i o m a , S m a l l 2 1 17 18 751.58 T w i n A Anter ior ly P l a c e d A n u s 2 1 17 18 742.48 T w i n A F u s i o n of Thalmi 2 1 17 18 753.29 T w i n A Hydroure te rs 2 1 17 18 752.38 T w i n A B i c o m u a t e Uterus 2 1 17 18 748.58 T w i n A Bi la tera l Abnormal Lung Loba t ion 2 1 17 18 759.11 Twin A Bi la tera l Adrena l H y p o p l a s i a 2 1 17 18 742.28 Twin A Absen t Pituitary 2 1 17 18 745.20 Twin A Tetra logy of Fallot 2 1 17 18 746.08 Twin A B i c u s p i d Pu lmonic V a l v e 2 1 17 18 746.6 T w i n A D y s p l a s t i c Mit ra l V a l v e 2 1 17 18 746.1 T w i n A D y s p l a s t i c Tr icusp id V a l v e 2 1 17 18 746.4 T w i n A D y s p l a s t i c Aro t ic V a t v e 2 1 17 18 742.1 T w i n A M i c r o c e p h a l y 2 1 17 18 758.58 Imp: T w i n s : 46 , X X , der(7), t(3;7)(q27;q36) mat 2 1 17 18 753.00 T w i n A Hypop las t i c K i d n e y s 2 1 17 18 757.2 T w i n B Abnormal P a l m a r C r e a s e 2 1 19 20 Wks 754.88 N a r r o w Ches t , Short R i b s 2 1 19 20 wks 754.4 B o w i n g of L o n g B o n e s 2 1 19 20 wks 755.67 Short B r o a d P e l v i s 2 1 19 20 wks 756.18 Flat tening of Ver tebra l B o d i e s with Cent ra l Anter ior S p i k e s 2 1 19 20 wks 754 88 F o c a l M e t a p h y s e a l S p i k e s on Long B o n e s 2 1 15 20 wks 754.88 Charac te r i s t i c His to logic Abnormal i ty of Rib , Iliac C r e s t a n d F e m u r 2 1 19 20 wks 748.51 Lung H y p o p l a s i a 2 1 19 20 wks 742.48 Radia l ly Or ienta ted G y r i , Inferior Tempora l L o b e s 2 1 19 20 wks 742.48 Abnormal Format ion of the H ippocampus 2 1 19 20 wks 759.04 T w o Smal l A c c e s s o r y S p l e e n s 2 1 19 20 wks 753.70 Patent U r a c h a l Remnan t s 2 1 19 20 wks 755.88 S e v e r e S y m m e t r i c a l Shor ten ing , Rhizomel ic and M e s o m e l i c , Uppe r 1 1 13 6 753.18 M i c r o c y s t i c C h a n g e s in Kidney 1 1 13 6 762 28 Fib ros i s a n d E d e m a o f P l acen t a l Villi 1 1 13 6 P N D o f C y s t i c H y g r o m a not Conf i rmed Due to Fragmenta t ion 1 1 13 6 758.10 Imp: T r i somy 1 3 S y n d r o m e 2 1 15 511.9 Pleura l Effusion 2 1 16 758.60 Imp: Turner 's S y n d r o m e 2 1 16 778.0 Fe ta l Hydrops 2 1 16 778.0 A s c i t e s 2 1 16 748 51 Pulmonary H y p o p l a s i a 2 1 16 747.21 Aort ic A r c h a n d Isthmus H y p o p l a s i a 2 1 16 746.1 Tr i cusp id V a l v e D y s p l a s i a 2 1 16 753.20 L Hydroneph ros i s 2 1 16 228.1 C y s t i c H y g r o m a , N u c h a l 2 1 22 Imp: Multifactorial N T D 2 1 22 759.11 Adrena l H y p o p l a s i a 2 1 22 N o R e c o g n i z a b l e C N S T i s s u e i s N o t e d 2 1 22 740.02 A n e n c e p h a l y 2 1 25 740.02 Both T w i n s A n e n c e p h a l i c 2 1 25 751.62 Both T w i n s S u b c a p s u l a r H e m o t o m a s in the L ive r 2 1 25 742.48 Both Twins Asp i r a t i on o f C e r e b r a l T i s s u e s in Bronchi and Alveo l i 2 1 25 759.11 Both Twins Bi la tera l A d r e n a l H y p o p l a s i a 2 1 25 ? Both Twins Multiple Subpleura l (?) Pe t ech i a l H e m o r r h a g e s 2 1 18 511.9 Bila tera l P leura l Effusions 2 1 18 757.8 Multiple P te ryg ia - N e c k , Antecubi ta l , Axil lary, Inguinal 2 1 18 749.07 Cleft Soft Pa la te 2 1 18 228 1 Circumferent ia l C e r v i c a l C y s t i c H y g r o m a 2 1 18 755.50 Abnorma l H a n d Pos tu re wi th Thumb Te the red to P a l m 2 1 18 755 62 F i x e d Dors i f lex ion of A n k l e s Appendix III Autopsy Findings 164 Code Method Amniotic EGA at Narrow D i a g n o s i s : No: of TA Fluid Termination Code: 2 1 18 755.64 F i x e d Hype r t ens ion at K n e e s 2 1 18 762.60 Shor t Umbi l ica l C o r d 2 1 18 748.51 S e v e r e Lung H y p o p l a s i a 2 1 18 753.00 M i l d R e n a l H y p o p l a s i a 2 1 18 742.48 B r a i n Infarction, Cor t ex , Bilateral 2 1 18 742.25 F o c a l Po lymic rogyr i a 2 1 18 764.9 I U G R 2 1 18 759.89 Imp: Cons i s t en t with Multiple P te ryg ium S y n d r o m e s 2 1 18 756.12 T h o r a c o - L u m b a r K y p h o s i s 2 1 18 756.90 S e v e r e l y R e d u c e d M u s c l e Bulk, H y p o p l a s i a v s . A p l a s i a 38349 2 1 20 N o Other Deve lopmen ta l A n o m a l i e s 2 1 20 Imp: Mult i factorial N T D 2 1 20 741.94 M e n i n g o c e l e , C o c c y g e a l wi th U lce ra t ed Soft T i s s u e C y s t O v e r S a c r u m 38356 1 1 14 754.88 S y m m e t r i c a l Shor t L i m b s 1 1 14 P N D o f H y d r o c e p h a l u s not conf i rmed due to fragmentation 1 1 14 756.34 B e a d e d R i b s 1 1 14 733.1 Multiple F rac tu re s Involving L o n g B o n e s 1 1 14 755.88 O s t e o p e n i a L o n g B o n e s 1 1 14 756.08 O s t e o p e n i a C a l v a r i a 1 1 14 756.50 Abnormal T y p e 1 P r o c o l l a g e n S y n t h e s i s 38364 1 1 18 758 00 Imp: D o w n ' s S y n d r o m e 1 1 18 762.28 Trophoblas t Irregularity 1 1 18 762.28 P l a c e n t a wi th F o c a l Vil lus E d e m a a n d S c l e r o s i s 1 1 18 757.2 Bila tera l S i m i a n C r e a s e s 1 1 18 755.50 Bila tera l 5th F inger C l inodac ty ly 38374 1 1 18 N o Other Deve lopmen ta l A n o m a l i e s in Pa r t s Ava i l ab le Fo r Examina t ion 1 1 18 757.2 S i m i a n C r e a s e , L H a n d 1 1 18 758.00 Imp: D o w n ' s S y n d r o m e 1 1 18 755.50 M i l d Bi la tera l 5th F inger C l inodac ty ly 38380 1 1 16 771.29 P C R P o s i t i v e for P a r o v i r u s B 1 9 D N A 1 1 16 778.5 S u b c u t a n e o u s E d e m a , M o d e r a t e , H a n d s a n d F e e t 1 1 16 771.29 Imp: Like ly P a r o v i r u s Infection 1 1 16 N o Deve lopmen ta l A n o m a l i e s 38291 1 2 16 + 3 758.61 Imp: M o s a i c Turner 's S y n d r o m e 1 2 16+3 N o Deve lopmen ta l Abnormal i t ies 38506 1 1 16 N o Deve lopmen ta l Abnormal i t ies 1 1 19 758.61 Imp: M o s a i c Turners S y n d r o m e 28522 2 1 17 753.00 Hypop las t i c K i d n e y s , Bilateral ly 2 1 17 752.38 R Hemiuterus 2 1 17 752.48 Ambiguous Externa l Gen i t a l i a 2 1 17 756.16 Vertebra l A n o m a l i e s L 2 - 4 2 1 17 756.30 11 R i b s , R S i d e 2 1 17 755.50 Bila tera l 5th Finger Cl inodac ty ly ' 2 1 17 755.24 Absen t Thumbs , Bilaterally ' 2 1 17 750.12 L a r g e T o n g u e 2 1 17 744.23 D y s p l a s t i c E a r s 2 1 17 744.91 Upslant ing Pa lpebra l F i s s u r e s 2 1 17 749.22 M e d i a n Cleft Pa l a t e 2 1 17 749.22 M e d i a n Cleft L ip 2 1 17 B r a i n T i s s u e L o s t Through Defec t 2 1 17 758.19 Imp: 4 6 , X X , - 1 3 , + ring 2 1 17 742 08 Probab le E n c e p h a l o c e l e , P o s t e r i o r Pa r i e t a l 2 1 17 747.21 Aor t i c A r c h H y p o p l a s i a , P reduc ta l 2 1 17 747 41 Pers i s ten t L Supe r io r V e n a C a v a 38524 2 1 16- 18 G.P 26 Dates 756 08 N o n o s s i f i e d Skul l 2 1 16 - 18 G P 26 Dates 754.88 S h o r t e n e d L o n g B o n e s 2 1 16- 18 G P 26 Dates 778.0 H y d r o p s Fe ta l i s 2 1 16- 18 G.P 26 Dates 748.51 Pulmonary H y p o p l a s i a 2 1 16- 18GP 26 Dates 742.39 P o s s i b l e H y d r o c e p h a l u s 2 1 16- 18 G.P 26 Dates 755 34 L Foo t , 1st t oe amputat ion 38550 2 1 15+5 749.07 S m a l l Cleft Soft Pa la te 2 1 15+5 757.31 R Thumb is R e p r e s e n t e d by a S k i n T a g 2 1 15+5 747.21 M i l d Tubular H y p o p l a s i a of the Preduc ta l A o r t a 2 1 15 + 5 747.5 Single Umbi l ica l Artery 2 1 15*5 750.32 T r a c h e o e s o p h a g e a l F i s tu la 2 1 15 + 5 753.00 Bila tera l R e n a l A p l a s i a 2 1 15 + 5 745.48 S m a l l Pe r imembranous V S D 2 1 15 * 5 758.20 Imp: T r i somy 18 S y n d r o m e 2 1 15 + 5 744.88 N u c h a l Th icken ing Appendix III Autopsy Findings 165 Method Amniotic EGA at of TA Fluid Termination Narrow D i a g n o s i s : Code: 746.88 C a r d i a c Va lvu la r D y s p l a s i a 22-23 22-23 22-23 Imp: Mult i factorial N T D L u m b o s a c r a l S p i n a Bif ida Conf i rmed P N D o f Arnold Ch i a r i Mal format ion Not Conf i rmed Due T o Fragmenta t ion Imp: Mult i factorial N T D M e n i n g o c e l e , L o w e r T h o r a c i c a n d Uppe r Lumbar N o Other Deve lopmen ta l Abnormal i t ies Imp: Turner 's S y n d r o m e G e n e r a l i z e d S u b c u t a n e o u s E d e m a T h e c ran ia l vault i s d a m a g e d a n d the neck is not identified therefore the c y s t i c hygroma cannot be conf i rmed. Imp: U n k n o w n C a u s e o f A n o m a l i e s P o s s i b l e Cran io fac i a l D y s m o r p h i s m , M i l d 741,80 748.51 753,32 751.01 747,5 740.02 759.11 Imp: Mult i factorial N T D S p i n a l R a c h i s c h i s i s Pulmonary H y p o p l a s i a H o r s e s h o e Kidney M e c k e l ' s Diver t iculum Single Umbi l ica l Artery A n e n c e p h a l y w i t h . . . A d r e n a l H y p o p l a s i a N o Deve lopmen ta l A n o m a l i e s in Pa r t s A v a i l a b l e F o r Examina t ion Imp: Turner 's S y n d r o m e - 45 , X 744.88 757.2 758.00 755.50 Pulmonary Artery H y p o p l a s i a Slight I U G R Pulmonary V a l v e A t r e s i a R Ventr icular Dilatat ion R Atrium Dilata t ion A S D , S e c u n d u m T y p e 1 P o s t e r i o r N u c h a l E d e m a R S i m i a n C r e a s e Imp: Down ' s S y n d r o m e Bi la tera l 5th Finger Cl inodac ty ly 759.7 748.58 Pulmonary V a l v e D y s p l a s i a , (no natural pathway) P N D of G a s t r o s c h i s i s not Conf i rmed Due to Fragmenta t ion Imp: M C A Pu lmonary A t r e s i a o f R Lung 762.28 762.60 752.48 746.88 762.8 759.24 753.88 762.28 754.00 E n c e p h a l o c e l e , ve r tex o f c ran ium Signif icant ly i n c r e a s e d A c e t y l C h o l i n e s t e r a s e & A F Alpha Fetoprote in P l a c e n t a Ext rachor ia l i s Part ial ly Te the red , focally edematous , short umbil ical c o r d L a b i a l Cleft S e r o s a l Hemor rhages , Ep ica rd ium Imp: A m n i o n Rupture S e q u e n c e S e r o s a l Hemor rhages , T h y m u s Di s t ended Bladder Min ima l S c o l i o s i s Ompha loce l e , conta ining L ive r , Smal l Intestine & R c o l o n P l a c e n t a wi th Amnio t ic B a n d s A s y m m e t r i c a l F a c i e s Significant D o r s a l S u b c u t a n e o u s E d e m a , H a n d s & Fee t Imp: Turner 's S y n d r o m e - 4 5 , X M i l d Axil lary P te ryg ia , Bi la te ra l Hepa tosp lenomega ly M i l d Choroamnion i t i s Incomplete Hor izonta l F i s s u r e Format ion of R Lung Aor t ic P reduc ta l Tubular H y p o p l a s i a Imp: Mult i factorial N T D N o Deve lopmen ta l A n o m a l i e s in parts ava i l ab le for examina t ion P N D of Lumbar M e n i n g o c e l e Not Conf i rmed D u e T o Fragmenta t ion P N D of Vent r icu lomegaly a n d pos s ib l e Arno ld Ch i a r i Maf fn not Conf i rmed D u e to Fragmenta t ion 754.01 Po t te r s F a c i e s 753.69 Dis ta l Urethral S t e n o s i s 753.88 ? M e g a c y s t i s 753.29 Hydroure te rnephros i s 788.5 Ol igour ia 754.73 Bi la tera l C lub F e e t 4 - 7 d a y s retent ion following IUD Appendix III Autopsy Findings 166 Method ofTA Amniotic EGA at Fluid Termination Narrow Code: D i a g n o s i s : Pu lmonary H y p o p l a s i a S * 3 749.22 5 * 3 753.16 5 * 3 747.5 5 * 3 751.23 5 * 3 757.8 5 * 3 751.23 5 * 3 749.22 5* 3 759.7 8 758.20 B 754.00 B 759.04 6 746.88 8 744.00 8 754.73 8 742.42 8 747.41 8 755.50 8 746.02 6 745.49 8 756.18 8 756.30 8 756.61 8 757.2 8 + 3 747.19 8 + 3 758.10 8 + 3 749.21 8 * 3 755.00 8 * 3 749.21 8 * 3 751.64 8 * 3 746.4 8 • 3 745.48 8 + 3 755.00 2- 13 wks, 79 days 758.00 2- 13 wks. 79 days 6 759.19 6 753.88 6 748.18 :6 605 762.28 744.24 754.01 759.24 754.01 753.00 759.04 743.63 764.9 762.20 762.28 760,0 Club Fee t S m a l l C y s t i c Structure R e s e m b l i n g a Kidney S ing le Umbi l ica l Artery V e s i c o r e c t a l F i s tu la Cubi ta l + Popl i tea l P te ryg ia Imperforate A n u s Cleft Pa la te Imp: M C A , cannot be sure of particular syndrome - A . R . Inheri tance Imp: T r i somy 18 S y n d r o m e D y s m o r p h i c F a c e wi th S m a l l Mandib le A c c e s s o r y S p l e e n P o l y v a v u l a r D y s p l a s i a o f T r i cusp id a n d Aor t ic V a l v e s Abnormal E a r s with Atret ic E a r C a n a l s Bi la tera l Club Fee t Bi la tera l C h o r o i d P lexus C y s t s Pers i s t en t L V e n a C a v a Bi la tera l 5th F inger C l inodac ty ly B i c u s p i d Pu lmonary V a l v e V S D Hemiver t eb rae , T h r o a c i c 11 R i b s L Diaphragmat ic H e m i a S i m i a n C r e a s e R H a n d C o a r c t a t i o n of A o r t a Imp: T r i s o m y 1 3 S y n d r o m e Bi la tera l Cleft Pa l a t e P o s t a x i a l Po lydac ty ly , L H a n d Bi la tera l Cleft L ip Di s t ended Gal lb ladder U n i c u s p i d Aor t ic V a l v e V S D , Pe r imembranous Hexadac ty ty , R H a n d Imp: Down ' s S y n d r o m e S c a n t F e t a l T i s s u e s Identified D i s c o i d A d r e n a l G l a n d s Hypop las t i c Bladder F la t tened N o s e P h i m o s i s Multiple F o c i o f Vi l lus C o n g e s t i o n L o w S e t Pos te r io r ly R o t a t e d E a r s W i z e n e d F a c e Multiple S e r o s a l P e t e c h i a e O v e r Ep ica rd ium of T h y m u s Pot ter ' s F a c i e s Bi la tera l R e n a l A g e n e s i s A c c e s s o r y S p l e e n X 2 Prominent Epican tha l F o l d s P r e a x i a l Po lydac ty ly - R H a n d N o Intact Internal O r g a n s F o u n d Imp: T r i somy 13 S y n d r o m e 1 D a y Re ten t ion following IUD B l o o d T i n g e d Per i tonea l Effusions B l o o d T i n g e d P leura l Effusions S e v e r e A s y m m e t r i c a l Intrauterine G r o w t h Retarda t ion S m a l l Marg ina l Vil lus Infarct S m a l l P l acen t a l D i sk Imp: Attributable to G e s t a t i o n a l Hyper t ens ion or H E L L P S y n d r o m e & C P M Tr i somy 18 Terminal ly A s s o c i a t e d Mult i focal P e t e c h i a l Hemor rhages , C e r e b r u m , Bra ins t em, Ce rebe l l um B l o o d T i n g e d Pe r i ca rd i a l Effusions 753,29 Bi la tera l Hydroure te r 753.88 Di la ta t ion of Bladder 753.16 B i la te ra l C y s t i c K i d n e y s 752.52 C ryp too rch id i sm 756.79 At tenuat ion of Abdomina l Muscu la tu re 756.72 Imp: Prune Belly S y n d r o m e or Urethral Obst ruc t ion wi th P o s t e r i o r Urethral V a l v e s 753.69 P o s s i b l e Urethral Obs t ruc t ion 756.79 Deficient Inferior Abdomina l W a l l 75123 A n a l A t r e s i a 762.68 Di la ted Umbi l ica l R i n g 752.68 A b s e n t Externa l Gen i t a l i a Appendix III Autopsy Findings 167 Method of TA Amniotic EGA at Fluid Termination Narrow D i a g n o s i s : Code: 753,29 756.71 C o l o v e s i c l e Fis tu la Internal Phal l ic Structure Segmen ta t ion Abnormal i tes involving L 3 and L 4 ve r t eb rae Urethral A t r e s i a Hydroure te r R s i d e Imp: Urethral Obs t ruc t ion S e q u e n c e (Prune Bel ly S e q u e n c e ) 21 • 1/2 21 • 1/2 21 * 1/2 21 * 1/2 747.0 753,32 753.29 759.11 756.08 746,3 756.08 750.27 746.88 747.10 748.51 789.5 511.9 776.5 744,24 745.51 L a r g e Ductus Ar te r iosus H o r s e s h o e Kidney R S i d e d Hydroure t emephros i s A d r e n a l H y p o p l a s i a M a r k e d Fronta l B l o s s i n g B i c u s p i d A s y m m e t r i c Aor t i c V a t v e D e e p N a s a l Br idge P u c k e r e d L i p s L a r g e Di la ted R Atrium Preduc ta l Nar rowing o f the Aor t ic A r c h Pu lmonary H y p o p l a s i a Abdomina l A s c i t e s Bi la tera l P leura l Effusions G e n e r a l i z e d E d e m a Bi la tera l C y s t i c H y g r o m a Imp: Turner 's S y n d r o m e D e e p Pa lpebra l F i s s u r e s Re ten t ion for a n unknown number o f d a y s L o w S e t E a r s L a r g e A S D , S e c u n d u m 20-21 20-21 20-21 20-21 764,9 M a r k e d I U G R 762.28 Sma l l , N o n c y s t i c P l a c e n t a 748.18 B e a k - L i k e N o s e 758.58 Imp: Triploidy 756.08 Re l a t i ve H e a d Spar ing 749.09 P o s t e r i o r Cleft Pa la te 524 0 Mic rogna th i a 755,oo 3/4 S y n d a c t y l y L H a n d 755.19 2 /3 S y n d a c t y l y , Fee t , Bilateral ly 759.11 A d r e n a l H y p o p l a s i a 748.51 Pu lmonary H y p o p l a s i a 744.24 L o w S e t E a r s 757.2 R S i d n e y C r e a s e , R H a n d N o Deve lopmen ta l Abnormal i t ies in Intact Pa r t s 758.00 Imp: D o w n ' s S y n d r o m e P N D of H y d r o p s not confirmed due to fragmentation P N D of C y s t i c H y g r o m a not confirmed due to fragmentation 762.28 Immature P l acen t a l T i s s u e 778,5 S u b c u t a n e o u s E d e m a 758,60 Imp: Turner ' s S y n d r o m e P N D of Vent r icu lomegaly not confirmed due to fragmentation 755.34 A p l a s i a Grea t T o e s 756 16 Hemiver tebrae L 2 / 3 742.26 S e m i l o b a r Ho lop rosencepha ly 748 69 L Lung Isomerism 751 72 Annular P a n c r e a s 759.04 S m a l l A c c e s s o r y S p l e e n s , (2 smal l sp leens) 745 51 A S D , S e c u n d u m T y p e 747 21 Aor t i c H y p o p l a s i a 74548 V S D , Pe r imembranous 755 50 A p l a s i a 5th R a y Bilateral ly H a n d s 751,24 A n a l A t r e s i a 756 15 T 4 / 5 F u s i o n 755.50 Short Termina l P h a l a n g e s 755 24 A p l a s i a Thumbs 748.18 Flat N a s a l Br idge 749.09 Pos t e r io r Cleft Pa la te 758 58 Imp: 4 6 , X X , - 13, + der(13) . t (12;13) 753 oo R e n a l H y p o p l a s i a N o Other Deve lopmen ta l Abnormal i t ies 746.1 D y s p l a s t i c T r i cusp id V a l v e 755.50 Bi la tera l 5th Finger Cl inodac ty ly 756,00 Imp; Down ' s S y n d r o m e - 47 , X Y , + 21 744.68 Min ima l N u c h a l Th icken ing * 6G.P.. 19 dates + 6G.P., 19 dates 746.6 745.63 E n d o c a r d i a l DiverticuD of Mitral V a l v e s F o r m Frus te of A V C a n a l Appendix III Autopsy Findings 1 6 8 Amniotic EGA at Fluid Termination Narrow D i a g n o s i s : Code: 15 - 6 G . P . . 19 dates 7 5 5 . 1 9 S y n d a c t y l y o f 3 rd & 4th F inger s , R H a n d 1 5 * 6 G P . . 19dates 758 .58 Imp: Triploidy 1 5 * 6 G P . . 19 dates 747 .26 D extra rotat ion o f A o r t a 15 * 6 G P . . 19 dates 746.1 E n d o c a r d i a l Divert icul i o f T r i cusp id V a l v e s 1 5 * 6 G . P . , 19 dates 759.11 Adrena l H y p o p l a s i a 15 + 6 G . P . . 19 dates 745.48 V S D , smal l per imembranous 23 * 1/2 23 * 1/2 23 + 1/2 23 + 1/2 23+ 1/2 23 * 1/2 23 + 1/2 755.20 A b s e n c e o f Uppe r L i m b s S e l e c t i v e Terminat ion by C o r d O c c l u s i o n Re ten t ion for 4 + 1/2 w e e k s 754 4i Short C u r v e d T ib ia 762 30 C h o r a n g i o p a g u s Pa ra s i t i cu s Twinning Anoma ly 762.30 Imp: T R A P - T w i n R e v e r s e d Ar ter ia l Pe r fus ion S e q u e n c e 755 34 A b n F e e t wi th 3 Abnorma l Digi ts , 2 of w h i c h appear long and na r row a n d 1 b roadened a n d pe rhaps fused 746.88 Pu lmonary V a l v e D y s p l a s i a 758.20 Imp: T r i s o m y 18 S y n d r o m e 755.50 Right 4th F inger Cl inodac ty ly 745 48 V S D , Pe r imembranous 755.50 Bi la tera l 5th F inger Cl inodac ty ly 748.51 Pu lmonary H y p o p l a s i a 762.8 Amnium N o d u s u m 754.59 Equ inova rus Deformity - L Foot 524.0 Mic rogna th i a - Ol igohydramnios S e q u e n c e 753.88 H y p o p l a s i a o f Urinary Bladder 75340 A b s e n c e o f Ure te r 753,16 C y s t i c D y s p l a s i a R K i d n e y 753 o i P robab le A g e n e s i s o f L Kidney 753 38 P e l v i c M a l p o s i t i o n R Kidney N o Deve lopmen ta l Abnormal i t ies in Intact Par t s 758 58 Imp: C P M , T r i somy 18 P N D of C y s t i c H y g r o m a not Identified Due to Fragmenta t ion 758 oo Imp: D o w n ' s S y n d r o m e 755 50 Bi la tera l 5th F inger Cl inodac ty ly 2 1 19(G.P). 21 (dates) 757,2 Probab ly Bi la tera l S i m i a n C r e a s e 2 1 19{G.P), 21 (dates) 753.32 H o r s e s h o e K i d n e y 2 1 19 (G.P.), 21 (dates) 748.58 S h a l l o w L e s s e r F i s s u r e R a n d Absen t G r e a t e r F i s s u r e L Lung 2 1 19 (GP.}, 21 (dates) 754.73 Club F e e t 2 1 19 (G.P.), 21 (dates) 759.08 Smal l S p l e e n 2 1 19 (G.P.). 21 (dates) 751.49 Malro ta t ion of Intestines 2 1 19(G.P.). 21 (dates) 748.51 H y p o p l a s i a of Lungs 2 1 19 (G.P.). 21 (dates) 740.02 A n e n c e p h a l y 2 1 19 (G.P.), 21 (dates) 759.11 H y p o p l a s i a of Adrena l s 2 4 22 748.51 H y p o p l a s i a o f Lungs 2 4 22 753.40 Urete r A g e n e s i s 2 4 22 753.80 Bladder A g e n e s i s 2 4 22 753.00 Bila tera l R e n a l A g e n e s i s 2 4 22 754.82 T h o r a c i c H y p o p l a s i a 2 4 22 759,24 Ear ly involut ion and C o n g e s t i o n of Thymus 2 4 22 762,28 Immature p lacenta with Mild Funis i t i s 2 4 22 S t o m a c h Presen t a n d Norma l 2 4 22 762.28 F o c a l D e c i d u a l N e c r o s i s 2 4 22 754.4 B o w i n g of Long Extremit ies 2 4 22 757.8 M i l d P te ryg ia of Uppe r Ext remi t ies 2 4 22 754.50 Bilateral Ta l ipes Equ inovarus 2 17*4 747.19 C o a r c t a t i o n of the A o r t a 2 17 * 4 746.3 B i c u s p i d Aor t ic V a l v e 2 17-4 747,41 Pers i s t en t L Supe r io r V e n a C a v a 2 17*4 753,32 H o r s e s h o e K i d n e y 2 17 + 4 758.60 Imp: Turner ' s S y n d r o m e 2 17 + 4 N o c y s t i c hygroma is identified ( P N D not confirmed) 34 16 + 5 752.48 Bifid Gen i t a l i a 34 16 + 5 746.1 D y s p l a s t i c T r i cusp id V a l v e s 34 16 + 5 754,73 Bila tera l Club Fee t 34 16 + 5 751.24 A n a l A t r e s i a 34 16 + 5 759,89 Imp: P o s s i b l e C l o a c a l E x s t r o p h y / O E I S S y n d r o m e 34 16 + 5 756,18 Abnorma l Ver tebra l C o l u m n 1 16 + 1/2 744.88 Flat F a c i e s 1 16 + 1/2 749,09 Pos te r io r Cleft Pa la te 2 t 16 + 1/2 748.51 S m a l l Lungs 2 1 16 * 1/2 228.1 C y s t i c H y g r o m a Appendix III Autopsy Findings 169 MetTiod Amniotic EGA at of TA Fluid Termination Narrow D i a g n o s i s : Code; 16* 1/3 16 * 1/2 778.0 Fe t a l H y d r o p s 756.43 ? G e n e r a l i z e d O s t e o c h o n d r a l D y s p l a s i a 746 os B i c u s p i d Pulmonary V a l v e 756.18 Hemive r t eb rae 753.40 A b s e n t Ure te r s 752.45 L a r g e Cl i to r i s 751 10 Duodena l A t r e s i a 758.19 Imp: R i n g 13 S y n d r o m e 748.58 Abnormal Lung Deve lopment 753 oo H y p o p l a s t i c K i d n e y s 751.24 Imperforate A n u s 755.19 S y n d a c t y l y T o e s a n d M e t a c a r p l e s 755.24 Absen t R Thumb & Hypop las t i c L Thumb 740.02 A n e n c e p h a l y (Meroc ran ia ) 758.58 Imp: Conf ined P l acen t a l M o s a i c i s m N o Deve lopmen ta l Abnormal i t ies P N D of Vent r icu lomegaly not confirmed due to Fragmenta t ion 758.20 Imp: T r i somy 18 S y n d r o m e N o Deve lopmen ta l Abnormal i t ies P N D of A b d . W a l l Defect not confirmed due to Fragmenta t ion 746 7 Imp: Hypop las t i c L Heart S y n d r o m e 746 7 Hypoplas t i c Left Heart N o other deve lopmenta l abnormal i t ies 740.02 F ragmen ted skull sugges t i ve o f A n e n c e p h a l y N o other deve lopmenta l abnormal i t ies Imp: Incomplete E x a m (Done in Seat t le) 755.34 A b s e n c e of R Grea t T o e 755.38 Congen i t a l A b s e n c e of R T ib ia 755.34 A b s e n c e of R 1st M e t a t a r s a l Imp: Mult i factorial N T D 740.02 A n e n c e p h a l y (Meroc ran ia ) 759.11 A d r e n a l H y p o p l a s i a 4 19(G.P.). 26 (dates) 755.50 Cl inodac ty ly of 5th F inger of L H a n d 4 19(G.P.). 26 (dates) 759.24 H y p o p l a s i a of Thymus 4 19(G.P). 26 (dates) 747.5 2 V e s s e l C o r d 4 19 (G.P.). 26 (dates) 789.9 Reten t ion C y s t L i n e d by S q u a m o u s Epithel ium, L o c a t e d be tween poster ior uterine wal l a n d rec tum 4 19{G.P.).26 (dates) 742.20 A s y m m e t r y o f C e r e b r a l H e m i s p h e r e s wi th Fa i lure of Deve lopment of D e e p C e r e b r a l nuclei 4 19 {G.P.J. 26 (dates) 748.51 H y p o p l a s i a o f Lungs 4 19(G.P.}, 26 (dates) 764.9 S e v e r e I U G R 4 19 {G.P.J, 26 (dates) 753.20 Hydroneph ros i s L S i d e 4 19{G.P.), 26 (dates) 753.29 Hydroure te r L S i d e 4 19 (G.P.J. 26 (dates) 754.70 Bila tera l Club F e e t 4 19 {G.P.J. 26 (dates) 758.58 Imp: Triploidy 4 19 {G.P.J. 26 (dates) 755.19 S y n d a c t y l y btwn 3rd + 4th F ingers , Bilateral ly 4 19{G.P.J. 26 (dates) 756.08 Rela t i ve M a c r o c e p h a l y 4 19 {G.P.J. 26 (dates) 524.0 M i c r o g n a t h i a 4 19 (G.P.). 26 (dates) 759.11 H y p o p l a s i a of Adrena l 4 19 (G.P.). 26 (dates) 753.00 H y p o p l a s i a of K i d n e y s 4 19(G.P.J. 26 (dates) 745.49 V S D 19 758.00 Imp: Down ' s S y n d r o m e 19 756.08 Flat N a s a l Bridge 19 756 08 Flat Occ ipu t 19 753.00 R e n a l H y p o p l a s i a 19 748.51 Pulmonary H y p o p l a s i a 19 745.63 A V C a n a l Defec t 19 755.50 Bila tera l 5th F inger Cl inodac ty ly 19 755.25 Shor ten ing of Uppe r L imbs 15* 1/2 (17 dates} 753.00 H y p o p l a s i a of Kidney 15+ 1/2 (17 dates) 751.62 H y p o p l a s i a of L ive r 15+ 1/2 (17 dates) 748.51 S e v e r e H y p o p l a s i a of Lungs 15+ 1/2 (17 dates} 749.10 Unila tera l L Cleft L ip 15+ 1/2 (17 dates) 756 49 Ske le t a l D y s p l a s i a Affect ing Main ly L o n g B o n e s 15+ 1/2 (17 dates) 228.1 C y s t i c H y g r o m a 15+ 1/2 (17 dates) 778.0 S e v e r e G e n e r a l i z e d Hydrops 10 758.00 Imp: D o w n ' s S y n d r o m e 10 P N D o f C y s t i c H y g r o m a not conf i rmed due to Fragmenta t ion 10 N o Deve lopmen ta l Abnormal i t ies 39109 Appendix III Autopsy Findings 170 Method Amniotic EGA at o( TA Fluid Termination Narrow D i a g n o s i s ; Coda: 757.2 Bi la tera l S i m i a n C r e a s e 755.50 Bi la tera l 5th F inger Cl inodac ty ly 745.68 Par t ia l Atr ioventr icular C a n a l Defec t - L a r g e Atrial Componen t , Smal le r Ventr icular Componen t 756.00 Imp: Down ' s S y n d r o m e - 4 7 , X Y , + 21 744 88 Flat F a c e 750.18 Protruding T o n g u e 514 B i c u s p i d Pu lmonary E d e m a 751.01 M e c k e l s Diver t iculum 745.58 A S D , Par t ia l 778.5 Diffuse S u b c u t a n e o u s E d e m a 755.50 W e b b i n g of H a n d s B e t w e e n Digits 758.20 Imp: Tr i somy 18 S y n d r o m e H e a d is d a m a g e d . 741.9 754.73 759,24 756.30 A d r e n a l H y p o p l a s i a Imp: Mult i factorial N T D A n e n c e p h a l y (holoacrania) C e r v i c a l R a c h t s c h i s i s Bi la tera l C lub Fee t T h y m i c Hype rp l a s i a Only 10 pa i r s o f ribs Pu lmonary H y p o p l a s i a 753.16 C y s t i c D y s p l a s i a of K i d n e y 752.9 Apparent C o l o v e s i c l e F u s i o n ( B o w e l a n d G e n i t a l S y s t e m s A p p e a r to E n d Blindly in B a c k of Urinary Bladder) 758.61 Imp: M o s a i c M o n o s o m y X & P o s s i b l e C loaca ) Abnormal i ty 745.50 F o r a m e n O v a l e 759,89 Fea tu res S u g g e s t i v e of C y c l o p i a 758 10 Imp: Tr i somy 1 3 S y n d r o m e 747 21 H y p o p l a s i a o f Aor t i c Isthmus 747 5 S ingle Umbi l ica l Artery P N D o f O m p h a l o c e l e a n d C N S not conf i rmed due to fragmentation 746.4 B i c u s p i d Aor t i c V a l v e 745 48 V S D , S m a l l Pe r imembranous Imp: Mult i factorial N T D 741.94 S a c r a l M e n i n g o c e l e 758.00 Imp: D o w n ' s S y n d r o m e 755.50 Bi la tera l 5th F inger Cl inodac ty ly 756.08 Flat Occ ipu t 751.01 M e c k e l ' s Divert iculum 758.00 Imp: D o w n ' s S y n d r o m e P N D of C y s t i c H y g r o m a not confirmed due to Fragmenta t ion 748 51 Pulmonary H y p o p l a s i a 745.51 A S D ( S e c u n d u m Type) 755.50 Bi la tera l 5th Finger Cl inodac ty ly 14 (GP.) 16 (dates) 14 (GP.) 16(dates) 14 (GP.) 16(dates) 14 (GP.) 16 (dates) 14 (G.P.) 16 (dates) 14 (G.P.) 16 (dates) S u s p e c t IUD, 2 w k s retention Di la ted Urinary Bladder Pox ima l Uppe r L imbs are Short , Shortent ing of L o n g B o n e s Short L o w e r L imbs s e e n Radio log ica l ly N o Spec i f i c D i a g n o s i s for Short L imbs Imp: M C A , N o Spec i f i c D i a g n o s i s 762.28 Imp: Pr imary P l acen t a l Abnormal i ty , Stillbirth 761.2 O l igohydramnios D y s m o r p h i s m 752.60 H y p o s p a d i a s 762.28 Hypop las t i c P l a c e n t a wi th Poo r ly D e v e l o p e d V e s s e l s 762.28 M a r k e d Ar the ros i s , P l a c e n t a 762,20 Infaction, P l a c e n t a 747.5 2 V e s s e l C o r d 762.7 Chor ioamnion i t i s 742 88 Bi la tera l G e r m i n a l E m i n e n c e Hemorrhage in B r a i n (Latera l Vent r ic les ) 764 9 I U G R 758.58 Imp: M o s a i c 4 6 , X Y , del (5), (p14.1) N o Deve lopmen ta l Abnormal i t i e s 7475 S ingle Umbi l ica l Ar te ry N o Othe r External ly Demons t rab le A n o m a l i e s 553.1 La rge O m p h a l o c e l e Con ta in ing L ive r , S m a l l B o w e l , S t o m a c h and S p l e e n 553.1 S m a l l O m p h a l o c e l e 755.51 Abnorma l C l e n c h i n g o f 4th & 5th F inge r s 755.00 Left P o s t a x i a l T a g Appendix III Autopsy Findings 171 Code Method AjnmotJC EGA at Narrow D iagnos i s : No: OITA Fluid Termi nation Code: 1 l 16 + 6 746.4 A s y m m e t r i c a l Dysp la s t i c B i c u s p i d Aor t ic V a l v e 1 1 16 * 6 758.12 Imp: 4 6 , X Y , - 14 , t (13q;14q) , t r i somy 13 39737 1 1 13 + 6 747.19 C o a r c t a t i o n o f A o r t a 1 1 13 + 6 758.61 Imp: 4 5 , X fetus / 4 6 , X , del(X)(p21) p lacenta 39788 1 4 16 753.88 Enla rged Ur inary B ladder 1 4 16 759.7 Imp: M C A , S u g g e s t i v e of C l o a c a l D y s g e n e s i s / Urorec ta l S e p t u m Malformat ion S e q u e n c e I 4 16 756.18 L u m b o s a c r a l S p i n a l A r c h Malformat ion 1 4 16 753.69 Urethral Obs t ruc t ion 1 4 16 754.73 Bila tera l C lub Fee t 1 4 16 751.23 A n a l / R e c t a l A g e n e s i s , P o s s i b l e R e c t o v e s i c a l communica t ion 39 794 1 1 16 * 1/2 759.04 A c c e s s o r y S p l e e n 1 1 16 • 1/2 744.81 M i c r o s t o m i a 1 1 16 + 1/2 751.01 M e c k e l s Diver t iculum 1 1 16 * 1/2 756.68 A g e n e s i s o f L Hemid iaphragm 1 1 16 * 1/2 746.7 Hypop las t i c L Hear t S y n d r o m e 1 1 16 - 1/2 756.08 Hypote lo r i sm 1 1 16 - 1/2 742.26 Aloba r H o l o p r o s e n c e p h a l y 1 1 16+ 1/2 758.58 Imp: Chr . 18 Dupl ica t ion De f i c i ency S y n d r o m e 1 1 16 + 1/2 742.25 C e b o c e p h a l y 1 1 16 + 1/2 748.18 Single Nost r i l 39819 4 3 14 • 5 759,7 Imp: M C A , N o Spec i f i c D i a g n o s i s 4 3 14 + 5 K i d n e y s w e r e not identified •> 3 14 • 5 N o Deve lopmen ta l A n o m a l i e s 39905 1 2 20 N o K i d n e y s o r Adrena l s Identified 1 2 20 N o Deve lopmen ta l Abnormal i t ies in Intact Pa r t s 1 2 20 759.7 Imp: I U G R a n d Ol igohydramnios due to pos s ib l e renal malformation 39930 1 1 16 553.1 Ompha loce l e 1 1 16 N o other Deve lopmen ta l Abnormal i t ies 1 1 16 747.5 Single Umbi l ica l Ar te r ies 39931 4 1 10+ 3(73 days) 753.16 Bilateral C y s t i c Dysp la s t i c K i d n e y s 4 1 10 * 3(73 days) 755.00 Polydac ty ly , Pos t A x i a l T a g L Hand 4 1 10+ 3(73 days) 755,01 Dupl ica ted Thumb R H a n d 4 1 10+ 3(73 days) 755.02 H e x a d a c t y l y R , L Fee t 4 1 10 + 3(73 days) 745.63 Large A V C a n a l Defect 4 t 10* 3(73 days) 746.1 Mildly Dysp la s t i c T r i cusp id V a l v e 4 1 10 + 3(73 days) 746 4 Mildly Dysp la s t i c Aor t ic V a l v e 4 1 10 * 3(73 days) 759.69 Imp: M C A , Diff. Dx . Elejalde S y n d r o m e or Po lydac ty ly Obs t ruc t ive Uropa thy 4 1 10 + 3(73 days) 746.08 Mildly Dysp la s t i c Pulmonary V a l v e 4 1 10 + 3(73 days) The structures of the neck a n d thorax cou ld not be a s s e s s e d . 39932 1 1 17 * 1 755.50 Bila tera l 5th F inger C l inodac ty ly 1 1 17* 1 747.25 Over r id ing A o r t a 1 1 17* 1 745 48 V S D , Large Pe r imembranous 1 1 17* 1 746.6 Mitra l Va tve , D iaphanous a n d Redundant 1 1 17+1 746,1 Tr i cusp id V a l v e , D iaphanous + Redundant 1 1 17* 1 746.08 Pulmonary A t r e s i a , Comple t e 1 1 17* 1 745.20 Tetra logy of Fallot 1 1 17* 1 758.58 Imp. 4 6 , X X , - 9 , +der(9), t (9;18)(p24;q21) 39942 2 1 19* 4 748.58 Incomplete F i s s u r e Format ion of R Lung 2 1 19* 4 744,24 L o w Se t E a r s 2 1 19 * 4 759.11 H y p o p l a s i a of Adrena l s 2 1 19-4 755,09 Bila tera l Hexadac ty ly of H a n d s 2 1 19* 4 756.08 B r o a d N a s a l Bridge 2 1 19 * 4 745.20 Tetra logy of Fallot 2 1 19 * 4 742.21 A b s e n c e of C o r p u s C a l l o s u m 2 1 19 * 4 758.56 Imp: 46 , X Y , der(10), t(7;10)(p21 :q13) 39955 2 1 15 - 12 756.34 Rib A n o m a l i e s 2 1 15+ 12 755,28 Shor t R A r m with Absen t R a n d i u s a n d R a d i a l R a y Anoma ly 2 1 15+ 12 748.58 Imcomplete Loba t ion R Lung 2 1 15 + 12 748.58 Imcomplete F i s su r ing Lungs 2 1 15 + 12 756.18 Butterfly S h a p e d V e r t e b r a e 2 1 15+ 12 762,8 Imp: Ear ly A m n i o n Rupture S e q u e n c e 2 1 15+ 12 744.88 Bila tera l P te rygium, Shor t N e c k 2 1 15 + 12 750.25 Abnorma l H a r d Pa la t e , Prominent A lveo l a r R idge , M e d i a l G r o o v e in H a r d Pa l a t e 2 1 15+ 12 748.18 Asymmet r ica l ly S h a p e d N a r e s 2 1 15 + 12 744,24 L o w S e t E a r s 2 I 15 + 12 740.01 A b s e n t C r a n i u m 2 1 15 + 12 755,34 Par t ia l Amputa tu ion o f R B i g T o e 2 1 15+ 12 756.15 Multiple D y s p l a s t i c T h o r a c i c Ver t eb rae 4O103 Appendix III Autopsy Findings Coda Method No ofTA Amniotic EGA at Fluid Termination Narrow D i a g n o s i s : Code: 751.10 Duodena l A t r e s i s 754.01 Po t te r s F a c e s 742.88 G e r m i n a l E m i n e n c e Hemorrhage 742.25 Po lymic rogyr i a 742 48 Hetero t rophic G r e y Mat t e r N o E v i d e n c e o f T o x o p l a s m o s i s 759 7 Imp: M C A 762 28 P l a c e n t a , C h a n g e s A s s o c i a t e d W i t h IUD, Fibr inoid Degene ra t ion of Ma te rna l V e s s e l s N o other Deve lopmen ta l Abnormal i t ies 748 51 Lung H y p o p l a s i a 758 58 Imp: 4 6 , X Y , del (14)(p32.1 -qter), IUD 7 d a y s retention 5 4 34 (G.P.) 4 25 (dates) 747.21 Hypop las t i c Aor t ic A r c h 5 4 34 (G.P.) 4 25 (dates) 756.79 A b s e n t Abdomina l W a l l M u s c u l a r 5 4 34 (G.P.) 4 25 (dates) 752.84 A b s e n t P ros t a t e 5 4 34 (G.P.) & 25 (dates) 744.24 L o w Se t D y s p l a s t i c E a r s 5 4 34 (G P.) S 25 (dates) 744.91 F a c i a l D y s m o r p h i s m 5 4 34 (G.P.) & 25 (dates) 759.89 Imp: Limb B o d y W a l l C o m p l e x 5 4 34 (G.P.) S 25 (dates) 751.24 Imperforate A n u s 5 4 34 (G.P.) 5 25 (dates) 753.29 Bila te ra l Hydroureter 5 4 34 (G.P.) S 25 (dates) 747.19 C o a r c t a t i o n of A o r t a 5 4 34 (G.P.) a 25 (dates) 753.16 Bila tera l C y s t i c K i d n e y s 5 4 34 (G.P.) a 25 (dates) 752.59 Absen t Urethra 5 4 34 (G.P.) a 25 (dates) 752 85 Absen t Defini t ive P e n i s 5 4 34 (G.P.) & 25 (dates) 747.5 2 V e s s e l C o r d 5 4 34 {G.P.) 4 25 (dates) 753.20 L Hydroneph ros i s 5 4 34 (G.P.) 4 25 (dates) 752.80 A b s e n t G o n a d s 5 4 34 (G P ) 4 25 (dates) 754.20 S e v e r e S c o l i o s i s 2 , 36 758.10 Imp: T r i s o m y 13 S y n d r o m e 2 1 36 749.20 L Cleft L ip 2 1 36 757.39 C u t i s A p l a s i a - S c a l p 2 1 36 743.1 Bila tera l Mic roop tha lmia 2 1 36 742.28 Absen t Olfactory L o b e 2 1 36 753.20 Bila te ra l Hydronephros i s 2 1 36 749.20 L Cleft Pa la te 2 1 36 745.51 A S D , S e c u n d u m T y p e 2 1 36 752.88 Ambiguous Gen i t a l i a 2 1 36 745.20 Tet ra logy o f Fallot Var ian t 2 1 36 553.1 O m p h a l o c e l e 2 1 36 742.48 C e r e b e l l a r He te ro top ias 2 1 36 751.01 M e c k e l s Diver t iculum 3 5 28 756.18 Segmen ta t ion A n o m a l i e s of S a c n . 3 5 28 747.5 Sing le Umbi l ica l Artery 3 5 28 745.20 Tet ra logy of Fallot 3 5 28 753.01 L R e n a l A g e n e s i s 3 5 28 755.24 Absen t Thumb, R H a n d 3 5 28 755.26 R a d i a l A p l a s i a 3 5 28 749.20 R Cleft Pa l a t e 3 5 28 749.20 R Cleft L ip 3 5 28 759.89 Imp: M C A , Diff. Dx . F a n c o n i ' s P a r 3 5 28 748.30 P o s t e r i o r L a r y n g e a l Cleft 4 ! 15 758.20 Imp: T r i somy 16 S y n d r o m e 4 1 15 746.88 Polyva lvu la r D y s p l a s i a 4 1 15 745.48 V S D , Pe r imembraneous 746.88 Po lyva lvu la r D y s p l a s i a 755 51 Over l app ing F ingers 2nd & 5th ove r 3 rd & 4th 758 20 Imp: T r i s o m y 18 S y n d r o m e 755 02 Po lydac ty ly & Ect rodac ty ly L Foot 755.50 Ol igodac ty ly or Ec t rodac ty ly with 3 digits L hand P N D of Ompha loce l e not confirmed due to fragmentation 759.7 Imp: M C A N o other Deve lopmen ta l Abnormal i t ies 740.02 D a m a g e d H e a d S u g g e s t i v e of A n e n c e p h a l y Imp: Mult i factorial N T D 758.60 Imp: Turner S y n d r o m e 778.5 D o r s a l E d e m a , H a n d s and F e e t 747.38 Hypop las t i c Pu lmonary Trunk 746 88 L Vent r i c le Hyper t rophy 746.00 Pu lmonary A t r e s i a 746.1 T r i cusp id D y s p l a s i a Appendix III Autopsy Findings 173 Method ofTA Amniotic EGA at Fluid Termination 18 • 1/2 16 * 1/2 16 * 1/2 16 * 1/2 16 * 1/2 16 * 1/2 16 • 1/2 Narrow D i agnos i s : Code: 746.88 R Atr ium Dilata t ion 746,2 Ebs te in ' s Anoma ly of the Hear t 16 + 1/2 16 * 1/2 17 • 1/2 17 • 1/2 17 + 1/2 17- 1/2 17 + 1/2 17 * 1/2 17 • 1/2 17 + 1/2 17 * 1/2 17 * 1/2 17 + 1/2 17 + 1/2 17 + 1/2 17 • 1/2 758.10 751.49 748.10 756.08 756.08 742.26 742.25 755.00 745.20 764.9 742.58 756.90 744,88 744.91 756.08 748.18 744.24 524.0 754.20 748,51 757.8 778.5 755.00 755.02 758.10 Imp: T r i somy 13 S y n d r o m e Mal ro ta t ion of Gut A b s e n t N o s e Midl ine Cleft ing Hypo te lo r i sm H o l o p r o s e n c e p h a l y C e b o c e p h a l y P o s t a x i a l Po lydac ty ly , H a n d s , Bi la tera l Te t ra logy of Fallot I U G R Per ivent r icu lar L e u k o m a l a c i a R e d u c e d M u s c l e Bulk, Al l Extremit ies Short N e c k C r a n i o f a c i a l D y s m o r p h i s m Hyper te lo r i sm, M i l d Flat N o s e L o w S e t D y s p l a s t i c E a r s Microre t rogna th ia Cleft Pa l a t e Border l ine I U G R S c o l i o s i s Pu lmonary H y p o p l a s i a Imp: Fe ta l A k i n e s i a S e q . consist 'nt c P e n a Shokie r , Mul t i . P te rygium, or Ar throgrypos i s Multiplex C o n g e n i t a Ar th rogrypos i s , G e n e r a l i z e d Mutiple P te ryg ia , Anter ior Axi l lae Antecubi ta l G e n e r a l i z e d E d e m a , Slight P o s t a x i a l T a g s - H a n d s Bi la tera l Hexadac ty ly - F e e t Imp: T r i somy 13 S y n d r o m e 753.16 745.59 Limb Pos i t i ona l Deformat ies (Ol igo. Seq . ) W i z e n e d F a c e s (Ol igohydramnios S e q u e n c e ) Bi la tera l G e r m i n a l E m i n e n c e Hemor rhage Mul t i cys t i c D y s p l a s t i c H o r s e s h o e K i d n e y A S D + 5 G.P.. 14 dates * 5 G.P., 14 dates N o other Deve lopmen ta l Abnormal i t i e s Imp: T r i s o m y 18 S y n d r o m e 2 4 24 (G.P.) 26 (dates) 762.8 A m n i o n N o d o s u m , Min ima l 2 4 24 (G.P.) 26 (dates) 762.28 D e c i d u a l N e c r o s i s , Dec idu i t i s a n d T h r o m b o s i s 2 4 24 (G.P.) 26 (dates) 748.51 Immature Lungs (Ol igohydramnios S e q u e n c e ) 2 4 24 (G.P.) 26 (dates) 752,86 Enla rged P e n i s 2 4 24 (G.P.) 26 (dates) 753,88 Urinary Bladder , s m o o t h a n d skele ta l musc l e hypop la s i a 2 4 24 (G.P.) 26 (dates) 753.88 Bladder Di la t ion 2 4 24 (G.P.) 26 (dates) 753,29 Hydroure te r 2 4 24 (G.P.) 26 (dates) 753,16 C y s t i c D y s p l a s i a of K i d n e y s 2 24 (G.P.) 26 (dates) 752.88 Pros ta t i c A p l a s i a wi th Patent Urethra 2 2 21 • 1/2 753.79 Hypop las t i c U r a c h a l B ladder 2 2 21 * 1/2 754.73 Bila tera l C lub F e e t 2 2 21 • 1/2 754,01 M i l d Po t te r s F a c i e s 2 2 21 * 1/2 753.00 Bila tera l R e n a l A g e n e s i s 2 , 24 748.58 Bila tera l B i - L o b e d Lungs 2 1 24 759.30 Dext roca rd ia 2 1 24 746.88 Jux tapos i t ion o f Atr ia l A p p e n d a g e s 2 1 24 747,48 Bila tera l V e n a e C a v a e 2 1 24 759.39 Si tus Inversus - S t o m a c h a n d S p l e e n Right S i d e d 2 1 24 751.49 Malro ta t ion of B o w e l 2 1 24 759,11 A d r e n a l H y p o p l a s i a 2 1 24 753,29 Hydroure te rs , M i l d , Bi la tera l 2 1 24 746.00 A t r e s i a of Pulmonic V a l v e 2 1 24 745 48 V S D , M u s c u l a r 2 1 24 745.1 H y p o p l a s i a + D y s p l a s i a of Tr icusp id V a l v e s 2 1 24 746.88 H y p o p l a s i a of R Vent r ic le 2 1 24 747,0 R Ductus Ar te r iosus 2 1 24 745.51 A S D , S e c u n d u m 2 1 24 759,7 Imp: P o s s i b l y Hydrole thalus , M C A 2 1 24 742,39 H y d r o c e p h a l u s 2 1 24 745.10 Transpos i t i on of Grt . V e s s e l s 2 1 24 747.23 R Aor t ic A r c h P N D of Po lydac ty ly not confirmed due to mild frag, o f pos tax ia l a s p e c t of H a n d s Appendix III Autopsy Findings 174 Method Arnniooe EGA at of TA Fluid Termination Narrow D i a g n o s i s : Code: 758.10 759.89 756.08 741.98 747.5 Imp: T r i somy 13 S y n d r o m e C y c l o p i a P r o b o s c i s L u m b o s a c r a l S p i n a Bif ida S ing le Umbi l ica l Artery 758,10 749,09 Bila tera l Ctub Foo t C N S Not A s s e s s a b l e Imp: S u g g e s t i v e of T r i somy 13 S y n d r o m e Cleft Pa l a t e P N D o f U / S findings not conf i rmed due to fragmentat ion 759.7 Imp: M C A 749.20 R Cleft Pa l a t e 747.19 C o a r c t a t i o n o f Aor ta 747.21 Tubular H y p o p l a s i a o f Aor t ic Isthmus 749.20 R Cleft L ip 75122 Bl ind End ing C o l o n 752.48 Prominent Phal l ic S t ruc tures 756.34 Bifid L o w e r T h o r a c i c R ib - Bi la tera l 754.59 Bi la tera l Equ inova rus Foo t Deformat ies 759.18 F u s e d Adrena l G l a n d s 75241 Vag ina l A t r e s i a 751,23 A n a l A t r e s i a 753.69 Urethral A t r e s i a 753.29 M e g a l o c y s t i s with Bi la tera l Hydroure te r 759.89 Imp: C l o a c a l D y s g e n e s i s S e q u e n c e 19* 1/2 19 * 1/2 757.2 Bi la tera l S i m i a n C r e a s e 759.7 Imp: M C A , Spec i f i c Et iology Is Not K n o w n 754.76 D o r s a l F l ex ion , L Foot 742.39 Th in C e r e b r a l C o r t e x Cons i s t en t W i t h Vent r icu lomegaly 754,78 Bi la tera l P r o m i n e n c e of H e e l s 753,20 758,50 P N D of C l u b b e d Fee t not conf i rmed due to fragmentation Dorsa l ipeda l E d e m a P N D of C y s t i c H y g r o m a not conf i rmed due to fragmentation Hydroneph ros i s Imp: Turners S y n d r o m e 744 88 Shor t N e c k 744,24 L o w S e t E a r s 758.20 Imp: T r i s o m y 18 S y n d r o m e 751 49 M a l p o s i t i o n o f Append ix 755.51 F l ex ion wi th Over l app ing F inge r s 750.28 S m a l l M o u t h 553.1 P o s s i b l e S m a l l O m p h a l o c e l e 751.01 M e c k e l s Diver t iculum 746.88 Po lyva lvu la r D y s p l a s i a 746.08 B i c u s p i d Pu lmonic V a t v e 746.6 D y s p l a s i a o f Mit ra l Va tve 746 4 D y s p l a s i a o f Aor t ic Va tve 746.1 D y s p l a s i a o f T r i cusp id V a t v e 745.48 V S D , Pe r imembranous 746.88 Hyper t rophy R Vent r ic le 746.88 Hyper t rophy R Atrium 524.0 M i c r o g n a t h i a 756.08 Fronta l B o s s i n g 754.82 N a r r o w C h e s t 743 1 M i c r o p h t h a l m i a 755.50 758.70 Sing le P a l m a r C r e a s e N o other Deve lopmen ta l Abnormal i t i e s M i l d Bi la tera l 5th F inger C l inodac ty ly Imp: Klienfel ters S y n d r o m e Imp: P o s s i b l e C h r o m o s o m e Anoma ly 747 5 S ingle Umbi l ica l Artery 751 ot M e c k e l ' s Diver t iculum P N D not conf i rmed due to fragmentat ion 758.00 755.50 S i m i a n C r e a s e , R H a n d S c a n t O r g a n s found a re submit ted for His to logy N o Abnormal i t i e s a re F o u n d in the Intact Par t s Imp: D o w n ' s S y n d r o m e 5th F inger C l inodac ty ly R H a n d P N D o f Diaphragmat ic H e m i a not conf i rmed due to Fragmenta t ion Appendix III Autopsy Findings Method o(TA Amniotic EGA at Fluid Termination Narrow D i a g n o s i s : Coda: 745.20 Te t ra logy o f Fallot 755.51 A b n F inger F l ex ion , L hand 755.02 P o l y s y n d a c t y l y R 5th T o e 758.10 Imp: T r i somy 13 S y n d r o m e 755 oo Pos tax ia t Po lydac ty ly L Hand 748.51 755.19 A b s e n t H ippocampus wi th Migra t ion Diso rde r Fronta l B l o s s i n g wi th L a r g e Skul l Sh ro r t ened P rox ima l Por t ions o f Uppe r a n d L o w e r L imbs ? D i s o r d e r e d Oss i f i ca t i on H y p o s p a d i a s Pu lmonic H y p o p l a s i a with a N a r r o w C h e s t Bi la tera l Syndac ty ly , R & L H a n d s 759.11 H y p o p l a s i a of A d r e n a l G l a n d s 758 58 Imp: Digyn ic Triploidy 755.08 H e a d Dispropor t ionate ly Large 754 88 Sh runken Trunk 755.08 Hyper te lo r i sm 748.18 Po in t ed T ip o f N o s e 750 28 Shor t Phittrum 755.19 S y n d a c t y l y of T o e s , L - 1 , 2, 3, 4, R - all t oe s 753.00 Hypop las t i c K i d n e y s 511.9 Bi la tera l P leura l Effusions 748.58 A b n . Loba t ion of Lungs 762.28 P l a c e n t a S m a l l for G e s t a t i o n a l A g e 755.19 S y n d a c t y l y o f F inger s , L - 2nd S 3rd , R - 2nd , 3rd , & 4th 778.0 Imp: Non- immune H y d r o p s Fe ta l i s 755.52 W r i s t s are N a r r o w 755.62 A n k l e s are N a r r o w 755.64 Va lgus Deformat iy , K n e e s 757.2 Longi tudinal S k i n C r e a s e L A r m 757.8 Antecubi ta l P te ryg ia 755.50 S m a l l Thumbs 755.50 F inger W e b b i n g 511.9 L a r g e P leura l Effusions 778.0 Hydrops Fe ta l i s , S e v e r e E x t e n s i v e 764.9 I U G R 762.28 P l a c e n t a - Vil lus E d e m a 744 24 L o w Se t E a r s 756.08 Flat N a s a l Br idge 755 51 F la t tened a n d B r o a d Dysmorph ic H a n d s 754 78 F la t tened a n d B r o a d D y s m o r p h i c Fee t 744 91 Ant imongoida l Slant , E y e s 755.08 B o s s e d F o r e h e a d 762 8 Funis i t i s , ear ly 762 7 Chor ioamnion i t i s 753 38 Ante r io r Ro ta t ion o f Hilum, R Kidney 748 51 Pu lmonary H y p o p l a s i a 748 18 S ing le N a s a l C h o a n a , patent 746.88 En la rged , Di la ted R Atr ium 745 51 A S D , s e c u n d u m 742.26 H o l o p r o s e n c e p h a l y wi th old infarct ion m i c r o s c o p i c in a r e a adjacent to thalamus 762.20 A r e a o f Infarction invorving 1 0 % o f P l acen t a l P a r e n c h y m a 762 28 A b n P l a c e n t a wi th G r e e n Di sco lo ra t i on o f M e m b r a n e s 742.1 M i c r o c e p h a l y 744 88 Shor t N e c k 758 10 Imp: T r i s o m y 13 S y n d r o m e Re ten t ion for > 1 wk 755.00 Bi la tera l , P o s t a x i a l Po lydac ty ly , H a n d s 756.08 Hypo te lo r i sm 754.78 Prominent H e e l P a d s 744.24 L o w S e t E a r s 764.9 758.20 768.0 758,29 757.68 756.02 741.01 749,20 553.1 L o w - P l a c e d P i n n a e I U G R Imp: T r i s o m y 18 S y n d r o m e Intrauterine Fe t a l D i s t r e s s , A c u t e InterviDus Hemor rhages , P l a c e n t a C h r . A n a l y s i s , C h o r i o n 4 7 , X Y , + 18, Cytot rophoblas t 2 0 0 - 3 0 % Diploid , 7 0 - 8 0 % Triplold W i d e l y P l a c e d Nipples Hyper te lo r i sm B e a k i n g o f the T e c t u m Left Cleft L ip O m p h a l o c e l e , ruptured Left Cleft Pa l a t e C a r d i a c A n o m a l i e s - Dr. T a y l o r d i s s e c t i o n . . . M e n i n g o c e l e a n d Ch ia r i T y p e II Mal format ion Appendix III Autopsy Findings 176 Method Amniotic EGA at ofTA Fluid Terminal) on Narrow D i a g n o s i s : Code: 751.49 Intestinal Mal ro ta t ion 768.0 Intrauterine Fe t a l D i s t r e s s , Asp i ra t ion Amnio t i c Fluid S q u a l m e s , Lung 756.08 L a r g e Ante r io r Fontanel le 759.11 Hypop las t i c Adrena l G l a n d 751.78 F u s i o n P a n c r e a t i c Ta le and S p l e e n 753.32 H o r s e s h o e Kidney 754.50 Equ inovarus A n o m a l i e s , L e g s 755.51 Over l app ing Digi ts , H a n d s 12* 2 12 • 2 12-2 12 * 2 12 * 2 12 + 2 12 + 2 12 + 2 12+ 2 12 + 2 12 + 2 12 + 2 755 01 P r e a x i a l T a g s , Bi la tera l , H a n d s 746 88 Po lyva lvu la r D y s p l a s i a 745.49 V S D 746.6 Mi t ra l A t r e s i a 747.23 R Aor t ic A r c h 747.21 Tubular H y p o p l a s i a of Aor t ic A r c h 747 4i Pe rs i s t en t L V e n a C a v a 753.88 Di la ted B ladder 755.26 R a d i a l A g e n e s i s 7475 2 V e s s e l C o r d 758 20 Imp: T r i s o m y 18 S y n d r o m e P N D o f C y s t i c H y g r o m a not conf i rmed due to Fragmenta t ion 12 - 1/2 12 * 1/2 747.5 2 V e s s e l C o r d 755.50 Uni la tera l 5th F inger Cl inodac ty ly 745.48 V S D , small pe r imembranous 747.21 P reduc ta l Tubular H y p o p l a s i a of the A o r t a B e c a u s e of the s e v e r e damage the c e r v i c a l region o f the fetus cannot be examined . Imp: D o w n ' s S y n d r o m e Incomplete Au topsy ( L e g Only) 22 - 23 wks 22- 23 wks 22 - 23 wks P N D o f H y d r o c e p h a l u s not conf i rmed due to fragmentation Imp: Mult i factorial N T D L u m b o s a c r a l M e n i n g o c e l e N o Deve lopmen ta l Abnormal i t ies 758.00 Imp: D o w n ' s S y n d r o m e 749 21 Bi la tera l Cleft L ip 743 48 Bi la tera l Per ipapi l lary C o l o b o m a t a 749 21 Bi la tera l Cleft Pa la te 759.7 Imp: M C A P N D of Ho lop rosencepha ly Not Conf i rmed Due T o Fragmenta t ion 758.00 Imp: D o w n ' s S y n d r o m e 748 51 Pu lmonary H y p o p l a s i a 754.50 Bi la tera l Equ inova rus Deformat ies of F e e t 755.50 Bi la tera l 5th F inger C l inodac ty ly 553.1 O m p h a l o c e l e S a c Identified N o other Deve lopmen ta l Abnormal i t i e s 746.01 747.26 756.18 753.00 755.50 748.51 745 49 R Vent r icu la r Hyper t rophy Pu lmonic S t e n o s i s Overr id ing A o r t a Hemi ver tebrae Bi la tera l R e n a l A g e n e s i s Cl inodac ty ly Pu lmonary H y p o p l a s i a V S D P N D of vent r iculomegaly not confirmed due to fragmentation Imp: Unexp l a ined IUD 762.68 L o n g Hyrt l A n a s t o m o s i s of Umbi l ica l C o r d 758.00 Imp: D o w n ' s S y n d r o m e 756.08 Flat Occ ipu t 757.2 Bi la tera l S i m i a n C r e a s e 748.51 M i l d Pu lmonary H y p o p l a s i a by W e i g h t 755.50 Bi la tera l 5th F inger C l inodac ty ly 759.7 Imp: Deve lopmen ta l F i e ld Defec t Involving the C a u d a l B l a s t o m a of the E m b r y o P N D o f C y s t i c H y g r o m a Not Conf i rmed due to fragmentation 778.5 M i l d E d e m a o n D o r s u m o f F e e t 753.16 C y s t i c K idney , Right S i d e 751.24 A n a l A t r e s i a 745.48 746.6 V S D , L a r g e Subaor t i c Mit ra l Va tve A t r e s i a Appendix III Autopsy Findings 177 EGA at Narrow Diagnos i s : Termination Code: 15 • 2 746.1 D y s p l a s t i c T r i cusp id V a l v e 15 * 2 746.88 Hypop las t i c L Vent r i c le 15 * 2 747.41 Pers i s ten t I Supe r io r V e n a C a v a 15 - 2 746.4 D y s p l a s t i c Aor t ic Varve 15* 2 746.01 Subpulmonic S t e n o s i s 15-2 758.29 Imp: 4 6 , X X , idic(18)(p11.3) 15 • 2 745.11 Double Outlet R Vent r ic le 15 * 2 747.5 2 V e s s e l C o r d 20-21 762.8 Placen ta l M e m b r a n e s A t t a c h e d Direct ly to the Skull 20-21 740.02 A p p e a r a n c e o f Fe tu s w a s S imi la r to that o f a n A n e n c e p h a l i c Fe tus 20-21 756.08 A s y m m e t r i c L F a c i a l Cleft 20-21 759.11 A d r e n a l G l a n d H y p o p l a s i a 20-21 755.24 Amputat ion of 3rd F inger 20-21 762.8 Imp: A m n i o n Disrupt ion S e q u e n c e 16 • 5 752.88 Bifid Externa l Gen i t a l i a 16 + 5 753 88 Hemib ladders 16 + 5 553.1 L a r g e O m p h a l o c e l e 16 + 5 751.24 A n a l A t r e s i a 16 + 5 762.60 Shor t Umbi l ica l C o r d 16 + 5 754.20 S c o l i o s i s 16 + 5 759.89 P o s s i b l y O E I S - O m p h a l o c e l e , Exs t rophy , Imperforate A n u s and S p i n a Bif ida 16-5 753.20 Dila ted R e n a l P e l v i s L K i d n e y 16 * 5 747.5 Sing le Umbi l ica l Artery 16 + 5 751.88 Interposition o f C o l o n i c M u c o s a 13-3 553.1 O m p h a l o c e l e 13 + 3 758.10 Imp: T r i somy 13 S y n d r o m e 13 - 3 749.20 Right Cleft L ip 13 + 3 749.20 Right Cleft Pa l a t e 17 • 1 P N D o f C y s t i c H y g r o m a not confirmed due to fragmentation 17 + 1 755.19 Ect rodac ty ly - 2/3 Syndac ty ly , L H a n d 17+ 1 755.24 Imp: M a y Represen t Ec te rodac ty ly Ec tode rma l D y s p l a s i a / C L / C P / S y n d r o m e 17 + 1 N o other Deve lopmen ta l Abnormal i t ies 17+ 1 755.24 M i s s i n g 3rd Digit R H a n d 28 G.P. 32-33 dates 746.88 Antena ta l Obs t ruc t ion of F o r a m e n O v a l e 28 G.P. 32-33 dates 747.5 Sing le Umbi l ica l Artery 28 G.P. 32-33 dates 762.28 M e c o n i u m Pigmenta t ion , H i s t o c y t e s , P l acen t a l M e m b r a n e s , indicat ive o f fetal s t r e s s 28 G.P. 32-33 dates 746.7 Imp: Hypop las t i c L Hear t S y n d r o m e 2B G.P 32-33 dates 747.19 C o a r c t a t i o n o f Aor ta 28 G.P. 32-33 dates 746.88 H y p o p l a s i a of Left Vent r ic le 28 G.P. 32-33 dates 746 4 B i c u s p i d Aor t ic V a l v e 28 G P. 32-33 dales 746.88 H y p o p l a s i a of Left Atrium 28 G.P. 32-33 dates 746.6 A t r e s i a o f Mit ra l Varve 28 G.P. 32-33 dates 745.48 V S D , M u s c u l a r 28 G.P. 32-33 dates 745.48 V S D , Pe r imembranous 17 753.00 Bila tera l R e n a l A g e n e s i s , no renal t i s sue identified 17 745.48 V S D , Pe r imembranous 18 • 1 755.88 ? G e n e r a l i z e d D e c r e a s e d Oss i f i ca t i on 18 + 1 755.88 Multiple F rac tu res a n d Deformat ies of L o n g B o n e s 18 • 1 756.88 1 Abnorma l P r o c o l l a g e n S tud ies Cons i s t en t with O.I. (likely type II) 18 + 1 756 34 Multiple F rac tu res a n d Deformat ies of R i b s 19 758.70 4 7 , X X Y S y n d r o m e (Klinefelters Syndrome) 19 755.50 Bila tera l 5th Finger Cl inodac ty ly 18 + 5 758.00 Imp; Down ' s S y n d r o m e 18 + 5 755.50 Bila tera l 5th F inger Cl inodac ty ly 18*5 757.2 L S i m i a n C r e a s e 18 744.88 M i l d N u c h a l E d e m a 18 756.08 Flat Occ ipu t 18 758.00 Imp: D o w n ' s S y n d r o m e 18 753.20 M i l d Dila ta t ion o f R e n a l P e l v e s 18 755.50 Bila tera l 5th F inger C l inodac ty ly 18 757.2 Bila tera l S i m i a n C r e a s e s 20 + 2 741.03 H y d r o c e p h a l u s 20 + 2 754.50 T a l i p e s Equ inova rus 20 * 2 D a n d y W a l k e r Malformat ion Not F o u n d 20 + 2 Imp: Mult i factorial N T D 20 + 2 741.01 Chia r i T y p e II Mal format ions 20 • 2 741.01 M e n i n g o c l e , T h o r a c o - L u m b a r 41214 Appendix III Autopsy Findings 178 Method Amniotic EGA at of TA Fluid Termination Narrow D i a g n o s i s : Code: P N D of C y s t i c H y g r o m a not confirmed due to fragmentation 758.00 Imp: Down ' s S y n d r o m e 778.5 M i l d E d e m a 757.2 Bi la tera l S i m i a n C r e a s e 755.50 Bi la tera l 5th F inger Cl inodac ty ly 758.00 Imp: D o w n ' s S y n d r o m e 15+ 2 15+ 2 15+ 2 15+ 2 15+ 2 15+ 2 15+ 2 15' 2 '15+ 2 15* 2 755.58 Hypop las t i c C l a v i c l e s 7578 Multiple P te ryg ia in Axi l l a , Ant icubi ta l , Popl i tea l & N e c k A r e a 749.09 Cleft Pa l a t e 742.58 ? D imye l i a (probable) 755.19 Soft T i s s u e Syndac ty ly all T o e s 755,19 Soft T i s s u e Syndac ty ly all F ingers 226 i Pos t e r io r C e r v i c a l H y g r o m a 764 9 I U G R 759,89 Imp: Multiple P te ryg ium S y n d r o m e 748.58 Incomplete F i s s u r e Format ion o n Bo th Lungs N o Deve lopmen ta l Abnormal i t ies P N D o f H y d r o p s not confirmed 778.0 Imp: Fe t a l Hydrops , Spec i f i c Et io logy Not Identified, ( 1 0 % R . R . ) 778.0 Imp: Fe t a l Hydrops , Spec i f i c Et iology Not Identified, ( 1 0 % R . R . ) P N D not conf i rmed due to fragmentation 22-23 22-23 22-23 22-23 22-23 22-23 762.8 Imp: A m n i o n Disrupt ion S e q u e n c e 742 48 A s y m m e t r y of Tentor ium Cerebe l l i 742,48 A b s e n c e of Fabt C e r e b r i 743 8 L E y e not F o r m e d in the F a c e 748.18 S ing le Nost r i l 750.28 3 Clef ts in the M o u t h a n d a G r o v e in the Pa la te wi th one of the Left Clefts 755.50 Bi la tera l 5th F inger C l inodac ty ly 759.7 Imp: M C A with Distant Consangu in i ty 754.73 Bi la tera l C lubbed F e e t 553.1 Ompha loce l e , L a r g e 755.50 C l inodac ty ly o f 5th Finger , Bi la tera l 751.49 Mal ro ta t ion of Smal l B o w e l 17* 1/2 17 + 1/2 17 * 1/2 17 + 1/2 17 + 1/2 17 + 1/2 17 + 1/2 17 + 1/2 17 + 1/2 757.8 755.50 747,21 747,5 553,1 748.58 748.51 A n e n c e p h a l y C r a n i o r a c h i s c h i s i s , Fai lure of C l o s u r e 2,4 and 1 C e r v i c a l Ret rof lexion P te ryg ia - Anter ior , Axi l l iary , Inguinal 5th Finger C l inodac ty ly , Bi la tera l Tubular H y p o p l a s i a of Aor t i c A r c h Single Umbi l ica l Artery O m p h a l o c e l e Abnorma l Loba t ion o f Lungs Pulmonary H y p o p l a s i a Imp: Mult i factorial N T D 758.61 G e n e r a l i z e d M o s a i c i s m Involving Fe tu s a n d P l a c e n t a 747.21 M i l d P reduc ta l Tubular H y p o p l a s i a o f Aor ta 758.61 Imp: M o s a i c Turner 's S y n d r o m e N o Deve lopmenta l A n o m a l i e s in Par t s Ava i l ab le Imp: U / S Identified M C A , R / O B a l a n c e d Chr . T rans loca t ion In Paren t s 762.28 C i rcumva l l a t e P l a c e n t a N o Deve lopmen ta l Abnormal i t ies P N D of G a s t r o s c h i s i s not confirmed due to fragmentation 741.01 741,01 754.59 741.01 L a r g e M e n i n g o m y e l o c e l e ( thoracic to sacra l ) Chia r i It Mal format ion Imp: Mult i factorial N T D V a r u s Deformity of F e e t Vent r icu lomegaly 741.03 742.52 741.03 H y d r o c e p h a l u s D ia s t ema tomye l i a Thora c o - L u m b a r N T D Imp: Mult i factorial N T D Arena l H y p o p l a s i a D i s c o r d a n c e B e t w e e n H e a d and Trunk Asymmet r i c Growth Re ta rda t ion Pu lmonary H y p o p l a s i a Appendix III Autopsy Findings 179 Code Method Amniotic EGA at No: of TA Fluid Termination Narrow D i a g n o s i s : Code: Mildly D y s m o r p h i c F a c e - Prominent N o s e , R e c e s s e d Mandib le Imp: S e v e r e Ol igohyd . & Growth Retarda t ion with no c a u s e found 758.00 Imp: Down ' s S y d r o m e 757.2 Bi la tera l S i m i a n C r e a s e 745 20 Tet ra logy o f Fallot 74549 V S D 746.02 Pu lmanoary V a t v e D i s c o r d a n c e 758.00 Imp: Twin A D o w n s Syndrome , Twin B Norma l - S p o n t a n e o u s L o s s of Twin B 755.50 M i l d 5th Finger Cl inodac ty ly - Twin A 771,29 Mul t i focal Bac t e r i a l Prol i ferat ion, G r a m P o s . C o c c i - Twin A 762,52 T rue Knot in Umbi l ica l C o r d - T w i n B 771.29 A s c e n d i n g Infection - T w i n B 771.29 Fe t a l Vascu l i t i s P l acen t a l Su r f ace , G r a m N e g . - T w i n B 753,88 752.48 753.00 752.19 Hypop las t i c Bladder Aplas t i c Upper V a g i n a Hypop las t i c Ure ters Abnorma l E longa te O v a r i e s Bi la tera l R e n a l A g e n e s i s Hypop las t i c Fa l lop ian T u b e s 755.51 Bi la tera l Camptodac ty ly , 2nd & 5th over lapping 3rd & 4th N o other Deve lopmen ta l Abnormal i t ies P N D o f Diaphragmat ic H e m i a not conf i rmed due to fragmentat ion 746.6 Mi t ra l V a l v e A t r e s i a 749.09 Bi la tera l Cleft Pa l a t e 745.11 Double Outlet R Vent r ic le 746.01 Pulmonary V a l v e S t e n o s i s 745 49 V S D 746.88 Hypop las t i c L Vent r ic le 759 89 Imp: S u g g e s t i v e o f V e l o c a r d i o - F a c i a l S y n d r o m e or D i G e o r g e S y n d r o m e 746 4 H y p o p l a s i a o f Aor t i c Artery 758,60 Imp: Turner S y n d r o m e , S p . V a g . D e l . ( D & E Planned) 746 88 Hypop las t i c L Vent r i c le 753 32 H o r s e s h o e K i d n e y 748.51 Pu lmonary H y p o p l a s i a 511.9 Bi la tera l P leura l Effus ions 747.21 Hypop las t i c Aor t i c A r c h 778.5 G e n e r a l i z e d E d e m a 778 o H y d r o p s Fe ta l i s 228.1 C y s t i c H y g r o m a 778,o A s c i t e s 751.49 Mal ro ta t ion of the G l S y s t e m 755.51 Bi la tera l 2 F inger Over lapp ing - 3 rd & 5th over lapping 4th 741.01 H y d r o c e p h a l u s 741.01 S a c r o m e n i n g o m y e l o c e l e 741.01 Ch ia r i II Matformation 755.88 Short Uppe r and L o w e r L i m b s 756.79 Protuberant A b d o m e n 754,82 N a r r o w C h e s t 756.0B L a r g e H e a d Disp lay ing Frontal B l o s s i n g 756.34 S h o r t e n e d R i b s 754 4 B o w i n g of F e m u s , Rad i i a n d Ulnae 745 6 Mi t ra l Va tve A t r e s i a 745 48 V S D , Subaor t i c 758 10 Imp: Tr i somy 13 S y n d r o m e 757 3i R hand P o s t a x i a l S k i n T a g 746.88 Cortr ia t r ia tum Sin i s te r 745.11 Double Outlet R Vent r ic le 753 34 K i d n e y s and Adrena l s are L a r g e by W e i g h t 3 17 2. (19 + 4 dates) 746,02 Q u a d r i c u s p i d Pu lmonary Va tve 3 17 2. (19 + 4 dates) 764.9 I U G R 3 17 2. (19 + 4 dates) 759.11 A d r e n a l H y p o p l a s i a 3 17 2. (19 + 4 dates) 758.58 Imp: Triploidy 3 17 2.(19 + 4 dates) 745.49 A S D 3 17 2.(19 + 4 dates) 744.91 D y s m o r p h i c F a c i a l F e a t u r e s 3 17 2.(19 + 4 dates) 748.51 Pulmonary H y p o p l a s i a 3 17 2. (19 * 4 dates) 753.32 R e n a l Ex top ia of H o r s e s h o e K i d n e y 3 17 2. (19 * 4 dates} 753.00 R e n a l H y p o p l a s i a 3 17 2. (19 + 4 dates) 755.50 Bilateral Dysmorph ic F ingers 3 17 2.(19 + 4 dates) 746,6 Mitra l V a l v e , Endoca rd ia l Diver t iculum Appendix III Autopsy Findings 180 Code Method No: o( TA Amniotic EGA at Fluid Termination Narrow D i a g n o s i s : Code: Imp: U / S Identification o f C y s t i c H y g r o m a P N D o f C y s t i c H y g r o m a Not Conf i rmed D u e to Fragmenta t ion N o Deve lopmen ta l A n o m a l i e s w e r e Identified in the Fe ta l T i s s u e s 759.B9 Imp: A s p l e n i a S y n d r o m e 759,oe A b s e n c e of S p l e e n 745 59 A S D 753 o i A b s e n c e of Kidney 747.19 Aor t i c A r c h C o a r c t a t i o n 747.5 S ing le Umbi l ica l Ar te ry 746.88 H y p o p l a s i a o f L Vent r i c le 753,48 Abnorma l Dis ta l Por t ion o f R Ure te r wi th Obs t . o f L u m e n (Dupl. be low & Dila t ion A b o v e Obs . ) 753.20 Obs t ruc t ive Hydroneph ros i s o f R K i d n e y due to Dis ta l Ureter Obst . 747.41 Pe rs i s t en t L Super io r V e n a C a v a 747.21 Aor t ic A r c h Isthmus H y p o p l a s i a 746.3 Aor t ic V a l v e Subaor t i c S t e n o s i s 746 e Mit ra l V a l v e A t r e s i a 745.11 Double Outlet R Vent r i c le 745.51 746.1 753.20 755,50 758.58 744.24 A S D , S e c u n d u m T y p e D y s p l a s i a o f Tr icusp id V a l v e M i l d Hydropervis - Bi la tera l Camptodac ty ly of 2nd F inger of R H a n d P N D of Ventr ic lomegal ly not confirmed Flat N a s a l bridge Imp: 4 6 , X Y , del(6)(p25) L o w P o s t e r i o r R o t a t e d E a r s P o s s i b l e C e r e b e l l a r V e r m i s Hyper te lo r i sm 740.02 A n e n c e p h a l y Imp: Mult i factorial N T D N o other Deve lopmenta l Abnormal i t ies 756 17 S a c r o c o c c y g e a l T e r a t o m a 762,20 La rge P l acen t a l Subchor ion ic H e m a t o m a Imp: S p o n t a n e o u s Abor t ion 748.51 H y p o p l a s i a of Lungs 778,5 Soft T i s s u e E d e m a , Diffuse 746.88 ? Pe r i ca rd i a l Effusions (Per icardium) 778 o Imp: Fe t a l Hydrops Fe ta l i s , no spec i f i c c a u s e 778 o A s c i t e s in per i toneal C a v i t i e s 749 07 Cleft Soft Pa l a t e 511.9 Bi la tera l P leura l Effusions , C a v i t i e s 762,28 E d e m a o f P l a c e n t a 22-23 22-23 22-23 22-23 228.1 P o s t e r i o r C e r v i c a l H y g r o m a ? 755.50 L H a n d 5th F inger C l inodac ty ly 758.58 Imp: 4 6 , X Y , der(18), t (11;18) 753.16 L K i d n e y F o c a l C o r t i c a l C y s t i c D y s p l a s i a 754.73 Bi la tera l C lub F e e t 17 • 1/2 17 • 1/2 17 • 1/2 17 + 1/2 17 + 1/2 17 * 1/2 746.4 748.33 745,48 751,01 751.24 750.13 748,30 756.34 756.08 Hemive r t ebe rae D y s p l a s t i c Aor t i c C u s p s T r a c h e a l A g e n e s i s V S D , Pe r imembranous M e c k e l s Diver t iculum Imperforate A n u s E s o p a g e a l - C a r i n a l F is tu la S m a l l L a r y n g e a l P o u c h 11 ribs C e p h a l o m e g a l y Imp: 4 6 , X Y , t (2;12) (q13;p11.2) D e n o v o B a l a n c e d R e c i p r o c a l T rans loca t ions N o Deve lopmen ta l Abnormal i t ies 511.9 Bi la tera l P leura l Effusions N o Other Deve lopmen ta l A n o m a l i e s 762.7 Chor ioamnion i t l s with Fe t a l Vascu l i t i s and Funis i t i s ind ica t ive o f a s c e n d i n g infection 752.84 Deficient Deve lopment of Pros ta t ic T i s s u e 748.51 Pulmonary H y p o p l a s i a 778.0 A s c i t e s 753 16 C y s t i c D y s p l a s t i c R Kidney 753,38 D imin i shed R e n a l P a r e n c h y m a L Kidney 753.29 Bi la tera l Hydroure te r Appendix III Autopsy Findings 181 Mathod Amniotic EGA at ot TA Fluid Termination Narrow D i a g n o s i s : Coda: 753.20 Bi la tera l Hydropetvis Imp: Mult i factorial N T D 74002 A n e n c e p h a l y 740.02 M e r o c r a n i a (NT T y p e 2 C l o s u r e Defect ) 746.4 745.63 553.1 754.73 748.53 756.14 749.09 758.02 744.88 Tubular H y p o p l a s i a of Aor t ic Isthmus Left Ventr icular D y s p l a s i a D y s p l a s i a o f Pulmonary Va tve D y s p l a s i a o f Aor t i c V a t v e A V C a n a l Defec t O m p h a l o c e l e Bi la tera l Club Fee t Imcomplete Loba t ion of Lungs A b s e n c e of Ver tebra l B o d i e s C e r v i c a l A r e a Cleft Pa la te Imp: T r i somy 18 S y n d r o m e N u c h a l E d e m a D y s m o r p h i c F a c i a l Fea tu res S y n d a c t y l y , 2nd & 3rd T o e s , L Foot 740 i Imp: C r a n i o r a c h i s c h i s i s 740.1 N T D c losu re defect involv ing 2 , 4 a n d 1 740.1 C r a n i o r a c h i s c h i s i s 745.49 V S D 745.51 A S D , S e c u n d u m T y p e 746 88 Po lyva lvu la r D y s p l a s i a - Aor t i c , Pulmonary & Tr icusp id 746 7 Hypoplas t i c L Vent r ic le 747.21 M i l d Tubular H y p o p l a s i a of A s c e n d i n g A o r t a 746.7 Imp: C o m p l e x Hypop las t i c Left Heart Synd rome , cannot rule out A . R . Inheri tance 778.0 H y d r o p s Fe ta l i s 228.1 C y s t i c H y g r o m a 747.5 757.2 758.00 Sing le Umbi l ica l Ar te ry Bi la tera l S i m i a n C r e a s e Imp: D o w n ' s S y n d r o m e 758.00 Imp: D o w n ' s S y n d r o m e N o Deve lopmen ta l Abnormal i t ies 761 3 Po lyhydramnios 762 30 T w i n to T w i n Trans fus ion (clinical) P l a c e n t a - disrupted making a morphologica l d i agnos i s of twin to twin t ransfusion imposs ib le 762 30 Imp: T w i n to T w i n Trans fus ion wi th Po lyhydramnios Induced S p o n t a n e o u s L a b o u r 762 30 M a r k e d C o r d D i s c r e p a n c y 759.30 S i tus Inversus , both twins Hemor rhage a n d C o n g e s t i o n of V i s c e r a 743.6 Prominent E y e s 747.26 Over r id ing A o r t a 745.20 Te t ra logy o f Fallot Var ian t 755.19 Bi la tera l S y n d a c t y l y , H a n d s 754.82 N a r r o w C h e s t 756 08 I nc reased H e a d S i z e 764 9 I U G R 758.58 Imp: Triploidy 745.51 A S D , S e c u n d u m T y p e 755.19 Bi la tera l S y n d a c t y l y , F e e t 762.28 H y p e r t e n s i v e D e c i d u a l V a s c u l a r V e s s e l s 747.38 Pu lmonary Artery H y p o p l a s i a 746.88 R Ventr icular Hyper t rophy 745 49 VSD 746.88 Di la ted R Atrium 753.16 C y s t i c D y s p l a s t i c L K i d n e y 747.5 2 V e s s e l C o r d 762.7 M o d . Chor ionamni t i s 762.28 M o d . Dec idu i t i s 746.00 Pu lmonary Va tve A t r e s i a P N D not conf i rmed due to fragmentat ion N o other Deve lopmen ta l A n o m a l i e s 751 01 M e c k e l s Diver t iculum 749.29 758 10 749.29 Cleft Pa l a t e Imp: T r i s o m y 13 S y n d r o m e Cleft L ip 758 20 Imp: T r i s o m y 18 S y n d r o m e , 4 7 , X X , + 18 Appendix III Autopsy Findings Code Method No: of TA Amniotic EGA at Fluid Termination Narrow D i a g n o s i s : Code: 754.73 Bi la tera l C lubbed F e e t 745 48 V S D , Pe r imembranous 747.5 S ingle Umbi l ica l Artery 748.51 Pu lmonary H y p o p l a s i a 759.84 Imp: S i r enome l i a S e q u e n c e 746.86 C a r d i o m e g a l y 753.38 S igmo id A g e n e s i s 751.24 A n o r e c t a l A g e n e s i s 759 84 S i r enome l i a S e q u e n c e , S ingle A b n . Midl ine Limb 753 Urogeni ta l A g e n e s i s , Absen t K idney , Bladder , Geni ta l i a and G o n a d s 16 - 1/2 16 * 1/2 16 * 1/2 16 * 1/2 16 • 1/2 16 + 1/2 758.10 Imp: T r i s o m y 13 S y n d r o m e P N D of N u c h a l C y s t i c H y g r o m a not conf i rmed due to fragmentat ion 755.00 Bi la tera l P o s t a x i a l Po lydac ty ly of H a n d s 755.02 Pos t ax i a l Po lydac ty ly of L Foot 745.20 Tet ra logy of Fallot 752.48 D y s p l a s t i c Externa l Gen i t a l i a 75101 M e c k e l s Diver t iculum Imp: Mult i factorial N T D 740 02 Neura l T u b e C l o s u r e T y p e 2 Defect 745.51 A S D , S e c u n d u m T y p e 755.50 Bi la tera l 5th F inger C l inodac ty ly 740.02 A n e n c e p h a l y (Meroc ran i a ) 754.73 740.2 744.91 524.0 759.7 744.88 756.30 742.25 742.48 742.21 742.28 553.1 762.7 744.24 762.7 746.88 K y p h o s c o l i o s i s of T h o r a c i c Ver t eb rae Single F u s e d K i d n e y Hi rsu t i sm R Club Foot Iniencephaly Sriort Forehead. Flat Occiput. Shalow Ortital Ridges, inner Epicanthal Folds, Broad Nasal Bridge. Upslanting Palpebral Fissures Microgna th i a Imp: M C A , P o s s i b l e C h r o m o s o m e Anoma ly - ( R . R . 5%) Short N e c k 9 R i b s Po ly microgyr ia La te ra l Ven t r i c le C o l l a p s e A b s e n t C o r p u s C a l l o s u m A b s e n t Olfac tory L o b e a n d Trac t O m p h a l o c e l e Chor ionamni t i s L o w S e t E a r s F o c a l Vi l lus Infection, P l a c e n t a ? P e t e c h i a l H e m o r r h a g e s o n Hear t Hyper t rophic G r e y Mat ter , F o c a l 753.20 L Hydroneph ros i s Imp: T 1 3 , T 1 8 , M e c k e l - G r u b e r , o r P s e u d o T 1 3 S y d r o m e 748.51 Pu lmonary H y p o p l a s i a 742.00 O c c i p i t a l E n c e p h a l o c e l e 752.08 L G o n a d a l A g e n e s i s 752.38 R U n i c o m u a t e Uterus 745.51 A S D , S e c u n d u m T y p e 747.21 H y p o p l a s i a of Aor t ic Isthmus 553.1 L a r g e Ompha loce l e 756 30 11 R i b s 778.5 228.1 Redundant N u c h a l S k i n N o other Deve lopmen ta l Abnormal i t ies E d e m a o f H a n d s a n d F e e t Imp: C y s t i c H y g r o m a with A s s o c i a t e d Btlat. P leura l Effusions - et iology i s not known 755 09 P o s t a x i a l Po lydac ty ly L H a n d a n d L Foot 748.18 Abnorma l N o s e , (Holoprosencepha ly ?) 758 io Imp: Tr i somy 13 S y n d r o m e 749.09 Cleft Pa la te P N D of Heart Defect not conf i rmed due to fragmentation N o Deve lopmen ta l Abnormal i t ies In Intact Par t s 758 4 Imp: B a l a n c e d R e c i p r o c a l T r a n s l o c a t i o n 758.20 762.28 Charac t e r i s t i c H a n d Pos i t ion ing Heart E x a m Pend ing ? ? ? Imp: T r i somy 18 S y n d r o m e Immature P l acen t a l T i s s u e Atr ioventr icular S e p t a l Defec t Imp: Congen i t a l Hear t Defect Appendix III Autopsy Findings Method ofTA Amniotic EGA at Fluid Termination Narrow D i a g n o s i s : Code: 750.28 749.29 524.0 744,24 746 4 747,21 745.48 758.20 749.29 S m a l l M o u t h Cleft Pa l a t e M i c r o g n a t h i a L o w Se t E a r s D y s p l a s t i c B i c u s p i d V a l v e s Aor t ic H y p o p l a s i a V S D , Pe r imembranous s Imp: T r i s o m y 18 S y n d r o m e Cleft L ip 758.00 Imp: Down ' s S y n d r o m e 755.50 Bi la tera l 5th Finger Cl inodac ty ly 757 2 B i l a t e ra l S i m i a n C r e a s e Heart D i s e c t i o n i s Pend ing - A d d e n d u m Report wiD be r e l e a s e d 753.00 Bi la tera l R e n a l A g e n e s i s 748.51 Pu lmonary H y p o p l a s i a , (Ol igohydramnios S e q u a l a e ) 755.88 Pos i t i ona l Deformity o f L o w e r L i m b s (Ol igo. S e q u a l a e ) P N D o f N T D not conf i rmed due to f ragmentat ion N o Deve lopmenta l Abnormal i t ies Imp: Mult i factorial N T D (antenatal finding) 755.88 755,88 Head-Fron ta l B l o s s i n g S e v e r e P la tyspondyly Short L o n g B o n e s P h y s e a l Disorgan iza t ion Dysmatura t ion o f B o n e s Short R i b s 778 0/742 Imp: Fe t a l H y d r o p s & D a n d y W a l k e r M a l f n , U n k n o w n C a u s e N o Deve lopmen ta l Abnormal i t i e s in parts submit ted for e x a m T h e h e a d i s s epa ra t e a n d ex tens ive ly d a m a g e d Imp: Mult i factorial N T D 741,98 M e n i n g o m y e l o c e l e at the L o w e r T h o r a c i c / L u m b a r Ver tebra l Co lumn 747.19 Aor t i c C o a r c t a t i o n 758,60 Imp: Turners S y n d r o m e 778.5 G e n e r a l i z e d E d e m a 228.1 C y s t i c H y g r o m a , P o s t e r i o r C e r v i c a l 746.88 748.51 755.26 755.52 758.20 Shor t a n d Irregular R Ulna Polyvarvular D y s p l a s i a Pu lmonary H y p o p l a s i a Absen t R R a d i u s Bi la tera l W r i s t F l ex ion Imp: T r i somy 18 S y n d r o m e 759.84 Imp: P o s s i b l e Hol t -Oram S y n d r o m e or R a d i a l A p l a s i a o r F a n c o n i ' s P a n c y t o p e n i a 747 41 P o s t e r i o r L Super io r V e n a C a v a 745 63 A V C a n a l Defec t 759.84 Imp: Diff. Dx . Hol t -Oram S y n d r o m e or F a n c o n i ' s P a n c y t o p e n i a S y n d r o m e 755.58 Bi la tera l Hand lebar C l a v i c l e s 755.28 U l n a slightly b o w e d and shor tened 755,52 R a d i a l D e v i a t i o n of hands at wr is t s 755.26 Bi la tera l A b s e n c e of R a d i u s and Thumbs 746 i D y s p l a s t i c Tr icusp id Varve P N D of C y s t i c H y g r o m a not confirmed due to fragmentation 747.41 Pers i s ten t L Super io r V e n a C a v a 745 49 V S D 746.08 Oysp la s t i c Pu lmonary Varve 758.20 Imp: T r i somy 18 S y n d r o m e 746 4 B i c u s p i d Aor t ic V a l v e 748.51 M i l d Pu lmonary H y p o p l a s i a N o other Deve lopmen ta l Abnormal i t ies 754 20 S c o l i o s i s 762.28 Abnormal ly L a r g e P l a c e n t a 756 7i G a s t r o s c h i s i s 764 9 I U G R 756.71 Imp: G a s t r o s c h i s i s likely due to v a s c u l a r disruption defect 17 • 1/2 17 * 1/2 17 + 1/2 17 <• 1/2 758 09 Imp: Diff. D i a g n o s i s of T r i somy 21 S y n d r o m e 756.90 Trans ient Myeloprol i fera t ive Diso rde r 762.20 P l acen t a l Infarctions 762.20 I n c r e a s e d Perv i l lous Fibr in (Borderl ine) Appendix III Autopsy Findings 184 Code Method Amniotic EGA at No: o(TA Fluid Termination Narrow D i a g n o s i s : Code: 34 17 * 1/2 757.20 S i m i a n C r e a s e 34 17 + 1/2 754.01 Pot te r s F a d e s (Oligo. S e q u a l a e ) 34 17 + 1/2 748.51 Pulmonary H y p o p l a s i a (Oligo. S e q u a l a e ) 34 17* 1/2 755.50 5th Finger Cl inodac ty ly 4 15- 18 G.P. 20 dates 778.5 Bulbous E d e m a of Ext remi t ies 4 15- 18 G.P. 20 dates 3 D a y s Re ten t ion Fol lowing IUD 4 15- 18 G.P. 20 dates 747.5 2 V e s s e l Umbi l ica l C o r d 4 15- 18 G.P. 20 dates 762,8 Inc reased syncy t i a l Knott ing 4 15- 18 G.P. 20 dates 778.0 A s c i t e s 4 15- 18 G.P. 20 dates 758,69 Imp: Turner S y n d r o m e P h e n o t y p e 4 15- 18 G.P. 20 dates 746.4 B i c u s p i d Aor t ic Va tve 4 15- 18 G.P. 20 dates 747.21 Tubular H y p o p l a s i a of Aor t ic A r c h 4 15- 18 G.P. 20 dates 762.28 Extens ive ly E d e m a t o u s H y p o v a s c u l a r i z e d & Bulky Villi 4 15- 18 G.P. 20 dates 748,51 Pleura l Effusion wi th Pulmonary H y p o p l a s i a 4 15- 18 G.P. 20 dates 228.1 C y s t i c H y g r o m a of Pos te r io r N e c k " 15- 18 G.P, 20 dates 762,8 Inc reased Trophoblas t i c membrane Minera l i za t ion 2 16 752.08 Hypop las t i c O v a r i e s 2 16 758.60 Imp: Turners S y n d r o m e 2 18 778.5 Limb E d e m a 2 18 228.1 C y s t i c H y g r o m a t a 2 18 747.41 Pers i s ten t L V e n a C a v a 7 18 746.88 Polyva lvu la r D y s p l a s i a , 20 745,11 R Double Outlet Ven t r i c le 1 20 748.88 L Vent r i c le H y p o p l a s i a 1 20 746.00 A t r e s i a of Pu lmonary V a t v e 1 20 746.6 A t r e s i a o f Mit ra l V a t v e 1 20 745.49 V S D 1 20 745.58 A S D 1 20 747 41 Pers i s ten t L Supe r io r V e n a C a v a 1 20 746.88 Hyper t rophy o f R Vent r ic le 1 20 746.88 Hyper t rophy o f R Atrium 1 20 744,91 Externa l D y s m o r p h i c Fea tu re s , S p l a y e d N a s a l Br idge 1 20 744.24 L o w Se t Pos ter ior ly R o t a t e d E a r s 1 20 746 Imp: C o m p l e x Congen i t a l Heart D i s e a s e 1 20 755,02 A c c e s s o r y Grea t T o e 20 524.0 Microgna th i a 15 1/2 756.32 F u s e d 1st a n d 2nd R i b s 1 15 1/2 Imp: Mult i factorial N T D 1 15 1/2 740.1 C r a n i o r a c h i s c h i s i s 1 15 1/2 740.1 Neura l Tube C l o s u r e 2 , 4 a n d 1 Defect 1 15 1/2 759,11 A d r e n o c o r t i c a l H y p o p l a s i a ' 15 1/2 745 49 V S D 3 15 3 752.60 H y p o s p a d i a s 3 15 3 752.88 A m b i g u o u s Gen i t a l i a 3 15 3 758.58 Imp: Triploidy 3 15 3 553.1 O m p h a l o c e l e 1 19 755.50 Bila tera l C l inodac ty ly o f 5th F inger 1 19 757.2 Bila tera l S i m i a n C r e a s e s 1 19 745.63 A V C a n a l Defec t 1 19 758.00 Imp: D o w n ' s S y n d r o m e 17*4 P N D o f Cerebe l l a r A n o m a l i e s Not Conf i rmed D u e T o Fragmenta t ion 17 + 4 Imp: U / S Identified Congen i t a l A n o m a l i e s 17 + 4 P N D o f C y s t i c H y g r o m a Not Conf i rmed D u e T o Fragmenta t ion 17 + 4 753.18 R e n a l Cor t i ca l C y s t s 17 + 4 762,7 Diffuse Chor ioamnlon i t i s 18*1/2 gp.i9+1/2 date 746.88 Hypop las t i c L Vent r ic le 18+1/2 5P.19+1/2 date 747.5 S ing le Umbi l ica l Artery 18+1/2 gp.19* 1/2 date 753.29 Hydroureter , Bi la tera l 18+1/2 op.i9* 1/2 date P N D o f H y d r o c e p h a l u s Not Conf i rmed D u e T o Fragmenta t ion 18+1/2 gp.19* 1/2 date 746,6 Mi t ra l A t r e s i a , membranous 18*1/2 DP.'9* 1/2 date 749 09 Cleft Pa la t e , P o s t e r i o r 18* 1/2 gp.19* 1/2 date 745.51 A S D , La rge , S e c u n d u m ( C o m m o n Atrium) 18+1/2 gp.19* 1/2 date 746 4 Aor t ic A t r e s i a , membranous 18+1/2 gp.19* 1/2 date 745,60 Incomplete A V S D , S e p t u m Pr imum Defect (AV C a n a l ?) 18+1/2 gp.19* 1/2 date 759,7 Imp: N o Disc re t e S y n d r o m e : Ve loca rd io fac ia l /Hydro le tha lus /Frynn S y n d r o m e 18+1/2 gp.19* 1/2 date P N D of N T D Not Conf i rmed Due T o Fragmenta t ion 18*1/2 gp,i9+1/2 date 753.29 Ec top i c /Abnorma l Ur te rocys t i c Junc t ions 18+1/2 gp.19+1/2 date 777.6 M e c o n i u m Per i toni t is , F o c a l 18*1/2 gp.19+1/2 date 747,21 Tubular H y p o p l a s i a of A s c e n d i n g A o r t a 18*1/2 gp.19* 1/2 date 746.08 B i c u s p i d Pulmonary V a l v e , D y s p l a s t i c ie*i/2gp,i9+l/2date 753,20 Hydronephros i s , Bi la tera l Appendix III Autopsy Findings 185 Method o(TA Amniotic EGA al Fluid Termi nation Narrow D i agnos i s : Code: 25-26 (dates) 25-26 (dates) 25-26 (dates) 25-26 (dates) 22-23 22-23 22-23 22-23 22-23 22-23 22-23 22-23 22-23 22-23 22-23 22-23 22-23 758.00 757.2 755.50 764.9 761,2 755.50 741.01 524.0 740.29 742.1 742.00 741.90 744.24 754.20 T47.5 745.59 745 49 751.49 744.91 Imp: D o w n ' s S y n d r o m e - 4 7 , X Y , + 21 Bi la tera l S i m i a n C r e a s e s Bi la tera l 5th F inger Cl inodac ty ly Probab le Intrauterine Growth Retarda t ion Ol igohydramnios Imp: U n k n o w n C a u s e of I U G R C y t o m e g a l i a - M y o c a r d i u m Bi la tera l 5th F inger Cl inodac ty ly L u m b o s a c r a l M y e l o m e n i n g o c e l e P N D o f Arnold Chia r i not conf i rmed due to fragmentat ion Imp: Mult i factorial N T D Imp: D o w n ' s S y n d r o m e N o Deve lopmen ta l Abnormal i t ies Mic rogna th i a Intnencephaly M i c r o c e p h a l y O c c i p i t a l E n c e p h a l o c e l e C e r v i c a l R a c h i s c h i s i s L o w S e t E a r s Imp: Like ly Mult i factorial N T D with A s s o c i a t e d C H D ( 5 % R . R . ) Thoraco lumbar S c o l i o s i s S ingle Umbi l i ca l Artery A S D V S D Mal ro ta t ion of G l Tract Dysmorph ic F a c i a l Fea tu res 2 5 23 742.46 T w i n A P e t e c h i a e of C e r e b r a l C o r t e x 2 5 23 759.24 T w i n A C o r t i c a l H i s to idcy tos i s of Thymus 2 5 23 762.30 Imp: P o s s i b l e T w i n to T w i n Trans fus ion 2 5 23 751.20 T w i n A A t r e s i a o f D e s c e n d i n g C o l o n 2 5 23 759.18 T w i n A S t e a t o s i s o f C o r t e x o f A d r e n a l G l a n d 2 5 23 756.88 T w i n A Ear ly Hya l ine M e m b r a n e D i s e a s e 2 5 23 762.30 T w i n A Ar te ry to Artery A n a s t o m o s e s 2 5 23 762.28 T w i n A Vi l lus E d e m a 2 5 23 553.1 T w i n B O m p h a l o c e l e wi th Hern ia ted L ive r , S t o m a c h 2 5 23 759.24 T w i n B Cor t i ca l H i s t o c y t o s i s of Thymus 2 5 23 759.18 Twin B S t e a t o s i s of Fe t a l C o r t e x of Adrena l G l a n d 2 5 23 762.30 T w i n B Artery to Artery A n a s t o m o s e s 2 5 23 762.28 Twin B Vil lus E d e m a 2 5 23 762.8 T w i n B Dec idu i t i s 1 1 12 + 5 758.02 4 6 , X X , - 14 , +t<14q;21q) N o Deve lopmen ta l Abnormal i t i e s 762.28 Immature P l acen t a l T i s s u e s 758,02 Imp: T r a n s l o c a t i o n D o w n ' s S y n d r o m e 748.30 L a r y n g e a l A t r e s i a without F i s tu la 751.58 Abnormal ly P o s i t i o n e d A n u s 748,51 Pu lmonary H y p e r p l a s i a 752.82 L e y d i g Cefl Hype rp l a s i a - T e s t i e s 747.5 S ingle Umbi l ica l Artery 762.60 Short Umbi l ica l C o r d 762.28 L a r g e P l a c e n t a 754.01 O l igohydramnios D y s m o r p h i c F e a t u r e s 754.20 S c o l i o s i s wi th multiple ver tebra l anomal i e s 759 89 Imp: Va r i a t i on in V A T E R A s s o c i a t i o n 762.28 C h o r i o n i c Vil lus E d e m a 756 00 C o r o n a l S y n o s t o s i s L 754.73 Bi la tera l C lubbed F e e t 762.8 A m n i o n N o d o s u m 752.88 A b n Pos i t ion ing of Sc ro tum and P e n i s 753.16 C y s t i c D y s p l a s i a L K i d n e y 753.01 R e n a l A t r e s i a R 756.17 Hypop las t i c S a c r u m 746 88 S ing le C o r p u s C a v e m o s u s , Hear t 751.01 M e c k e l ' s Diver t iculum 753.21 Uretra l S t e n o s i s , L 753 69 M e a t a l A t r e s i a 751 67 P a u c i t y o f Interhepatic Bi le Duc t s , L i v e r 759.18 I nc reased Fe ta l Z o n e - A d r e n a l G l a n d 745.51 A S D , S e c u n d u m 751.78 Islet hyperp las ia - P a n c r e a s , E n d o c r i n e G l a n d Hype rp l a s i a 43008 Appendix III Autopsy Findings 186 Method Amniotic EGA at ot TA Fluid Termination Narrow Code: 753.13 751.62 754.01 D i a g n o s i s : P o l y c y s t i c K i d n e y s Mild Duc t a l Pla te Malformat ion of the L i v e r Ol igohydramnios T y p e F a c i e s 22-23 22-23 22-23 22-23 N o other Deve lopmen ta l Abnormal i t ies U n u s u a l T y p e o f A n e n c e p h a l y (Encepha ly ) A d r e n a l H y p o p l a s i a Imp: Mult i factorial N T D 757.2 758.00 755.50 S i m i a n C r e a s e Imp: Down ' s S y n d r o m e R C l inodac ty ly o f 5th F inger 35 wks 35 wks 35 wks 35 wks 751.10 Duodena l A t r e s i a 758.00 Imp: D o w n ' s S y n d r o m e 748 88 Desqua lma ted S q u a l m e s in Dis ta l A i r w a y s 759.04 S m a l l A c c e s s o r y S p l e e n 20 754.73 B i la te ra l C lubbed F e e t 20 753.13 P o l y c y s t i c K i d n e y s 20 759.87 P o s s i b l e Zee rwege r S y n d r o m e 23 758.70 Klinefel ters S y n d r o m e 23 N o Recogn izab l e Deve lopmen ta l Abnormal i t ies 19+5 c.p.. 20+5 Dates 748.18 F a c i a l D y s m o r p h i s m with Flat N a s a l Bridge 19 + 5 G.P . , 20+5 Dates 744 23 F a c i a l D y s m o r p h i s m with S imple S q u a r e E a r s 19 + 5 G P.. 20 + 5 Dates 758.00 Imp: D o w n ' s S y n d r o m e - 4 7 , X X , + 21 19*5 G P . . 20 + 5 Dates 745.63 A V C a n a l Defec t 15 753.88 D i s t ended Urinary Bladder 15 N o O b v i o u s Urethral Obs t ruc t ion W a s Identified 15 759.7 Imp: M C A - N o K n o w n Et iology 15 754.73 Bi la tera l C l u b b e d Fee t 15 753.28 M i l d Bi la tera l Hydroure ters 15 511.9 Bi la tera l P leura l Effusions 15 778 o Fe t a l Hydrops 15 228 1 C y s t i c H y g r o m a 15 778 o Imp: Fe t a l H y d r o p s - U n k n o w n Et io logy 16 * 1/2 15 * 1/2 16* 1/2 16+ 1/2 16 + 1/2 16 + 1/2 15 * 1/2 746.6 D y s p l a s t i c P a r a c h u t e Mit ra l Varve 746.08 D y s p l a s t i c B i c u s p i d Pu lmonary Varve 746.1 D y s p l a s t i c Tr icusp id V a l v e 745.48 V S D , Pe r imembranous 764.9 I U G R 747.5 S ingle Umbi l ica l Artery 745.20 Tet ra logy of Fallot 755.51 Abnorma l F inger Pos i t ion ing 553.1 Ompha loce l e 758.20 Imp: Tr i somy 18 S y n d r o m e 746 4 D y s p l a s t i c B i c u s p i d Aor t ic Varve with Dis ta l D i sp lacemen t o f C o r o n a r y O s t i a 16 + 1/2. 19 + 1/2 dates 764.9 Twin A - I U G R 16 + 1/2, 19 + 1/2 dates Twin B - IUD 3 w e e k s retention 16 + 1/2, 19 + 1/2 dates 754.20 T w i n A - Thro a c o lumbar S c o l i o s i s 16 + 1/2. 19 +1/2 dates 553.1 T w i n A - O m p h a l o c e l e 16 + 1/2. 19 + 1/2 dates 756.79 T w i n A - C l o a c a l Exs t rophy 16 + 1/2. 19 + 1/2 dates 759.89 Imp: T w i n A - C l o a c a l D y s g e n e s i s S e q u e n c e , T w i n B - IUD 16 + 1/2. 19 + 1/2 dates T w i n B - All o rgans his tological ly O K 17 + 2 755.50 Abnorma l F l ex ion o f the 4th Finger , Bi la tera l 17 + 2 754 4 The Limbs a re Marked ly Short W i t h Abnorma l B o w i n g of the F o r e a r m a n d L o w e r L e g s 19 740.1 C r a n i a l R a c h l s c h i s i s 19 Imp: Mult i factorial N T D 19 754.22 C e r v i c a l Retrof lexion 745.49 753.32 744.23 758.20 755.51 V S D H o r s e s h o e Kidney D y s m o r p h i c E a r s Imp: T r i somy 18 S y n d r o m e D y s m o r p h i c H a n d s 756.08 757.2 758.00 Hyper te lo r i sm Bi la tera l S i m i a n C r e a s e Imp: D o w n s S y n d r o m e N o Deve lopmen ta l Abnormal i t i e s Appendix III Autopsy Findings 187 Method Amniotic EGA at ofTA Fluid Termination Narrow D i a g n o s i s : Code: ' 758.00 Imp: Down ' s S y n d r o m e L u m b o s a c r a l M e n i n g o m y e l o c e l e P N D o f Arno ld Ch i a r i Malf . not conf i rmed due to fragmentation Imp: Mult i factorial N T D 18 - 1/2 18 + 1/2 N o Deve lopmen ta l Abnormal i tes Unab le to confirm P N D of U / S de tec ted Ompha loce l e 22-23 22-23 747 41 Pe rs i s t en t L Super io r V e n a C a v a 746.88 R Vent r icu la r Hyper t rophy 746.7 Hypop las t i c L Hear t 746.4 Aor t i c A t r e s i a 746 86 E n d o c a r d i a l F ib roe l a s to s i s , L Vent r i c le 758.60 Imp: Turner ' s S y n d r o m e S e p a r a t e d a ma g ed h e a d . . . there i s no e d e m a in the fragments identified N o Congen i t a l Malformat ions Imp: Normal ly D e v e l o p e d M a l e Fe tus 755.00 759.82 P o s t a x i a l Po lydac ty ly - H a n d s , Bi la tera l Imp: A . R . C o n d . ? Chondroec tode rma l D y s p l a s i a o r Shor t Rib Po lydac ty ly S y n d ' s (Nonspec i f ic Diag.) 22-23 755.88 Ske le t a l D y s p l a s i a - A b n . Shor t a n d A b n . S h a p e d L o w e r L i m b s 22-23 755.88 Abnormal P h y s e a l Growth Z o n e 14 746.88 Twin A - T i n y L Aur ic le 14 746.88 Twin A - Redundant F o r a m e n O v a l e 14 745.11 Twin A - Double Outlet R Vent r ic le 14 745 3 T w i n A - Univentr icular Heart with A b n Rota t ion of Grt . V e s s e l s 14 759.49 T w i n A - E v i d e n c e o f Con jo ined Twinning (2 s t o m