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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 F O L L O W I N G 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 P A R T I A L F U L F I L M E N T 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  degree  at the  thesis  in  University of  partial  fulfilment  of  of  department  this thesis for or  by  his  or  requirements  British Columbia, I agree that the  freely available for reference and study. I further copying  the  representatives.  an advanced  Library shall make it  agree that permission for extensive  scholarly purposes may be her  for  It  is  granted  by the  understood  that  head of copying  my 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  ii  Table of Contents  v  List of Tables  x  List of Figures  xi  Acknowledgments Chapter 1 Introduction 1.1 Overview of Prenatal Diagnosis 1.1.1 Accuracy Measures of Prenatal Diagnosis  xii 1 1 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 1.5.1 Overview of Medical Termination Procedures  25 26  1.5.1.1 Advantages and Disadvantages of Medical Terminations 1.5.2 Overview of Surgical Termination Procedures  26 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 1.6 Overview of Fetal Pathology  29 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 1.6.3 Etiology of Fetal Abnormalities  31 32  1.7 Overview of Genetic Counseling  33  1.7.1 Recurrence Risks  34  1.8 Aims of the Study Chapter 2 Methods and Subjects  35 38  2.1 Ascertainment of Subjects  38  2.2 Sources of Data  39  2.2.1 Maternal Information  39  vii  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 Chapter 3 Results  58 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 w i t h the affected pregnancy or terminating the pregnancy is a n 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. P r e n a t a l 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 i n 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 n o r m a l fetuses that are found to be n o r m a l by prenatal diagnostic procedures. Positive predictive value is a measure of the proportion of fetuses w i t h abnormal prenatal diagnostic screening that really are abnormal. Negative predictive value is a measure of the proportion of fetuses w i t h 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. M a t e r n a 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; ShenSchwarz, 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 Feature  Ultrasound Markers of Trisomy 18* 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 of Aneuploidy CNS Abnormalities 19% Congenital Heart Defects 36% Omphalocele 26% Skeletal Abnormalities (Isolated) 1% Skeletal Abn. (Not Isolated) 37% Renal Abnormalities 5 - 9% Cystic Hygroma (with Hydrops) 100% Cystic Hygroma (No Hydrops) 25% Facial Abn (Isolated) < 1% Facial Abn (Not Isolated 27% Gastrointestinal 21% Abn = Abnormality  Reference  Eydoux, et al., 1989 Eydoux, et al., 1989 Eydoux, et al., 1989 Eydoux, et al., 1989 Eydoux, et a l , 1989 Wilson, et al., 1988 Brumfield, et al., 1991 Brumfield, et al., 1991 Eydoux, et al., 1989 Eydoux, et al., 1989 Eydoux, et al., 1989  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 w a l 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 umbilical 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 w a l l w i t h a normal umbilical cord insertion site. The bladder and stomach may also be involved. The accuracy of ultrasound identification of gastroschisis has been found to be h i g h w i t h sensitivity reaching 92 - 100% (Gonclaves, et al., 1994; and L e v i , et al., 1995). Omphalocele is characterized by the herniation of the abdominal viscera into an amniotic membrane sac attached to the umbilical ring. The defect is thought to be due to failure of lateral body-fold migration and bodyw a l l closure (Kalousek and L a u , 1992). While most cases of omphalocele are sporadic, the condition is often associated w i t h chromosomal abnormalities, such as trisomies 13 and 18, and rarely w i t h autosomal or X - l i n k e d inheritance (Nicholaides, et al., 1992b). I n fetuses w i t h 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 umbilical insertion by ultrasonography.  The accuracy of ultrasound detection of omphalocele is  high, w i t h 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 C y r (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 w e l l as the tricuspid a n d m i t r a l valves. L o n g 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 v a l v u l a r 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 s k 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  Ultrasound Detection of Cystic 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 i n 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 and 10 week of gestation. Most cases of diaphragmatic th  th  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 Cardiovascular Chromosomal  Single Gene Disorders Respiratory Maternal Placenta Infection  Specific Condition Congenital heart block Structural defects Cardiomyopathy Trisomy 21 Other trisomies Turner syndrome Triploidy Osteogenesis imperfecta Achondrogenesis Thalassemia Diaphragmatic hernia Cystic adenoma of the lung Severe anemia Severe diabetes mellitus Fetomaternal transfusion Chorioangioma 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 8 to 14 wks 14 to 19 wks > than 19 wks  Cervical Dilatation 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 w i t h the risk of recurrence; iv. choose the course of action which seems appropriate to them i n view of their r i s k and their family goals and act i n accordance w i t h 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 limited to,  decisions regarding reproduction. Couples face many choices while undergoing genetic counseling, the choice of utilizing 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. F e t a l abnormalities of mendelian origin may be of autosomal recessive (AR), autosomal dominant (AD), or X-linked recessive/ dominant traits. Based on Mendel's L a w 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 1 , 1991 and January 1 , 1996. Selection of Medical Genetics st  st  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 , 1995 to Jan. 1 , 1996, information regarding the utilization of st  st  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 k n o w n 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 w r i t t e n description of the autopsy findings, and a description of w h i c h tissues were examined at autopsy (gross or histological examination). Autopsy findings are listed i n Appendix III and Appendix I V .  2.2.4  Cytogenetics Information The results of cytogenetics investigations were transcribed from the  cytogenetics reports. P r e n a t a l 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 w i t h i n the M e d i c a l Genetics chart or described i n 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 revision of the International Classification of th  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 w h i c h the fetus was spontaneously aborted or miscarried, were treated as medical cases. Cases w i t h intrauterine demise identified by ultrasonography were categorized as either surgical or medical according to the method used to evacuate the uterus. Statistical analysis was performed using S P S S statistical software on an I B M compatible personal computer. The data were arranged into tables w i t h 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. M u l t i p l e logistic regression was performed to assess the effect that the prenatal cytogenetics results and the gestational age at termination h a d 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. E x a m i n a t i o n of autopsy findings for fetuses terminated w i t h specific ultrasound identified abnormalities was  45  facilitated by performing Microsoft A C C E S S queries. M u l t i p l e queries were performed i n w h i c h cases were selected by specific ultrasound-identified or -suspected fetal abnormalities (see table 2.1).  Following the identification of  cases w i t h 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 i n a condition that they can be examined, then they w i l l be assessed at embryofeto-pathology examination. Cases w i t h 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 Abnormality A b d o m i n a l W a l l Defects (Gastroschisis or Omphalocele) Anencephaly/Acrania Congenital H e a r t Defects (Structural) Cystic H y g r o m a Cystic K i d n e y Disease Diaphragmatic Defects Nonimmune F e t a l 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. A n a l y s i s 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 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 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 utilized i n the termination, and the gravidity of the mother. Statistical analysis was performed using S P S S statistical software on a n 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. Additionally, odds ratios w i t h 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 I n a chi-square test, a theoretical population distribution is compared  w i t h a distribution generated by a sample. I n other words, the c h i 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  Examined Yes No C o l u m n Totals  Method of Termination Surgical Medical Xn X12  Row Totals Ri  X21  X22  R2  c  C  Total(T)  2  2  49  I n 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 n u l l hypothesis was calculated using the formula: fn=  where:  (CiHRi) T  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 = £ (Ifi - fii - 0.5)2 2  where:  j  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 i n row i and column j ; under the n u 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 w i t h 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 t h a n one, the approximation is good. W h e n 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 R ) and column (Ci and C ) 2  2  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: P=  Ri!R !Ci!C ! n! , fll!fl2!f2l!f22! 2  2  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 n u l l hypothesis is true.  2.6.3  Multiple Logistic Regression I n 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 . . . p X 1-p 2  n  ,  where: p is the probability of a n event i n the response variable; a is a constant; X is the explanatory variable; and P is the effect (increment i n log odds) of a n 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, a n exponential transformation of the multiple logistic regression model can be used, (Menard, S., 1995): p =  [ + P(Xi) + P(X2)+... P(Xn)] a  e  1 +  e  t  [« + P(Xl) + P(X ) + ... P(X )] 2  n  o  r  52  probability of examined at autopsy =  a + P e  l  +  <  P N D  °  fC h r  -  A b n  >  + P ( G e s t  - e A  e  atTA  >  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 . The odds ratio is the amount that is multiplied to the p  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 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 a n explanatory variable; a n d P _ is the odds of the event occurring i n the response variable. 1 -P p  A n odds ratio greater t h a n 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 n o r m a l karyotype), while a n odds ratio less t h a n 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  ( ), where S . E . is the standard error for the P coefficient. sE  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  V  Estimated Gestational Age at Termination  RESPONSE VARIABLES  r  Probability of: Surgical Termination CNS Examination at Autopsy Heart Examination at Autopsy Kidney Examination at Autopsy  y  )  54  M u l t i p l e logistic regression can also be employed to assess whether an interrelationship exists between two explanatory variables ( X i 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. W h e n 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(  2.6.3.1  p ) = a + p(a + p X ) + p X ... PX„ . 1- p 2  3  Evaluation of Multiple Logistic Regression  The logistic regression output from S P S S (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. H o w confident can one be that a relationship between a l l the explanatory variables, t a k e n 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) . When the log2  likelihood is multiplied by -2, it has approximately a chi square distribution. Large values of-2 L L 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 Pi = 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 L statistic. The R L statistic is calculated by dividing the model chi square 2  2  56  score by the i n i t i a l -2 log-likelihood. The W a l d statistic (W ) is used to test 2  for the statistical significance of the effect (p) that an explanatory variable has on the response variable, (Menard, S., 1995). The W a l d statistic is calculated as W  2  = [p/S.E. p] , and is distributed as a chi square distribution. 2  The W a l d statistic is calculated for the explanatory variable as a whole and also for the separate categories of the variable. The statistical significance of the i n d i v i d u a l 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 i n d i v i d u a l 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 w i t h (Menard, S., 1995).  2.6.4  Odds Ratios Calculating an odds ratio is another way of m a k i n g comparisons  between two categories. The results of odds ratio analysis may be particularly useful for counselling purposes. U s i n g this method, the odds of a n outcome i n a dependent variable i n one category are compared w i t h the odds of the outcome i n a second category. D r a w i n g from symbols used i n table 2.2, the odds ratio may be calculated as: Odds Ratio(OR) = (Xn)(X 2) 2  (X12XX21)  , (Altman, 1991),  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 2 is the number of cases in category 2 with outcome 2. 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. log OR) of the logarithm of the odds e  ratio must first be determined. The standard error can be calculated by the formula: S.E.floge OR)= Vl/Xn + I / X 1 2 + 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. A s multiple statistical tests were performed i n this thesis, the overall a for the set of tests was calculated. The i n d i v i d u a l 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 n u l l hypothesis w h e n 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 n u l l hypothesis when it is false, is equal to (1 - P).  2.7  Ethical Review E t h i c a l review was sought and approval earned from the C l i n i c a l  Screening Committee For Research and Other Studies Involving H u m a n Subjects of the U n i v e r s i t y of B r i t i s h Columbia (REB), the Research Coordinating Committee of the B r i t i s h C o l u m b i a Women's H o s p i t a l and  59  H e a l t h Centre Society, the B r i t i s h Columbia's Children's H o s p i t a l Research Review Committee, and the U n i v e r s i t y of B r i t i s h Columbia's Department of M e d i c a l Genetics C l i n i c a 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 w i t h a surgical procedure of 16.4 weeks (95% C.I.= 16.1 - 16.7 weeks) was significantly different t h a n the average estimated gestational age at termination for cases terminated w i t h a medical procedure of 20.8 weeks (95% C.I. = 20.2 - 21.4 weeks).  Table 3.1  RESULTS OF CYTOGENETIC INVESTIGATIONS  Fetal Abnormality  Chromosomal Abnormalities  # of Cases Diagnosed  # of Cases At  % of Cases Diagnosed  Prenatally  Final Diagnosis  Prenatally  204  255  80.00%  Trisomy 21  1  83  89  93.25%  Trisomy 18  1  29  40  56.67%  21  29  72.50%  20  23  87.00%  17  32  53.10%  10  12  83.30%  24  30  80.00%  96  238  221  28  Trisomy 13  1  Translocations  2  Turner syndrome  1  Triploidy Other abnormalities  3  Normal Karyotype Unknown Karyotype  1  Includes mosaic cases  2  Balanced & unbalanced  Including 47, XXX, 47, XXY, Ring, idic, del, dup, inv, other trisomies, and C P M 3  Table 3.2  DISTRIBUTION OF PRENATAL CYTOGENETIC RESULTS BY METHOD OF TERMINATION  Method of Termination  Total # of Cases  Surgical Medical  300 221  Total  521  Figure 3.1 50  Total # of Cases With PND of: Abn. Karyotype Normal/Unknown Karyotype 145 155 59 162 204  317  DISTRIBUTION OF ESTIMATED GESTATIONAL A G E AT TERMINATION VS METHOD OF TERMINATION  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 Autopsy Findings Yes No  Total # of Cases 112 21  Total # of Cases With Medical TA Surgical TA 76 1  36 20  Odds Ratio  95% Confidence Interval  42.2  5.4- 327.0  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 likely to provide a diagnosis i n those cases terminated w i t h a surgical method that w i t h a medical method. The ability to base diagnoses on autopsy findings is decreased w h e n a pregnancy is terminated by a surgical method, as compared to a medical method.  3.4  Specific Tissue Examined At Autopsy Analysis I n 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 w i t h 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 w a 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. A n e n c e p h a l y w i t h associated a b n o r m a l spine anatomy was considered to be a m u l t i p l e malformation case. Table 3.4 DISTRIBUTION OF T H E CASES TERMINATED WITH SPECIFIC ULTRASOUND -IDENTIFIED OR -SUSPECTED F E T A L ABNORMALITIES Fetal Abnormality Total # of Total* of Odds 95% C.I. Fisher's exact Cases With Cases With Ratio* P Value Abn. Surg. TA Med. TA Abdominal Wall Defects  42  Not Examined Examined  20  22  8 12  0 22  30.60  1.63 - 575.84  0.00107*  Anencephaly Not Examined Examined  33  13 2 11  20 0 20  8.91  0.39 - 202.07  0.14773  Cystic Hygroma Not Examined Examined  67  51 37 14  16 0 16  146.18  7.97 - 2680.93  < 0.00001*  Cystic Kidney Disease Not Examined Examined  22  6 0 6  16 0 16  N/A  N/A  N/A  Diaphragm Defects Not Examined Examined  17  8 4 4  9 0 9  19.00  0.83 - 434.47  0.02941  Fetal Hydrops Not Examined Examined  44  24 4 20  20 0 20  9.00  0.45 - 178.12  0.13397  Structural Heart Defects Not Examined Examined  68  23 4 19  45 0 45  21.00  1.08 • 409.15  0.01087  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 F i s h e r exact tests were performed to test for independence between the  a b i l i t y to examine specific ultrasound-identified or -suspected abnormalities at autopsy a n d the method of t e r m i n a t i o n . A significant difference was found between the different t e r m i n a t i o n procedures and the frequency of cases i n  66  which abdominal w a 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 w a l l defects and cystic  hygroma at autopsy were 30.60 and 146.18 times, respectively, more likely for those cases terminated w i t h a surgical method t h a n w i t h 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 likely for those cases terminated w i t h a surgical method t h a n w i t h 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 w h i c h 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 w i t h 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 F E T A L ABNORMALITIES BY RESULTS OF PRENATAL CYTOGENETIC INVESTIGATIONS Fetal Abnormality  T o t a l # of Cases W i t h Surgical T A  A b d o m i n a l W a l l Defects  T o t a l * of Cases W i t h P N D of: A b n . Karyotype  N o r m a l Karyotype  20  2  18  Tissue N o t 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 N o t E x a m i n e d  2  0  2  Tissue E x a m i n e d  11  1  10  Cystic H y g r o m a  51  17  34  Tissue N o t E x a m i n e d  37  12  25  Tissue E x a m i n e d  14  5  9  Cystic K i d n e y Disease  6  1  5  Tissue N o t E x a m i n e d  0  0  0  Tissue E x a m i n e d  6  1  5  D i a p h r a g m Defects  8  0  8  Tissue N o t E x a m i n e d  4  0  4  Tissue E x a m i n e d  4  0  4  24  12  12  4  1  3  Tissue E x a m i n e d  20  11  9  S t r u c t u r a l H e a r t Defects  23  6  17  Tissue N o t E x a m i n e d  4  3  1  Tissue E x a m i n e d  19  3  16  Fetal Hydrops Tissue N o t E x a m i n e d  68  P r e n a t a l diagnosis of a chromosome abnormality was made i n 53 of the 230 cases, w i t h 36 and 17 of the chromosomally abnormal cases terminated by a surgical and medical methods, respectively. The distribution of surgically terminated cases w i t h specific ultrasound identified or suspected abnormalities by estimated gestational age at termination for cases terminated w i t h a surgical procedure is summarized i n table 3.6. Table 3.6 DISTRIBUTION OF SURGICALLY TERMINATED CASES WITH SPECIFIC ULTRASOUND-IDENTIFIED OR -SUSPECTED F E T A L ABNORMALITIES BY ESTIMATED GESTATIONAL A G E AT AUTOPSY Fetal Abnormality  T o t a l * of Cases  T o t a l * of Cases W i t h  With Surgical T A  E G A at A u t o p s y of: 10-14 wks  15-20 wks  21 - 24 w k s  20  2  15  3  Tissue N o t 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  13  2  10  1  Tissue N o t 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  A b d o m i n a l W a l l Defects  Anencephaly  Cystic H y g r o m a  51  21  29  1  Tissue N o t 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 N o t 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  8  1  7  0  D i a p h r a g m Defects Tissue N o t 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  11  13  0  4  2  2  0  Tissue E x a m i n e d  20  9  11  0  S t r u c t u r a l H e a r t Defects  19  2  Fetal Hydrops Tissue N o t E x a m i n e d  24  '  23  2  Tissue N o t 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 w i t h 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. T h i s 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 likely for those cases terminated w i t h a surgical method t h a n w i t h 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. T A Surg.TA  CNS Tissue Examined Not Examined  226 294  188 32  38 262  Heart Examined Not Examined  456 64  217 3  239 61  Kidneys Examined Not Examined  488 32  216 4  272 28  Odds Ratio  95% C.I.  36.20  21.77 - 60.19  O.OOOOl*  16.76  5.18 - 54.24  <0.00001*  5.04  1.74 - 14.61  <0.00048*  Chi square P-Value  *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 w h i c h 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 Total # of Cases Total # of Cases With P N D of: Tissue at Autopsy With Surgical TA Abn. Karyotype Normal Karyotype CNS Tissue Tissue Examined 38 10 28 Tissue Not Examined 262 135 127 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 i n section 3.6.  Figure 3.2 DISTRIBUTION OF SURGICALLY TERMINATED CASES BY ESTIMATED GESTATIONAL AGE AT TERMINATION 50  T  O i-H  C  N r-1  T  f .—I  C  O  O  O I  O  C CM  N  CN  T  f  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. M u l t i p l e logistic regression tests were performed w i t h 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 i n 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  Variable  Variable  P  1  Sig.  Odds Ratio  2  95% C.I. Lower  Upper  Probability of Surgical Termination  Normal Chromosomes EGA at Autopsy (weeks)  0.77 -0.33  0.0006 <0.0001  2.17 0.72  1.39 0.66  3.39 0.78  Abnormal Chromosomes EGA at Autopsy (weeks)  0.97 0.23  0.0142 0.0008  2.65 1.26  1.22 1.10  5.79 1.44  Abnormal Chromosomes EGA at Autopsy (weeks)  1.06 0.17  0.0008 0.0012  2.89 1.19  1.56 1.07  5.37 1.32  Examine The Kidneys EGA at Autopsy (weeks)  0.30  0.0001  1.35  1.15  1.58  Probability of Being Able To Examine The CNS Tissue at Autopsy Probability of Being Able To Examine The Heart at Autopsy Probability of Being Able To at Autopsy  !p is the explanatory variable coefficient calculated by SPSS statistical software. The odds ratio is calculated by exp and is the increment i n the log odds of the probability of the response attributed to the explanatory variable.  2  p  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 likely to occur when the results of the prenatal cytogenetic investigations are abnormal t h a n when the results are normal/unknown. F o r 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 likely 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 likely to occur i n surgically terminated cases when the results of the prenatal cytogenetic investigations are normal/unknown t h a n 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 loglikelihood 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 L value indicates the percentage by which the multiple logistic 2  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. I n a l l cases the models are statistically significant.  Table 3.10 RESULTS OF MULTIPLE LOGISTIC REGRESSION ANALYSIS - PART B Response  Initial  Model  Variable  -2 Log-likelihood  Chi-Square  Probability of Surgical Termination  613.33  102.66  16.74%  223.58  20.39  9.12%  280.21  25.12  8.96%  185.716  16.985  9.15%  Probability of Being Able To Examine The CNS Tissue at Autopsy Probability of Being Able To Examine The Heart at Autopsy Probability of Being Able To Examine The Kidneys at Autopsy  R L 2  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 embryofetopathology studies. A recent investigation (Kyle et al., 1996) has reported a posttermination karyotyping culture failure rate of 27% when fresh fetal tissues are studied. The high failure rate was found to be related to the deliverysampling 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 deliverysampling 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 posttermination 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 embryofetopathological examination due to the presence of anomalies not detected on ultrasound examination have been reported (Weston, et al., 1993; ShenSchwarz, 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 embryofetopathological 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; ShenSchwarz, 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 m a i n 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 w h i c h has been suggested to a i d the grieving of parents (Kenyon, et al., 1988; Suslak, et al., 1995). The m a i n disadvantages of a medical termination procedure is that the procedure requires labour and delivery; may be painful, although p a i n 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 t a k i n g less time and due to general or regional anesthesia, avoiding the p a i n involved i n medical procedures (Kaltreider, et al., 1979a). However, the m a i n 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 L value was calculated. An R L 2  2  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 i n 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 will 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 i n the  91  diaphragm, confers a susceptibility to fragmentation during surgical termination procedures. F i n a l l y , 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 likely due to the nature of the defect itself. Due to the absence of the c r a n i a l vault, it is likely 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 likely 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 w a l l may confer resistance to physical disruption. Between 9 - 24 weeks of gestation, the size of the kidneys ranges from 0.8 m m to 24.5 m m 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. F e t a l hydrops is m a r k e d 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 embryofetopathological 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 values 9.12%, 8.96%, and 9.15% for 2  L  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 l a m i n a r i a 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 utilization. Information regarding the utilization 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 i n the surgical termination procedures of cases terminated between J a n u a r y 1 of 1995 to J a n u a r y 1 of 1996 was st  st  available. This information was of limited 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 utilization 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 utility of embryofeto-pathological examinations following surgical pregnancy termination procedures. W h e n compared w i t h 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 t h a n w h e n the results were n o r m a l or unknown. This result indicates that the need for a complete embryofeto-pathological examination seems to be a meaningful element of the process by w h i c h couples choose between termination procedures. Surgical termination was found to be less likely 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 w a 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 w i t h prenatally diagnosed normal chromosomes and unkaryotyped fetuses to fetuses w i t h 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 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, these results indicate that there is a correlation between the extent of cervical dilation and the amenability of the products of conception to embryofeto-pathological examination.  101  The ability to base a diagnosis on autopsy findings was observed to be less likely following surgical termination procedures when compared to medical termination procedures. This result, as w e l l as the other results presented above, provide evidence that following surgical termination procedures, as compared to medical termination procedures, the amenability of the products of conception to embryofeto-pathological examination is reduced. This may have important clinical implications for women considering pregnancy termination following ultrasound diagnosis of fetal abnormalities.  102  References: A l t m a n , D . C . , E d . Practical statistics for medical research. London: C h a p m a n and H a l l , 1991. 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A m e r i c a n J o u r n a l of M e d i c a l 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  Pathology Chart No: Fetal Condition: Gestational Age: Multiple Gestation: _  Tissues Examined at Autopsy: CNS: G.I.: R p Heart: Musculo Skeletal: es  :  Investigations: Diagnosis:  Disorder Classification:  Vasculature: Urinary: Extremities: Placenta:  Appendix II  U l t r a s o u n d Findings  Code  EGA  EGA  Amniotic  No:  Dates  U/S  Fluid  Method Narrow oITA  Code  1  756.18  F e t a l S p i n e c a n n o t b e c l e a r l y identified s u g g e s t i n g a b s e n t o s s i f i c a t i o n  1  228.1  C y s t i c H y g r o m a Is Identified  1  756.08  Calvarium Appears Poorly Ossified  1  756.44  Imp: P r o b a b l e 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  Transcervical C V S  1  N o E v i d e n c e of F e t a l A n o m a l i e s  740.02  15  Diagnosis:  15  A n e n c e p h a l i c F e t u s is P r e s e n t N o Other Anomalies  Detected  32 + 3  3 2 + 2 wk  32 + 3  32 + 2 w k  754.88  Trunk »  32 + 3  3 2 + 2 wk  778.0  Massive Ascites  32 + 3  32 + 2 w k  778.0  H y d r o p s Still P r e s e n t  32 + 3  32 + 2 w k  748.69  R Lung Compressed  32 + 3  3 2 + 2 wk  778.5  Marked Scalp Edema  32 + 3  32 + 2 w k  511.9  Large R S i d e d Pleural Effusion  32 + 3  32 + 2 w k  778 5  Marked Ascites  Absent End Diastolic Flow on Doppler 90%centile due to  F e t a l S i z e C o r r e s p o n d s to D a t e s  C V S Transabdominally  18+ 1 wk  745 63  A V C a n a l D e f e c t - 2 A V V a l v e s + Outflow A p p e a r s N  18 + 1 w k  755.50  A b s e n t M i d d l e P h a l a n x 5th Digit Short Femur  18 + 1 w k  C a r d i a c Defect Not of Lethal Nature  1 8 + 1 wk  755.38  19  1 8 + 1 wk  756 os  Flat O c c i p u t  19  1 8 + 1 wk  753.20  Moderate R Hydronephrosis  16 + 5  C a r d i a c S t r u c t u r e s d o not a p p e a r n o r m a l but t o o e a r l y t o a s s e s s  16 + 5  746 so  16 + 5  Heart in R C h e s t Fetal Size is Consistent With Dates  16 + 5  L Thorax O c c u p i e d by S t o m a c h and B o w e l  16 + 5  756.68  R H e m i d i a p h r a g m a p p e a r s intact  16 + 5  753.20  Bilateral Dilatation of R e n a l Pelvis  16 + 5  L H e m i d a p h r a g m not D e m o n s t r a t a b l e  2 cm Posterior W a l l Fibroid 762.8  Moderate Sized Area of Membrane  Seperation  Transcervical C V S  10 + 4  L a r g e F i b r o i d 10 x 10 c m L s i d e of U t e r u s In L o w e r S e g . btwn fetus & c e r v i x - P o s s i b l e risk for o b s t . of l a b o u r  10 + 4  C V S for D N A S t u d i e s O n l y  15 +  16 + 1 w k  15 +  16 + 1 w k  742.9  S p i n e a n d Intracranial D e t a i l A p p e a r N o r m a l No Anomalies Seen  10 + 6  F e t a l S i z e C o r r e s p o n d s with D a t e s  11  785 D  Fetal Tachycardia  11  744.68  Nuchal Thickening  11+2  778.5  Generalized Subcutaneous Edema  10  F e t a l S i z e C o r r e s p o n d s with D a t e s  13 + 4  Transcervical C V S  12  778.0  12  S e v e r e Hydrops Probable Chromosomal Anomaly  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 V a r i a n t of N o r m a l )  753.20  Mild Bilateral Hydronephrosis  742 s  N o O t h e r Intracranial of S p i n a l A n o m a l i e s S e e n  742.48  S p l a y i n g of the C e r e b e l l u m  742.39  Mild V e n t r i c u l o m e g a l y  742 48  E n l a r g e m e n t of C i s t e r n a M a g n a  Size = Ultrasound Dates  27 + 3  754 82  27 + 3  751 6  L i v e r E c h o g e n i c i t y Mildly I n c r e a s e d - ? E a r l y F i n d i n g  27 + 3  761.2  S e v e r e Oligohydramnios  F e 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 N o r m a l )  112  U l t r a s o u n d Findings  Appendix II EGA  EGA  Amniotic  Method Narrow  Diagnosis:  Dates  U/S  Fluid  of TA  27*3  26  4  2  K i d n e y s D o Not A p p e a r G r o s s l y E n l a r g e d , K i d n e y s difficult to s e e a s b o r d e r s indi  12 + 6  13+1  ,  ,  T o o early for g o o d a n a t o m i c d e t a i l  12 + 6  13+1  1  1  N o e v i d e n c e of significant n u c h a l e d e m a (2mm) or o t h e r a b n . for g e s t . a g e  12 + 6  13+1  1  1  12 + 6  13* 1  14-15  14-15  1  Code:  G e n e t i c A m n i o c e n t e s i s , s i n g l e t a p for c l e a r fluid ( F H +ve after) 762.8  T h e a m n i o n a p p e a r s t o still b e s e p e r a t e d circumferentially  Fetus, Fluid, P l a c e n t a Normal  16  3  1  753.8  16  3  1  753.3  Kidney's S e e n  16  3  1  761.2  Moderate Oligohydramnios  14  , '  14  ,  Bladder S e e n  T o o E a r l y to E v a l u a t e F e t a l D e t a i l Genetic Amniocentesis  1  16  ,  ,  16  1  1  16  1  10 + 1  ,  4  Fetal S i z e C o r r e s p o n d s with Menstral Dates  15 • 1  1  2  Fetal S i z e Consistent with D a t e s  764.9  F e t a l B i o m e t r y at - 1 0 % c e n t i l e for G e s t A g e F e t a l D e t a i l limited due t o fetal s i z e F e t a l D e t a i l limited d u e t o m a t e r n a l b o d y w a l l  16+1  15 + 1 w k  1  2  A p p a r e n t l y N o r m a l G e s t a t i o n at 1 5 + 1 w k b y U / S  16  16 + 1 w k  <  '  No Anomalies Seen  16*2  1  2  741.01  Probable Mild, Symmetrical  16 + 2  1  2  741.01  A s s o c i a t e d Arnold-Chiari Malformation  16*2  1  2  755.6  16 + 2  1  2  16*2  1  2  12 + 3  1  1  S u c c e s s f u l Eariy Amniocentesis  12 + 3  ,  1  Fetal S i z e C o r r e s p o n d s with Menstral Dates  20 + 1  1  2  20 + 1  1  2  20 + 1  1  20 + 1  Hydrocephalus  L o w e r L i m b s A p p e a r to m o v e A c t i v e l y No Other Fetal Abnormalities  741.01  A High Thoraco-Lumbar  Meningomyelocele  511.9  Bilateral Pleural Effusions  2  778.5  Generalized Subcutaneous Edema  1  2  778.5  Mild A s c i t e s  10 + 3  1  1  F e t a l S i z e C o r r e s p o n d s to D a t e s  10 + 3  <  '  Successful C V S  10 + 5  1  2  F e t a 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 Activity T e s t s on C V S tissue  16  1  2  16  1  2  740.08  16  1  2  742.09  Encephalocele Present  16  1  2  742.58  Abnormal Appearing Spine  22  1  1  753,16  Small Echogenic and Dysplastic Kidneys  22  1  1  740.01  Acrania  22  1  1  511.9  R Pleural Effusion  22  1  1  749.12  M i d l i n e Cleft L i p  22  1  756.15  H e m i v e r t e b r a e at T 1 2  10 + 5  1  1  Internal O r g a n s A p p e a r N o r m a l a n d C o m p l e t e  Likely Abnormal Heart  1  13 + 4  12 + 5  2  4  13*4  12 + 5  2  4  13 + 4  12 + 5  2  4  13 + 4  12 + 5  2  4  13 + 4  12 + 5  2  4  Calvarium Not Found  Fetal S i z e C o n e s p o n d s with Menstral Dates  761.2  Mild Oligohydramnios Probably N Growth B a s e d on L M P 13 wk S i z e d F e t u s  778,0  F e t u s with upto 5 m m T h i c k G e n e r a l i z e d T i s s u e E d e m a C o n s i s t e n t with H y d r o p s Detailed Fetal Anatomy Not Y e t Readily A s s e s s a b l e  15  1  1  15  1  1  754.20  Marked Scoliosis  15  1  1  756.18  S p i n e D e f e c t i v e from l o w e r t h o r a c i c s e g m e n t s d o w n  15  1  1  754.22  Hyperextension of the T h o r a c i c R e g i o n  10  1  1  Fetal Size Corresponds With Menstral Dates  F e t a l Intracranial S t r u c t u r e s Difficult t o A s s e s s D u e to P o s i t i o n  16 + 2  1 5 + 1 wk  1  2  Genetic Amniocentesis  16 + 2  15 + 1 wk  1  2  No Anomalies S e e n Today  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  114  Ultrasound Findings  Appendix II Method Narrow  Diagnosis:  Code  EGA  EGA  Amniotic  No:  Dates  U/S  Ftud  of TA  Code.  16  1  1  753 3  16  1  1  16  1  1  741.94  741.98  Lumbosacral Meningomyelocele  764.9  S l o w F e t a l G r o w t h at 1 0 % c e n t i l e f o r d a t e s  Fetal Kidneys are Poorly S e e n C a r d i a c S c a n , Ail V e i n s S e e n a n d A p p e a r N o r m a l L o w e r E n d o f S p i n e Is N o t 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. S m a l l S a c r a l S p i n a Bifida)  sues 17  15+1wk  1  17  15 + 1 w k  1  1 1  17  15 + l w k  i  1  17  16 + 1 w k  2  2  778.5  Ascites Present  17  16 + 1 w k  2  2  778 0  Generalized Severe Hydrops  2  2  15 + 2  i  2  744.88  W e b P o s t e r i o r t o t h e N e c k S e e n i n 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 ( O b s t r u c t i v e J u g u l a r L y m p h a t i c S y n d . a s s o c i a t e d with c o n g . a n o m a l i e s  Extremities Appear Normal  31261  17  16+1wk  No Other Anomalies S e e n  33277  31281 16  15 + 1 wk  1  2  16  15 + 1 w k  1  2  16  15 + 1 w k  1  2  Genetic Amniocentesis ' 744.9  Fetal F a c e Not Adequately A s s e s s e d T o d a y 4 C h a m b e r H e a r t V i e w Not A d e q u a t e l y A s s e s s e d T o d a y  35420 18 + 2  1  1  742.39  M i d l i n e S t r u c t ' s not u n d e r p r e s s u r e s u g g e s t i n g 1 ° deform'n p r o b l e m a s o p p o s e d to o b s t r u c t i v e  18 + 2  i  1  758.10  Imp: C h r o m o s o m e A n o m a l y ? T 1 3  18 + 2  1  ? Possible Absent Vermis  1  742.23  ? Possible Absent Cerebellum  18 + 2  i  18 + 2  i  18 + 2  1  1 1 1 1  742.28  18 + 2  17 + 6 17 + 6  742.39  S e v e r e Ventriculomegaly  756.08  H e a d Enlarged - 21-22 wks in size  1  742.48  No Posterior Brain Structures S e e n  1  2  741.05  Lower Lumbar Meningocele  1  3  741.05  Evidence of Hydrocephalus  20 + 3  4  2  753.3  N o Obvious Renal Structures S e e n  20 + 3  i  2  20 + 3  4  2  20 + 3  4  2  761.2  N o A m n i o t i c Fluid P r e s e n t  20 + 3  4  2  754 82  Chest Severely  20 + 3  4  2  778.0  M a s s i v e Fetal Ascites  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 t h e S p i n e L o o k e d N o r m a l  21  4  3  761.2  S e v e r e Oligohydramnios  21  4  3  742.48  Abnormal Posterior F o s s a  21  4  3  742.39  Intracranial D e t a i l Is A b n o r m a l with E n l a r g e d V e n t r i c l e s  21  4  3  742.48  Banana Sign - Cerebellum  21  4  3  756.08  Lemon Sign  3  753.16  F e t a l K i d n e y s B i l a t e r a l l y A p p e a r D y s p l a s t i c w i t h Multiple S m a l l C y s t s ( P o t t e r s T y p e IV) Imp: M C A - L e t h a l O u t c o m e  35439  35444  S p e c i f i c D i a g n o s i s N o t P o s s i b l e - s u g g e s t a u t o p s y following d e l i v e r y S e v e r e Fetal Anomalies, Lethal anomalies s e e n  Compressed  35468  35470  21 21  4  3  759.7  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  Possible ? Sirenomelia  21  4  3  759.84  L o w e r L i m b s N o t D e m o n s t r a t e d to M o v e S e p e r a t e l y ( ? F u s e d )  2  228.1  Posterior Nuchal Hygroma  2  758.69  Imp: L i k e l y T u r n e r s ( o r N o o n a n ' s )  2  778.5  M i l d E d e m a (probably e a r l y h y d r o p s )  753.9  C y s t i c M a s s i n L o w e r A b d . a n d B l a d d e r (prob. e n l a r g e d bladder 2 ° to l o w e r G . U . T . O b s t r u c t i o n  35478 14  12 + 5  14  12 + 5  14  12 + 5  1 1 1  14  12 + 5  i  2  1  1  i  2  742.48  742.48  35613 11+5  Fetal Size Corresponds With Menstral Dates  31611 16  15.5+1wk  Multiple S m a l l C y s t i c S p a c e s i n B o t h C h o r o i d P l e x u s e s (largest 3mm)  31631 17  1  2  17  1  2  17  i  2  755.61  L Foot Not S e e n  2  755.38  L L o w e r L e g - Tib/Fib Half Normal Length  2  754.73  R L e g - Club Foot  1 1  740.02  Anencephaly  744.88  Nuchal Edema  764 9  Limb Length 2 w k s behind dates  1 1  17 17  Bilateral Small C h o r o i d Plexus C y s t s No Other Anomalies S e e n  35635 16  15+1wk  1  16  15 + 1 w k  1  No Other Anomalies S e e n Today  D o p p l e r f o A V v a l v e s Difficult B e c a u s e o f M o v e m e n t o f F e t u s  745 63  Possibility o f Small A V S e p t a l Defect  746.88  Pericardial Effusion  29  G e n d e r Not S e e n  29  MuRicystic Dysplastic Kidneys  29  No Bladder S e e n  Remains  hydroceph.  Appendix I I  Ultrasound Findings  EGA  EGA  Dates  U/S  Amniotic Fluid  Method Narrow of TA  115  Diagnosis:  Code: 761.2  Severe Oligohydramnios,  AFI = 0  16 + 3  1  740.02  W h a t L o o k s Like Anencephaly  16 + 3  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 r u c t u r e s & S p i n e A p p e a r N o r m a l  16 + 4  756.08  Head - Lemon Sign  16 + 4  742 48  Cerebellum - Banana Sign  16 + 4  741  Sacral Meningocele  16 + 4  741.01  S u s p i c i o u s for A m o l d - C h i a r i M a l f o r m a t i o n  74001  V a r i a n t o f A c r a n i a , with a b s e n c e o f p a r i e t a l a n d o c c i p i t a l skull b o n e s  No Other Anomalies S e e n B r a i n S t r u c t u r e s A p p e a r to B e P r e s e n t  18 + 1 w k  741.01  C h a n g e In S h a p e o f C e r e b e l l u m to S u g g e s t A s s o c i a t e d A m o l d - C h i a r i M a l f o r m a t i o n  18 + 1 w k  741.01  Mild Hydrocephalus is Present  18 + 1 w k  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  1 8 + 1 wk  741.06  A Lower Sacral Meningocele is Present No Other Anomalies Are S e e n  18+ 1 wk  753.01  L K i d n e y not s e e n  761.2  S e v e r e Oligohydramnios  753.16  R F e t a l K i d n e y E n l a r g e d w i t h Multiple C y s t s  21 + 2 w k s  754.78  ? eversion L Foot  21 + 2 w k s  753 20  L Fetal Hydronephrosis  22 + 3  21 + 2 w k s  755 52  L wrist s e e m s to be flexed o v e r f o r e a r m  22 + 3  21 + 2 w k s  755 51  H a n d s not s e e n o p e n i n g during the s c a n  21 + 2 w k s 21 + 2 w k s  Profile not w e l l s e e n t o d a y 754 78  R F o o t a p p e a r s fixed in d o r s i f l e x i o n  All L o n g B o n e s A b n o r m a l l y S h a p e d 23  Imp: L i k e l y T h a n a t o p h o r i c D w a r f i s m  23  No Other Anomalies S e e n F e t a l S i z e A p p r o p r i a t e for D a t e s  23  754.82  23  756.08  Severely Constricted Chest Frontal B o s s i n g ATI L o n g B o n e s 2 0 m m , - 16 w k s s i z e Mild Oligohydramnios  Fetal S i z e C o r r e s p o n d s with Menstral Dates  17  15 + 1 wk  764.9  I U G R - 2 w k s b e h i n d in g r o w t h  17  1 5 + 1 wk  778.0  Generalized Mild Fetal Hydrops  17  1 5 + 1 wk  761.2  Moderate Oligohydramnios  20  764.9  F e t a l S i z e at 1 0 t h % c e n t i l e for D a t e s  20  778.0  Ascites  20  761.2  Mod.-Severe Oligohydramnios  20  778.0  Hydropic Fetus  20  228.1  S e v e r e C y s t i c H y g r o m a , Multiple, L a r g e Fluid Filled S t r u c t u r e s u r r o u n d i n g n e c k a n d c h e s t  20  778.5  Skin Edema  22  C i s t e m a M a g n a is prominent but m e a s u r e within n o r m a l r a n g e  22  C a r d i a c S c a n : R Atrium + V e n t r i c l e »  22  1 c m d i a m e t e r bilateral c h o r o i d p l e x u s c y s t s  22  Cerebellum Appears Normal  t h a n L , p r o b a b l y c o m p r e s s i o n defect r a t h e r t h a n  22  C a r d i a c S c a n : Outflow t r a c t s a p p e a r N  22  Cardiac S c a n : Mediastinal Structures Displaced to R  22  L Fetal Kidney Today Appears Multicystic  22  structural  C o r d o c e n t e s i s - S i n g l e Attmept w a s S u c c e s s f u l / F H +ve after  22  756.61  D i a p h r a g m a t i c H e r n i a - 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 H e a r t is D i s p l a c e P o s t e r i o r l y to right  22  753.20  F e t a l R e n a l P e l v e s a r e P r o m i n e n t w i t h the L > R  22  753.01  R K i d n e y Difficult to S e e D u e to F e t a l P o s i t i o n  18+1  16 + 1 w k  N o O t h e r F e t a l A n o m a l i e s Identified  18+1  16 + 1 w k  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 r e s e n t ( H y g r o m a 3 4 x 14 mm)  C V S , Transabdominal - Successful  26-29  No Other Anomalies S e e n  26-29  742.39  Imp: H y d r o e n c e p h a l y or S e v e r e H y d r o c e p h a l y  26-29  764.9  Fetal A g e by Femur - 26 w k s  26-29  764.9  F e t a l A g e b y Trunk S i z e - 2 9 w k s  26-29  742.28  N o C o r t i c a l T i s s u e Identified  26-29  742.39  S e v e r e Dilation of Both Ventricles  Appendix II  Ultrasound Findings  EGA  EGA  Dates  U/S  Amniotic Fluid  Method Narrow of TA  22  Diagnosis:  Code: 7612  22  S e v e r e Oligohydramnios A m n i o c e n t e s i s - 2 n d Attempt - m i n . a m i o f fluid, d i s c o n t i n u e d d u e to patient i n t o l e r a n c e  20 + 3  21 + 2 w k s  756 08  20 + 3  21 + 2 w k s  755 61  P r o b a b l e R o c k e r b o t t o m Deformity i s s u g g e s t e d , L foot  20 + 3  21 + 2 w k s  754 73  C l u b f o o t , R fOOt  20 + 3  21 + 2 w k s  751 5  R C o l o n i s D i s t e n d e d w i t h Fluid  20 + 3  21 + 2 w k s  553.1  Defect is an Omphalocele rather than Gastroschisis (Aid Wall Oef is Present) liver a small bowel si n to lie outside the al  511.9  Small Pleural Effusions  T h e H e a d Could Not B e S e e n W e l l  778.0  Ascites  778 5  Moderate S e v e r e Skin E d e m a  228 1  Severe Cystic Hygroma No Other Anomalies S e e n  Amniocentesis  Fetal Cardiac, Spinal a n d Other Anatomy Appear Normal 553 1  A M o d e r a t e to L a r g e O m p h a l o c e l e i s P r e s e n t with t h e L i v e r a n d s o m e o f t h e s m a l l b o w e l e x t r u d e d  19+ 1 wk  742 39  S e v e r e Hydrocephalus  16 + 2  11 + 4 d  778 5  S e v e r e S k i n E d e m a Involving t h e Entire F e t u s  16 + 2  11 + 4 d  228.1  Large Cystic Hygroma Present  16 + 2  11 + 4 d  764 9  F e t a l S i z e D o e s N o t C o r r e s p o n d to D a t e s  27  23-24  764.9  27  23-24  745 59  27  23-24  746.1  Abn Tricuspid Valve  27  23-24  75248  ? Ambiguous Genitalia  27  23-24  747.5  2 Vessel Cord  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  Spine 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 Fetal Skull (Acrania)  13 + 3  14+1  wk  ,  2  744.88  13 + 3  14+1  wk  17 + 2  19+1  wk  ,  17 + 2  19+1  wk  i  17 + 2  19 • 1 wk  17 + 2  19 + 1 wk  17 + 2  19 + 1 wk  1  17 + 2  19 + 1 wk  i  17 + 2  19 + 1 wk  19+ 1 wk  No Other Anomalies S e e n  2  Fetal Size 2 3 - 2 4 wks, S e v e r e ASD  N u c h a l E d e m a w i t h a P r o m i n e n t S k i n L i n e That E x t e n d s A l o n g t h e S p i n e A d n e x a l M a s s i s S e e n (Incidental F i n d i n g , M a t e r n a l )  1  742.30  Imp: O b s t r u c t i v e L e s i o n of t h e A q u e d u c t of S y l v i u s  742.5  S p i n e A p p e a r s Intact  i  1 1  1  1  747.5  20  1 1  4 C h a m b e r a n d S h o r t A x i s V i e w of H e a r t A p p e a r s N o r m a l 2 Vessel Cord is Seen  742.39  C e r e b r a l M a n t l e 0 . 5 c m i n t h i c k n e s s (thin)  742.39  3rd V e n t r i c l e i s A l s o D i l a t e d with a D i a m e t e r of 0 . 3 c m  1  742.39  S e v e r e D e g r e e of S y m m e t r i c H y d r o c e p h a l u s P r e s e n t ( L V R - 7 7 % )  2  778.0  Ascites Appear Increased From Yesterday  20  i  2  789.3  A s p i r a t i o n of F e t a l Intra-Abdominal C y s t ( ? B l a d d e r , ? U r a c h a l C y s t )  20  1  2  No P e r i c a r d i a l Effusion S e e n T o d a y  ?  19+1  wk  ,  2  ?  19+1  wk  i  2  755.88  Abnormally S h a p e d L L o w e r L e g B o n e  ?  19+1  wk  1  2  742.39  Moderate Hydrocephalus  1  1  11+6  No Other Anomalies S e e n  Fetal Size Corresponds T o Menstral Dates  18 + 2  16 + 6  3  1  761.2  M i l d to M o d . O l i g o h y d r a m n i o s  18 + 2  16 + 6  3  1  764.9  Severe Asymmetric IUGR  17 + 2  1  2  741.01  Small Sacral Meningocele  17 + 2  1  2  741.01  Mild Hydrocephalus  17 + 2  1  2  741.01  Arnold-Chiari Malformation  18  ,  2  778 0  Mild Fetal Generalized Hydrops  18  1  2  427,8  F r e q u e n t 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  A b n o r m a l l y T h i c k P l a c e n t a (5cm)  18  1  2  18  1  2  746 99  Abnormal Heart  18  1  2  553.1  Small Omphalocele  2  764.9  All L o n g B o n e s a r e < 1 0 % c e n t i l e ( 1 5 - 1 6 w k s i z e )  18  Imp: V e r y Likely C h r o m o s o m e A n o m a l y  12 + 6  <  4  12 + 4  <  1  228.1  17  4  ,  753.00  17  4  1  Fetal S i z e C o r r e s p o n d s with Menstral D a t e s  C y s t i c H y g r o m a - c y s t i c s t r u c t u r e e x t e n d i n g from t h e o c c i p u t to midthorac  Imp: B i l a t e r a l R e n a l A g e n e s i s Unable to S e e Any Fetal R e n a l Structures  Ultrasound Findings  Appendix II EGA  EGA  Amniotic  Dates  U/S  Fluid  Method Narrow ofTA  Diagnosis:  Code: 761.2  S e v e r e Oligohydramnios  17  756.79  Fetai Abdomen is Distended  17  778.0  Substantial Ascites  511 9  Pleural Effusion  778.5  S u b s t a n t i a l L y m p h E d e m a in the Trunk  228.1  Substantial C y s t i c Hygroma Behind the N e c k and Cranium  17 + 5  16 + 1 w k  N o O t h e r A n o m a l i e s W e r e S e e n A l t h o u g h D e t a i l e d F e t a l C a r d i a c U / S S h o u l d B e D o n e at - 18 w k s  17 + 5  16 + 1 w k  Afid. Wei Defect {? Omphalocele) seen today. It's wel circumscribed & meas. 13x15x16 cm & doasni contain tvar. spleen or stomach  17 + 5  16 + 1 w k  2 week discrepancy between U / S size and Menstral Dates  742.5  13 + 5 13 + 5  S p i n e Not Identifiable A P u l s a t i n g S t r u c t u r e (heart)( 152/min) is s e e n in w h a t a p p e a r s t o b e h a n g i n g o u t s i d e  755.88  4 L i m b s S e e n G r o s s l y A b n * S h o r t L o n g 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 N o r m a l in S h a p e N o N o r m a l A b d o m i n a l O r g a n s Identified  S e v e r e Oligohydramnios N o r m a l F e t a l G r o w t h for D a t e s R e e v a l u a t i o n for 2 1/2 hrs failed to s h o w r e n a l t i s s u e 753.00  Imp: R e n a l A g e n e s i s  753.8  R e e v a l u a t i o n for 2 1/2 hrs f a i l e d to s h o w bladder  20 + 2 wks  No Other Anomalies S e e n  21  20 + 2 wks  Mild R Club Foot  21  20 + 2 wks  M e n i n g o m y e l o c e l e ( L a r g e S p i n a l D e f e c t , R e a c h i n g from T 1 2 to S a c r u m )  21  20 + 2 wks  S e v e r e L Club Foot  Successful C V S ? F i b r o i d ( 5 . 5 x 5 x 3 . 5 cm) s e e n in p o s t , a s p e c t o f uterus just a b o v e C x  16 + 1 w k  Nuchal A r e a is Thickened  16 + 1 w k  S m a l l A r e a That L o o k s C y s t i c a n d P r o b a b l y R e p r e s e n t s a s m a l l C y s t i c H y g r o m a  16 + 1 w k  The Heart Could Not B e S e e n W e n T o d a y  16 + 1 w k  N o Other Fetal Anomalies S e e n Today  F e t a l S i z e A p p r o p r i a t e for D a t e s  19 + 3  761.2  19 + 3  771,2  19 + 3  S e v e r e Oligohydramnios Imp: S u g g e s t V i r a l Infection +/- C h r o m o s o m a l A n o m a l y N o o b v i o u s L i m b , S p i n a l , (?), or R e n a l A n o m a l i e s  19 + 3  17  742,23  S m a l l C e r e b e l l u m (12 m m o b s . v s 1 9 mm exp.)  19 + 3  17  742.39  Prominent C e r e b r a l Ventricles ( ? Early Ventriculomegaly)  19 + 3  17  Pericardial Effusion  19 + 3  17  Small Bilateral Pleural Effusions  19 + 3  778.0  Considerable Fetal Ascites  751.88  Hepatosplenomegaly  24 + 3  778.5  Scalp Edema  24 + 3  778.0  Ascites, etc...  24 + 3  778.0  Significant i n c r e a s e in H y d r o p s  24 + 3  779.9  N o F H or M o v e m e n t s  24 + 3  779.9  Imp: Intrauterine D e m i s e  S i z e A p p r o p r i a t e for d a t e s  C V S - First Attempt S u c c e s s f u l  20  753.34  20  F e t a l K i d n e y s > 9 0 t h % c e n t i l e for d a t e s Kidneys Very Echogenic  20  753.8  20  761.2  S e v e r e Oligohydramnios  20  762.2B  2 P l a c e n t a l C y s t s - 2 c m in d i a m e t e r w i t h e c h o g e n i c a r e a i n s i d e  12 + 6  11  12 + 6  11 + 3 d  +3d  No Bladder S e e n  N o r m a l G r o w t h a n d Fluid Soft T i s s u e E d e m a s u r r o u n d i n g t h e e n t i r e f e t u s , c o n s i s t e n t w i t h h y d r o p s  Genetic Amniocentesis  N o Other Demonstratable A b n 23 + 2  755.20  23 + 2  755,39  R u d i m e n t a r y & D i s o r g a n i z e d L o w e r L i m b s , Bilaterally  23 + 2  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 Tib/Fib w e r e clearly s e e n o n o n e side of the fetus  23 + 2  747,5  2 V e s s e l C o r d is P r e s e n t  23 + 2  753.32  Fetal Kid. maybe more intenor intocofnraising the poss. of Horseshoe Kid, (more medial loc of infr poles than their sup'i  Complete A b s e n c e of Both Upper Limbs  740.08  N o Evidence of a Normal Cranium  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 a b n . w i t h w i d e n i n g o f i n t e r p e d i c u l a r d i s t a n c e n e a r t h e b a s e o f the skull  117  Appendix II  Ultrasound Findings  Code  EGA  EGA  No:  Dates  U/S  Amniotic  Method Narrow  Diagnosis:  Fluid  or TA  Code:  15+6  1  1  742.48  Cerebellum S h o w s B a n a n a Sign consistent with C a u d a l Herniation  15+6  1  1  741.94  S m a l l S a c l o w o n s a c r u m , c o n s i s t e n t with s m a l l s a c r a l s p i n a bifida  740.02  Anencephalus  36992  36993  19  18  1 1 1  ?  20 + 2  1  ?  20 + 2  1  ?  20 + 2  1  19  18  19  18  18 W k S i z e d F e t u s  2 2  No Other Anomalies S e e n  2  37114  1 1  742.26  Imp: ? L o b a r H o l o p r o s e n c e p h a l y / 7 V a r i a t i o n o f Norma) A n a t o m y  742.48  Prominent C h o r o i d P l e x u s Bilaterally  1  742.48  Prominent Cortical Structure Bridging Midline Anteriorly  37134 16 + 6  1  2  16 + 6  1  2  744.88  Nucha! Edema  16 + 6  1  2  553.1  Small Omphalocele  16 + 6  1  2  756.17  Sacral C o c c y g e a l Teratoma  16 + 6  1  2  Imp: R i s k o f C h r o m o s o m a l E t i o l o g y 2 0 - 3 0 %  Not A b l e to V i s u a l i z e 4 C h a m b e r H e a r t s o m a y h a v e C H D a s w e l l  37154 12  11+3  1  12  11+3  1  1 1  12  11+3  1  1  778.5  Generalized Subcutaneous Edema  778,0  S o m e S u g g e s t i o n o f Fluid i n C h e s t C a v i t y  228.1  Confirmed C y s t i c Hygroma  37164 12 + 3  '  12 + 3  1  11  12 + 5  1  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 r e s e n t B e g i n n i n g at - L 2 a n d c o n t i n u i n g to S a c r u m  19  1 8 + 1 wk  1  1  742.48  C e r e b e l l u m D e f o r m e d H e r n i a t e d into F o r a m e n M a g n u m  19  1 8 + 1 wk  1  1  756.08  Head Shape Also Abn - Lemon Sign  19  1 8 + 1 wk  1  1  754.50  At L e a s t O n e F o o t w i t h T a l i p e s E q u t n o v a r u s  18  1 7 + 1 wk  1  1  742.08  4 x 8 mm posterior encephalocele, n o neural tissue s e e n  18  17 + 1 w k  1  1  18  1 7 + 1 wk  1  1  Fetal Size Appropriate For Dates  1  1  228.1  Cystic swelling, consist, c CysOc Hygroma, in post (dorsal) aspect offetalhead that eidandeds to the level of the abd. (post.)  $7166 Successful C V S  37132  No Other Anomalies S e e n Intracranial S t r u c t u r e s A p p e a r N o r m a l  37304 14  1  14  1  14  1  14  1  14  1  17 + 5  1  17 + 5  1  1 1  778,0  Generalized Fetal Hydrops  511.9  Pleural Effusions  778.5  Generalized Skin Edema  778.5  Ascites  1  746,88  Pericardial Effusions  1  1 1  742.00  744.88  1  37326 N o other anomalies s e e n L a r g e E n c e p h a l o c e l e i n O c c i p i t a l A r e a i n w h i c h m o s t o f t h e p o s t e r i o r brain structure a r e h e r n i a t i n g  37327 16  17 + 1 w k  1  2  16  17 + 1 w k  1  2  22 + 3  1  2  756.08  D e p r e s s e d N a s a l Bridge  22 + 3  1  2  764.9  C h e s t C i r c u m f e r e n c e < 5 % c e n t i l e for G e s t a t i o n a l A g e  22 + 3  1  2  755.88  F e m u r , H u m e r u s , T i b i a , + F i b i a a r e all short  22 + 3  1  2  756.08  Frontal B o s s i n g  22 + 3  1  2  756.44  P r o b a b l e T h a n a t o p h o r i c D w a r f i s m with short c h e s t a n d limbs  28  4  2  28  4  2  753,16  Unilateral Large C y s t i c Dysplastic Kidney  28  4  2  Normal Fetal Growth  28  4  2  Amnioinfusion  28  4  2  761.2  P r o s t t n Injection w i t h s o m e difficulties d u e to s e v e r e o l i g o h y d r a m n i o s  20  4  2  753,00  No Kidneys - R e n a l A g e n e s i s Likely  20  4  2  761.2  Severe OPgohydramnios  19 + 6  1  2  744.88  Abnormal Nuchal Thickening  19 + 6  1  2  19 + 6  1  2  524.0  19 + 6  1  2  755.88  F o o t M o v e m e n t s S e e n - B o t h T h i g h s a p p e a r t o b e In f i x e d flexion  19 + 6  1  2  754.22  A c u t e A n g u l a t i o n 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  19 + 6  1  2  753,20  Bilateral Mild Fetal Hydronephrosis  21+4  2  2  764.9  H e a d Circumference < 5%centile  21+4  2  2  553.1  Small Omphalocele  21+4  2  2  21+4  2  2  746.80  Thorax s h o w s Heart Displaced to R  21+4  2  2  21+4  2  2  742.39  C r a n i a l v e n t r i c l e s a p p e a r prominent ( ? E a r l y V e n t r i c u t o m e g a l y ) with d e p e n d e n t p o s i t i o n to c h o r o i d p l e x u s  21+4  2  2  756.61  Diaphragmatic Hernia  21+4  2  2  756.08  A b n . H e a d S h a p e , E l o n g a t e , B i l a t e r a l P a r i e t a l Indentations  S k i n o v e r t h e p o s t e r i o r n u c h a l r e g i o n i s prominent N o other a n o m a l i e s a r e s e e n  37341  37370 Cordocentesis  37392  37397  No Other Anomalies S e e n Mild Micrognathia  N o r m a l F i n g e r s / F e e t / C o r d / C o r d Insertion  37399  C y s t i c Structure in L Thorax, ? B o w e l , ? S t o m a c h  Probable Chromosomal Anomaly  118  Appendix II  Ultrasound Findings  Code  EGA  EGA  No:  Dates  U/S  Amniotic  Method Narrow  Fkjid  ol TA  1  1  Diagnosis:  Code:  31406 16 + 2  17 + 1 w k  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  18 + 3  1 6 * 1 wk  1 1  1  778.5  Marked Generalized Fetal Skin Edema  1  228.1  Large C y s t i c H y g r o m a with Colli Present  742.5  S p i n e not w e l l s e e n d u e to fetal p o s i t i o n  nen 16 + 1  1  2  16 + 1  1  2  No Fetal Abnormalities S e e n  16+ 1  1  2  N o r m a l G r o w t h a n d Fluid  31616  1 1 1  15*5 15 + 5 15 + 5  1  No Anamolies are Suspected  1  T e c h n i c a l l y Difficult t o A s s e s s F e t a l A n a t o m y  1  Many Fetal Details Cannot be S e e n Adequately  37631 13  1  1  ??  Uterine Fibroid C y s t = 6 c m size  13  1  1  ??  Anterior Contraction of Uterus  13  1  1  228 1  Possible Cystic Hygorma, 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: E a r l y F e t a l H y d r o p s  1  1  U/S Confirms Menstral Dates  1  1  Apparently Normal G e s t a t i o n  14*3  1  2  755.35  S h o r t F e m u r for G e s t . A g e  14*3  1  2  744 88  Thick Nuchal A r e a  14 + 3  1  2  14 + 3  1  2  553.1  Small Omphalocele  17  1  1  755.28  Both Radii a r e Hypoplastic  17  1  1  553 1  M a s s i v e Omphalocele containing liver  17  1  1  742.23  H y p o p l a s t i c C e r e b e l l a r H e m i s p h e r e s w i t h Fluid c o l l e c t i o n i n p o s t e r i o r f o s s a  17  1  1  524,0  Micrognathia  17  1  1  756 02  Hypertelorism  17  1  1  754.78  Soles are rounded  17  1  754 78  Heels are Prominent  17  1 1  1  755 88  T i b i a a n d Ftbia S e e m S h o r t  17  1  1  755 51  Radical Deviation of O n e Hand  15  1  1  742 48  C y s t o m a Magna Appears Somewhat  15  1  t  18  1  1  742.26  Alobar Holoprosencephaly with Monoventricular Cavity  18  1 1 1  1  742.26  No Midline Cerebral Structures  1  742 48  Possibly F u s e d Thalami  32  5  3  761.3  Mild Polyhydramnios  32  5  3  746.88  Small Amount of Pericardial Effusion  32  5  3  751.10  Duodenal Atresia (Double Bubble Sign)  t  1  22  4  2  753.20  Bilateral S e v e r e  22  4  2  761.2  S e v e r e Oligohydramnios  22  4  2  753 29  Bilateral Hydroureters  22  4  2  753.88  Severely Distended Bladder  31640 11*1  31663 16  31630  Imp: S u g g e s t i n g A P o s s i b l e T r i s o m y  31601  37706 Bulky  N o Definite F e t a l A n o m a l i e s  31114  18 18  1  Difficult S c a n d u e to M a t e r n a l O b e s i t y  31716  31717 10  F e t a 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 Hydronephrosis  31150 15  13  1  2  Severe Cranial Anomaly  15  13  1  2  Likely A n e n c e p h a l y w i t h L a r g e P o s t e r i o r E n c e p h a l o c e l e o r I n i n e n c e p h a l y  15  1  1  228 1  15  t  1  778,5  15  1  1  A m n i o c e n t e s i s attempted 2 X , unsuccessful  15  1  1  Placental B i o p s y under U / S guidance  15  1  1  Fetal Size Appropriate F o r D a t e s  31132 Cytic Hygroma S e v e r e D e g r e e o f F e t a l E d e m a , e x t e n d i n g d o w n e n t i r e length o f the fetal b o d y  successful  37760 17 + 3  15  1  17 + 3  15  1  17 + 3  15  1  17 + 3  15  1  17 + 3  15  1  17 + 3  15  1  17 + 3  15  1  17 + 3  15  1  1 1 1 1 1 1 1 1  17 + 3  15  1  20  21 + 2 w k s  20  21 • 2 w k s  759.89  Impression: N e u L o x o v a Syndrome  754.73  Suspicion of R Clubbed Foot  745.49  V S D v e r y likely  755.51  Abn Position o f Fingers  755.19  Syndactyly Strongly S u s p e c t e d  778.5  Small Degree o f Skin Edema  764.9  Symmetrical IUGR  742.23  Abnormal Cerebellum  1  742.21  C o r p u s C a l l o s u m N o t Identified  1  2  778.5  Nuchal E d e m a , e d e m a extends o v e r chest wall  1  2  31171 Imp: C h r o m o s o m e s ? , V i r a l ? , S t o r a g e ? , D w a r f i s m V a r i a n t ?  119  Ultrasound Findings  Appendix II EGA  EGA  Dates  U/S  20  21 + 2 w k s  20  21 + 2 w k s  20 20  Amniotic Fluid  Method Narrow  Diagnosis:  of TA  Code:  1  2  755.88  1  2  21 + 2 w k s  1  2  762 28  Placenta with Dystrophic Calcifications  21 + 2 w k s  1  2  754.50  Bilateral Talipes Equinovarius  16  1  2  778.0  S e v e r e Fetal Hydrops  17  1 1  2  17 17  1  2  17  1  2  17  1  2  17  1  2  746 88  Hypoplastic R Ventricle  18  2  2  756.71  A t y p i c a l G a s t r o s c h i s i s i s p r e s e n t w i t h herinal orifice to the R a n d inferior t o u m b i l i c a l i n s e r t i o n  18  2  2  762.1  Mild Oligohydramnios  22  0  2  753 13  Lethal Type Polycystic Kidney D i s e a s e  22  0  2  753.34  Fetal Kidneys Larger than Term S i z e  A b d o m i n a l Soft T i s s u e s A r e A b n o r m a l l y P r o t u b e r a n t  Limbs Globally Short M y o c a r d i u m more e c h o g e n i c than normal  L Outflow L o o k s N o r m a l P r o g n o s i s g u a r d e d with longterm palliation p o s s i b l e  2  Small D e g r e e of Pulmonary Artery F l o w  746.1  Poor Tricuspid Motion Abnormal 4 C h a m b e r V i e w of Heart  LMP ?  18  ,  ,  756.79  LMP?  18  1  1  754.22  S p i n e e x h i b i t s 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 t h e L o w e r T h o r a c i c r e g i o n  LMP ?  18  1  1  742 32  A m o r p h u s T u b u l a r P a r t i a l l y Fluid S t r u c t u r e s w h i c h likely r e p r e s e n t f e a t u r e s o f H y d r a n e n c e p h a l y  LMP ?  18  1  '  19 + 4  1  2  741.01  Apparent Mild Amold-Chiari Malformation  19 + 4  1  2  742.39  Lateral Cerebral Ventricles are 20 mm wide  19 + 4  1  2  741.01  P r o b a b l y S m a l l D i s t a l L u m b a r - S a c r a l S p i n a Bifida  19 + 4  1  2  742.39  S e v e r e , Roughly Symmetrical Hydrocephalus  19 + 4  1  2  742.39  3rd C e r e b r a l V e n t r i c l e s a r e 5-6 m m d i l a t e d  Extracranial Brain Tissue, Like Encephalocele  No Cranial Vault c a n be Delineated  32  29 + 6  5  2  742.09  32  29 + 5  5  2  756 14  32  29 + 5  5  2  755.88  Only T w o Limbs W e r e S e e n  32  29 + 5  5  2  743.57  V e r y S m a l l Orbit  32  29 + 5  5  2  743.8  Asymmetrically P l a c e d E y e  32  29 + 5  5  2  742 48  Intracranial B r a i n T i s s u e is D i s o r g a n i z e d a n d D e f i c i e n t  32  29 + 5  5  2  755.51  O d d P o s i t i o n o f F i n g e r s in o n e h a n d  32  29 + 5  5  2  756 08  N o n o s s i f i e d Skull  32  29 + 5  5  2  762.8  S t a n d s o f M e m b r a n e a r e A t t a c h e d to the S m a l l A p p a r e n t l y N o n o s s i f i e d S k u l l  32  29 + 5  5  2  761.3  Mild Polyhydramnios  32  29 + 5  5  2  762.8  P r o b a b i l i t y o f A m n i o t i c B a n d S y n d r o m e i n v o l v i n g fetal h e a d , including f a c e  32  29 + 5  5  2  743.67  T h e O r b i t s S e e m A s y m m e t r i c a l in S i z e  740.02  Anencephalus  C e r v i c a l S p i n e S e e m s A b n , in S t r u c t u r e a n d C u r v a t u r e  20  1  2  20  1  2  16  1  1  17 + 2  6  1  778.5  Scalp Edema  17 + 2  6  1  228.1  Small Cystic Hygroma noted  17 + 2  6  1  761.3  Moderate Polyhydramnios  18  ,  18  1  1  744.88  Nuchal E d e m a is Present  18  1  1  No Other Anomalies S e e n  Normal Growth/Fluid/Fetal Anatomy  ,  D e t a i l Difficult to V i s u a l i z e d u e t o M a t e r n a l O b e s i t y  F e t a l S i z e A p p r o p r i a t e for D a t e s  22  2 0 + 1 wk  1  2  764.9  F e t a l S i z e at 1 0 % c e n t i l e for d a t e 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 ( e g . F a n c o n i A n e m i a , T . A . R . , or I s o l a t e d 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 contraction)  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  Mild Dilatation of L R e n a l P e l v i s  22  2 0 + 1 wk  1  2  755.26  Absent Radius, Short Ulna  22  20 + 1 w k  1  2  755.51  L A r m A b n - marked radial deviation of hand  23  4  2  761.2  S e v e r e Oligohydramnios  23  4  2  753.16  23  4  2  23  4  2  23  4  2  20 + 2  ,  ^  20 + 2  1  20 + 2  1  1 1  10 + 3  1  1  L A b d o m e n either L a r g e C y s t i c D u p l e x K i d n e y or 2 K i d n e y s b o t h C y s t i c (largest c y s t 14 mm) No Kidneys Seen R Side  753 8  No Bladder S e e n No Other Anomalies S e e n  754.73  R Club Foot  553.1  A b n o r m a l F e t u s with a n Intact O m p h a l o c e l e P o s s i b l e C h r o m o s o m e Abnormality  Successful C V S  No Fetal Abnormalities S e e n  120  Appendix II  Ultrasound Findings  Coda  EGA  EGA  A/nrnotic:  No:  Dates  U/S  Melhod Narrow  Diagnosis:  FK*d  o! TA  11+3  1  1  Coda: Successful C V S  16  1  2  N o Fetal Abnormalities S e e n  38117 25  22  1  2  741.01  Amold-Chiari T y p e o f Malformation  25  22  1  2  742.39  Ventriculomegaly  25  22  1  2  741.01  Strongly S u s p e c t e d S a c r a l Defect  1  1  38130 10 + 5  Fetal S i z e C o r r e s p o n d s with Dates  38136  19 + 5  1 1  21  1  2  21  1  - 2  21  1  2  2  19 + 5  2  756.61  M a s s i v e L Diaphragmatic H e m i a  2  746.80  R S i d e d Displacement o f the Heart  38148 Normal Fetal Growth For Dates N o Other Anomalies S e e n 740.02  Anencephalic Fetus  38181 10 + 3  11 + 3 d  1  15  12 + 5  1  2  15  12 + 5  1  2  15  12 + 5  15  12 + 5  15  12 + 5  1 1 1  2  15  12 + 5  1  2  T o o Early for Detection o f Organ Details  16  1  1  No Anomalies Seen  11+3  1  1  F e t a l S i z e C o r r e s p o n d s to D a t e s  15 + 6  1  1  No Evidence of Fetal Anomalies  16  1  2  742,26  16  1  2  756.08  Both Twins Probable Proboscis  16  1  2  743.67  T w i n A S i n g l e Orbit  16  T r a n s a b d o m i n a l C V S - S i n g l e t a p for a d e q u a t e t i s s u e  38186 748.51  B o t h L u n g s S e e m S m a l l ( R L u n g 1/3 e x p e c t e d s i z e , L lung 1/2 e x p e c t e d s i z e Single, Fetus, 1 2 - 13 wks size  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  2  748.51  Suggesting Lethal Pulmonary Hypoplasia N o r m a l G r o w t h a n d Fluid  38261  38270  38313  38321 Both Twins Holoprosencephaly  I  2  753.20  Both Twins Hydronephrosis  16  1  2  553.1  Twin A Omphalocele  16  1  2  755.00  Twin A Possible Polydactyly  16  1  2  744.88  Both Twins Nuchal Thickening  Femurs <5%centile  38322 19  21  1  2  755.65  19  21  1  2  754 40  Femurs Curved  19  21  2  756.34  Ribs A p p e a r Short and Thorax a p p e a r s Small  19  21  2  755.54  R a n d L Humerus are C u r v e d  19  21  1 1 1  2  756.44  Imp: S h o r t L i m b e d D w a r p h i s m ? ? Asphba'ating i n t y p e  19  21  1  2  755,88  All L o n g B o n e s a r e S h o r t e r T h a n E x p e c t e d < 5 % c e n t i l e  19  21  1  2  755.63  Tib/Fib <5%centile  19  21  1  2  755.88  Trunk C i r c u m f e r e n c e a n d H e a d M e a s u r m e n t s = 2 1 w k s  14 + 2  1  1  744,88  Diffuse N u c h a l E d e m a  14 + 2  1  1  778.5  Subcutaneous Edema Over Scalp and Thorax  14 + 2  1  1  38324  Probable Chromosome A b n (T21, T18, 45 X )  38329  16 + 6  1 1 1 1  16 + 6  1  16 + 6  1 1 1 1  16 + 6 16 + 6 16 + 6  16 + 6 16 + 6 16 + 6  2  778.0  2  228.1  Large Cystic Hygroma  2  778.5  Subcutaneous Edema  Fetal Hydrops  2  511.9 '  Pleural Effusions  2  753.20  L Fetal  2  753.32  Possibly a Horseshoe Kidney  Hydronephrosis  2  R Kidney Not S e e n  2  M a n y Details C o u l d Not B e Visualized Properly  2  778,0  Ascites  38330 19 + 1  17 + 1 w k  1  2  19 + 1  1 7 + 1 wk  1  2  Imp: P r o b a b l e A c r a n i a o r C o u l d B e A V a r i a n t o f A n e n c e p h a l y  19+1  17 + 1 w k  1  2  N o Other Anomalies S e e n  27  24  27  24  T h e C r a n i a l Vault Is A b s e n t But B r a i n T i s s u e A p p e a r s T o B e P r e s e n t  38345  1 1  2  N o Other Anomalies Detected  2  740.02  Both Fetuses Anencephalic  M o s t Likely R e p r e s e n t i n g a F o r m o f A r t h r o g r y p o s i s  38348 19 + 2  1  2  755.88  19 + 2  1  2  778.5  Severe, Generalized Subcutaneous Edema  19 + 2  ' 1  2  755.88  Abnormal Position of Arms and L e g s  19 + 2  1  2  19 + 2  1  2  19 + 2  1  2  19 + 2  1  2  750.7  S t o m a c h Not S e e n  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  H e a r t A n a t o m y N o t W e l l S e e n D u e to F e t a l P o s i t i o n 511.9  Bilateral Pleural Effusion N o Fetal M o v e m e n t S e e n During E x a m  38349  121  Appendix II  Ultrasound Findings  Coda  EGA  EGA  No:  Dates  U/S  Amniotic  Method Narrow  Diagnosis:  FlucJ  oITA  19  1  2  Code:  19  1  2  742 48  Banana Sign in Cerebellum  19  1  2  742 23  C e r e b e l l u m S m a l l e r t h a n E x p e c t e d for G e s t . A g e  13*4  1  1  75548  Probable Micromelia  13 + 4  1  756.08  Skull i s Poorly Mineralized  13*4  1 1  1  742.39  Hydrocephalus - Dilation o f 3rd a n d Lateral Ventricles  13 + 4  1  1  756.08  Skull h a s Abnormal C l o v e r l e a f S h a p e  13 • 4  1  755 88  4 Limbs are Markedly Short  1  756 44  Obviously Affected by a Short-Limbed Dwarf Syndrome  13 + 4  1 1 1  1  75644  Likely T y p e II T h a n a t o p h o r i c D w a r f i s m  13 + 4  1  1  756.08  Prominent  16 + 4  1  1  745.63  T h e r e A p p e a r s to b e O n l y 1 A V V a l v e ( A V C a n a l D e f e c t )  16 + 4  i  16 + 4  i  74 5 00  ? possible Truncus  16 + 4  1  1 1 1  745 49  V e n t r i c u l a r S e p t u m i s Incomplete  Difficult S c a n d u e to M a t e r n a l A b d o m i n a l W a l l  33356  13 + 4  Forehead  33364  Great V e s s e l s Appear Abnormal  33374 16 + 1  1 6 + 1 wk  1  1  F e t a l D e t a i l i s S o m e w h a t L i m i t e d by M a t e r n a l A b d o m i n a 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 i n g l e T a p , C l e a r Fluid  18  1  1  748.51  ? Pulmonary Hypoplasia  18  1  778 0  Ascites  1  751,62  Enlarged Liver  1  744.88  ? Nuchal Edema  18  1 1 1 1  1  762 28  E n l a r g e d P l a c e n t a with P o l y h y d r a m n i o s  18  1  1  754 82  F e t a l C h e s t i s S m a l l (the heart a l m o s t fills t h e c h e s t )  333S0  18 18  31391 13 + 2  14 + 1 w k  2  1  13 + 2  14 + 1 w k  2  1  762.28  Large Placental Lake Noted  13 + 2  1 4 * 1 wk  2  1  761.2  Mild Oligohydramnios  13 + 2  14 • 1 w k  779.9  N e e d R e p e a t F o r F e t a l D e m i s e @ > 1 6 w k s in V i e w o f M a t e r n a l A b d o m i n a l W a l l  Multiple F i b r o i d s  2  1  18 + 2  1  1  No Anomalies Seen Today  18 + 2  1  1  Apparently Normal Gestation  33106  33333 18+1  1  2  746,88  The R Ventricle 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  18+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 Scalp, N e c k , + Posterior C h e s t A r e a  18 + 1  1  2  742 48  N o n e o f T h e N o r m a l Intracranial S t r u c t u r e s C o u l d B e S e e n  18+1  1 1  2 2  741 93  M e m i n g o c e l e in t h e L u m b a r S p i n e , invorving a single v e r t e b r a e at l e v e l L 1 / L 2  S m a l l C e r e b e l l u m Identified  18+1  F e t a l B i o m e t r y Is A p p r o p r i a t e F o r G e s t . A g e  33134 26  25 * 2 wks  1  2  742 23  26  25 * 2 wks  1  2  742 48  Fluid H a l o S u r r o u n d i n g B r a i n  26  25 • 2 wks  1  2  754.78  Abn. Position Feet  26  25 + 2 wks  1  2  755.38  No L o n g B o n e s in L o w e r Extremities  26  25 * 2 wks  1  2  755.28  No L o n g B o n e s in Upper Extremities  26  25 + 2 wks  1  2  778.0  Severe Ascites  26  25 * 2 wks  1  2  5119  Pleural Effusion P r e s e n t  26  25 + 2 wks  1  2  742 39  Possible Enlarged Ventricles  26  25 * 2 wks  1  2  742 48  Abnormal Central C e r e b r a l Structure  26  25 + 2 wks  1  2  742.  U n a b l e t o Identify N o r m a l C e r e b r a l H e m i s p h e r e s  17  16*1wk  1  2  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 Fetal Limbs (Active)  17  1 6 * 1 wk  1  2  756 08  ? A b s e n c e of N a s a l Bones  17  16 * 1 w k  1  2  755.58  H u m e r u s 2 0 m m , a p p e a r s to b e j o i n e d directly to L H a n d  17  16 + 1 w k  1  2  755.08  ? Polydactyly  17  1 6 + 1 wk  1  2  17  16 • 1 w k  1  2  754 73  B o t h F e e t T u r n Inwards  17  16 + 1 w k  1  2  744 88  Mild Degree of Nuchal Skin E d e m a  17  16 + 1 w k  1  2  17  16 + 1 w k  1  2  744 9  21+5  1  1  742.39  Slight D i l a t a t i o n o f L a t e r a l V e n t r i c l e s  21+5  1  1  741.01  A s s o c i a t e d Amold-Chiari Malformation  21+5  1  1  741.01  M e n i n g o c e l e , Invorving t h e s p i n e for T 4 to S a c r u m  33530  •  A c t i v e Fetus about 16 w k s by Growth  Femurs, 2 0 mm, Tib/Fib, 15 mm  N o O t h e r A b n . S e e n , Intracranial, S p i n e , C h e s t , H e a r t , S t o m a c h , K i d . , B l a d d e r & A b d . W a l l , U . + L . J a w O K F a c e Not W e l l S e e n  33331  3333* 13 + 2  15-16  1  1  764 9  Fetus 3 w k s Below in S i z e  18 + 2  15-16  1  1  74193  High Meningocele L e s i o n o n Lumbar Spine L 1 / 2 - L 4  17 + 2  15*  1.5 w k  1  1  746.88  E v i d e n c e o f Pericardial Effusions  17 + 2  15*  1.5 w k  1  1  511.9  E v i d e n c e o f Pleural Effusions  17 + 2  15*  1.5 w k  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 e x t e n d i n g from h e a d to a b d . & o v e r o n t o t h e v e n t r a l s i d e o f fetus  17 + 5  15*  1 wk  4  1  17 + 5  15+ 1 wk  4  1  753,13  Possible Polycystic Kidneys  17 + 5  15 • 1 w k  4  1  761,2  S e v e r e Oligohydramnios  33303  33733 Difficult t o s e e 4 C h a m b e r H e a r t V i e w  122  Ultrasound Findings  Appendix II Amniotic  Method Narrow  Diagnosis:  EGA  EGA  Dates  U/S  Fluid  ofTA  17 + 5  1 5 + 1 wk  4  1  17 + 5  1 5 + 1 wk  4  1  17 + 5  1 5 + 1 wk  4  1  17 + 5  15 + 1 w k  4  1  756.71  Possible  17 + 5  15 + 1 wk  4  1  748.51  Possible Hypoplastic Lungs  17 + 5  15 + 1 w k  4  1  789.9  P o s s i b l e Intraabdominal Calcifications  17 + 5  15 + 1 w k  4  1  17 + 5  1 5 + 1 wk  4  1  754.03  29 + 4  29 + 2  ,  29 + 4  29 + 2  14* 1  13  14 + 1  13  14* 1  13  14 + 1  13  18 + 6  16  18 + 6  16  18*6 18 + 6  Coda: 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 750.7  No Stomach  Seen  H y p e r e c h o g e n i c M a s s A n t e r i o r to L o w e r P o l e o f K i d n e y Gastroschisis  H e a r t O c c u p i e s 1/2 o f t h e T h r o a x H e a d is Dolicocephalic  2  756.18  Spine Very Distorted and Tortuous  2  740.02  Anencephalic Fetus  ,  ,  778.5  Thoracic Skin Edema  1  1  778.5  Abdominal Skin Edema  1  1  744.88  Nuchal Edema  1  778 0  S e v e r e Fetal Hydrops  1  2  228.1  S m a l l B i l a t e r a l H y g r o m a s a r e In  1  2  746.88  L a r g e R Atrium  16  1  2  746.88  Large R Ventricle  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  Minimal Bilateral Hydronephrosis  18 + 6  16  1  2  747.32  Pulmonary Artery Not a s Large a s I W o u l d Expect  18 + 6  16  1  2  746.88  Small Pericardial Effusion  18 + 6  16  1  2  745.48  S m a l l If A n y V S D C o m p o n e n t  18 + 6  16  1  2  Evidence  Imp: D o w n ' s S y n d r o m e , e t c . . .  6 + 6  M a t e r n a l A b d o m i n a l W a l l a n d F e t a l P o s i t i o n a r e Limiting i n T h i s E x a m  6 + 6  No Abnormalities S e e n Today  6 + 6  756 7  Small Abdominal W a l l Defect Cannot B e Excluded (Ache suggestive of A b d . W a l l Defect)  F o u r C h a m b e r V i e w Identified Sluggish Movements  Identified  20  C a n n o t E s t a b l i s h 3 v e s s e l s i n the U m b i l i c a l C o r d  20  Extremities Appear Normal  20  F a c i a l F e a t u r e s not  Assessable  20  553.1  O m p h a l o c e l e c o n t a i n i n g p r o b a b l y all o f the s m a l l b o w e l  20  756.7  W i d e Anterior Abdominal W a l l Defect  20  754.20  S p i n e 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  20  742.48  Intracranial Structure Distorted  742.08  E n c e p h a l o c e l e from v e r t e x  No G r o s s Fetal Anomalies S e e n  • 1 wk  756.08  Lemon Sign Present  f 1 wk  741.01  M e n i n g o m y e l o c e l e a r i s i n g i n the L 3 - L 4 v e r t e b r a e l e v e l  20  • 1 wk  C a r d i a c , All Structures a n d V e i n s S e e n a n d A p p e a r Normal  20  • 1 wk  Banana Sign Present  20  K 1 wk  L o w e r Limb P o s ' n and Movement A p p e a r Normal  20  • 1 wk  M o d . Ventriculomegaly suggesting a s s o c i a t e d Arnold Chiari Matfn  17 + 5  756.72  Imp: U r i n a r y T r a c t O b s t r u c t i o n + M a s s i v e A s c i t e s (likely u r i n o m a ) , P r u n e B e l l y S y n d r o m e  17 + 5  778.8  M a s s i v e Fetal Ascites  17 + 5  753.88  Very Large Bladder  17 + 5  753.20  Bilateral Mild Hydronephrosis  17 + 5  754.82  Chest Circumference < 10%centile  17 + 5  751.62  P e r i p h e r a l C a l c i f i c a t i o n s at E d g e o f L i v e r  17 + 5  761.2  S e v e r e Oligohydramnios  17 + 5  754.73  Positional R Club Foot  No Bladder S e e n Bilateral R e n a l  Hypogenesis/Agenesis  Imp: L e t h a l R e n a l M a l f o r m a t i o n s 742.39  Enlarged C y s t e m a Magna  742.39  Cranioventriculomegaly  762.8  Amnion C l o s e l y Applied to Fetal Parts  19 + 4  753 71  Possible Urachal Cyst  19 + 4  746.88  L Ventricle a p p e a r s smaller than R side  19 + 4  742.48  Large Choroid Plexus Cyst R Side  19 + 4  745.58  ASD  19 + 4  756.61  Diaphragmatic Hernia, L Side  19 + 4  753.48  Possible Dilated Ureter  19 + 4  789.9  Intraabdominal C y s t i c Structure  19 + 4  74549  Possible V S D  19 + 4  755.61  19 + 4  R o c k e r Bottom Feet Difficult t o s e e F e t a l K i d n e y s  Appendix II  Ultrasound Findings  Code  EGA  EGA  No:  Dates  U/S  Amniotic Fluid  Method Narrow of TA  1 1  18 + 3  1 1 1 1 1  18 + 3 18 + 3  18 + 3 18 + 3 18 + 3 18 + 3  Code: 742.48  Drooping Choroid Plexus  746.88  R Ventricle A p p e a r s Larger than L Ventricle  745 49  Possible V S D  1  742.39  Mild Ventriculomegaly  1  1  751.64  M a r k e d l y D i l a t e d G a l l b l a d d e r , a p p e a r s thick w a l l e d  1  1  1  „  Diagnosis:  1  Imp: C h r o m o s o m a l A b n o r m a l i t i e s , P o s s i b l e T r i s o m y  U n a b l e to D e t e c 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  1  11+3  26 + 4  4  2  750.7  Unable T o visualize Stomach  26 + 4  4  2  761.2  S e v e r e Oligohydramnios  26 + 4  4  2  26 + 4  4  2  753. B  26 + 4  4  2  753.00  26 + 4  4  2  U n a b l e to S e e G o o d A n a t o m i c D e t a i l D u e to O l i g o h y d r a m n i o s  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 r a n s . A b d . , 2 attempts, F / H + v e  27  4  2  746.88  Pericardial Effusions  27  4  2  764.9  S e v e r e Symmetrical IUGR , 5%centile  27  4  2  779.9  F e t a l H e a r t A b s e n t at T o d a y s E x a m  27  4  2  746.1  M i l d T r i c u s p i d + M i t r a l R e g u r g i t a t i o n (Doppler)  27  4  2  761.2  S e v e r e Oligohydramnios  27  4  2  11+3  744,88  E x t e n s i v e A r e a o f N u c h a l E d e m a , Extenting from b a c k o f n e c k t o m i d w a y d o w n s p i n e Size Appropriate of Gestational A g e B y Dates  1  3S914  Unable T o visualize Kidneys Unable T o Visualize Bladder Suggestive of Renal Agenesis  31961  36967  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 Unknown  26-27  4  2  Unknown  26-27  4  2  789,9  Unknown  26-27  4  2  761.2  Unknown  26-27  4  2  Unknown  26-27  4  2  756,6  D i a p h r a g m i s difficult to s e e  Unknown  26-27  4  2  753,1  A b d . M a s s A p p e a r s to b e a l a r g e M u t t i / P o l y c y s t i c K i d n e y ( M a s s i s R e t r o p e r i t o n e a l  Unknown  26-27  4  2  Unknown  26-27  4  2  753,8  Bladder Not S e e n  Unknown  26-27  4  2  750.7  S t o m a c h Not S e e n  Unknown  26-27  4  2  17 + 5  1  2  762.68  U m b i l i c a l Insertion A b n o r m a l i t i e s  17 + 5  1  2  754.22  F l a t t e n e d D e c r e a s e d A n g l e to S p i n e  17 + 5  1  2  756.79  Lower Abdominal Wall Appears Abnormal  17 + 5  2  753.71  Possible Urachal Cyst  17 + 5  1 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 D e f i n e d ,  17 + 5  1  2  755.67  P e l v i c Iliac S t r u c t u r e s A p p e a r A b n o r m a l  19 + 2  3  2  19 + 2  3  2  750.7  S t o m a c h not s e e n t o d a y  19 + 2  3  2  753.8  B l a d d e r not s e e n t o d a y  19 + 2  3  2  778.0  Fetal Ascities  19 + 2  3  2  761.2  Moderate Oligohydramnios  19 + 2  3  2  778.0  Hydrops  19 + 2  3  2  511,9  Bilateral Pleural Effusions  19 + 2  3  2  753.20  Large Dilated R e n a l Pelvis R Kidney  19 + 2  3  2  228.1  L a r g e C y s t i c H y g r o m a e x t e n d i n g p o s t e r i o r l y to l e v e l o f C 6 / C 7  19 + 2  3  2  746.88  Hypoplastic L Ventricle  19 + 2  3  2  U n a b l e t o s e e s h o r t a x i s v i e w o f heart  19 + 2  3  2  L K i d n e y not s e e n t o d a y  18  34  2  18  34  2  764,S  A b d o m e n and Thorax are < 5%centile of Normal U / S dates  18  34  2  761.2  Moderate to S e v e r e Oligohydramnios  H e a r t D i s p l a c e d C r a n i a l l y a n d t o t h e Left L a r g e Intraabdominal C y s t i c S t r u c t u r e (multicystic) w h i c h o c c u p i e s m u c h o f t h e a b d o m e n S e v e r e Oligohydramnios U n a b l e to D i s c e r n C a r d i a c A n a t o m y D u e to C o m p r e s s i o n a n d D i s t o r t i o n  A S e c o n d K i d n e y C o u l d Not B e S e e n  C y s t i s e x e r t i n g a m a s s effect c o m p r e s s i n g heart a n d L u n g s  38972  (ambiguous)  38973 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  38978 V e r y Little M o v e m e n t W a s N o t i c e d  38979 12+1  11+4  +/-3  1  12+1  11+4  +/-3  t  12+1  11+4  +/-3  1  1 1  19  18  34  1  19  18  34  1  19  18  34  19  18  34  1 1  778.0  Fetal Ascites  19  18  34  1  778.0  Hydrops  19  18  34  1  511.9  Bilateral Pleural Effusions  19  18  34  1  742.39  Mild Dilation o f 3rd Ventricle  19  18  34  1  742,39  Mild Ventriculomegaly  19  18  34  1  19  18  34  19  18  34  19  18  34  Singleton Gestation  1  Size = Dates 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 b e f o r e & after  38983  1 1 1  U n a b l e to V i s u a l i z e 4 C h a m b e r V i e w o f H e a r t 745,58  Possible A S D  761.2  M o d e r a t e to S e v e r e O l i g o h y d r a m n i o s  Probable C h r o m o s o m e Anomaly, ? Turners 764,9  Fetal size < 10%centile for G e s t . A g e  228.1  C y s t i c H y g r o m a - l a r g e s e p t a t e d c y s t i c structure e x t e n d i n g form h e a d d o w n b a c k  753,8  Bladder Not S e e n  124  Appendix II  Ultrasound Findings Method Narrow  125  Diagnosis:  EGA  EGA  Amniotic  Dates  U/S  FMd  of TA  Code;  ,  2  754.00  Somewhat Asymmetrical F a c i a l Structures  t  2  756.18  Cervical and Upper Thoracic Spine Appear Widened  1  2  742,26  C o n f i r m e d H o l o p r o s e n c e p h a l y (single v e n t r i c l e , i n t e r h e m i s p h e r i c f i s s u r e s e e n )  18  16 • 1  18  16 +  18  16 +  18  16 + 1  1  2  742.48  Thalamus Possibly F u s e d  18  16+ 1  2  742.48  C h o r o i d P l e x u s Indistinguishable  18  16+ 1  1 1  2  756.1  Generally Spine Not W e d S e e n Due T o Fetal Position  18  16 + 1  2  742 48  S e p t u m P e l t u c i d u m Not Identifiable  1 1  15 + 4  2  No Fetal Anomalies S e e n  1  2  Fetal S i z e C o r r e s p o n d s with Menstral Dates  wk  4  ,  wk  15 + 4  1 1  761.2  19 + 1  15 +  19+1  15 +  4  1  19+1  15 + 1 wk  4  1  742.39  S e v e r e Ventriculomegaly  19 + 1  15 + 1 wk  4  1  742.48  Cerebellum Displaced Posteriorly  19 • 1  15 + 1 w k  4  1  Probable Congenital Heart  19 + 1  1 5 * 1 wk  4  1  N o Clearly Defined Renal Structures S e e n  19 + 1  1 5 + 1 wk  4  1  ,  3  17 + 1  S e v e r e Oligohydramnios Probable Lethal M C A , Chromosomal  753.8  Disease  No Bladder S e e n  T w i n A - N o Identifiable T h o r a x S t r u c t u r e s  3  17 + 1  1 1  17 + 1  1  3  17+ 1  1 1  3  T w i n A - N o Identifiable Internal H e a d S t r u c t u r e s  3  T w i n A - N o Identifiable A d o m i n a l S t r u c t u r e s  17+1  3  T w i n A - N o H e a r t i s S e e n A l t h o u g h A P u l s a t i o n i s V i s i b l e in T h r o a x  10 + 4  <  Ultrasound Confirms Menstral D a t e s  17 + 1  17 + 1  762.30  3  Imp: T R A P - T w i n R e v e r s e d A r t e r i a l P e r f u s i o n S e q u e n c e Twin B Appears Normal  778.0  Twin A - Grossly Hydropic  28-29  4  2  753.16  Possibly Cystic Horseshoe Kidney  28-29  4  2  761.2  S e v e r e Oligohydramnios  754.03  28-29  4  2  28-29  4  2  28-29  4  2  753.16  M u l t i c y s t i c M a s s in the L o w e r A b d o m e n  28-29  4  2  753.8  B l a d d e r Not Identified  10*4  1  1  10 + 4  1  1  R Sided Multicystic M a s s , 2 x 4 cm, ? ovary  10*4  1  1  Uncomplicated Trans Abd. C V S  13 + 1  3  13+ 1  3  1 1  13 • 1  3  i  778.0  Fetal Hydrops  Pleural Effusions  D o l i c o c e p h a l y , P r o b a b l y due to O l i g o h y d r a m n i o s Normal Fetal Kidney Not S e e n  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  228.1  Swelling Around N e c k Consistent with C y s t i c Hygroma Imp: C h r o m o s o m a l A n o m a l y M o s t L i k e l y D i a g n o s i s  21+2  17  ,  2  511.9  21+2  17  i  2  754.73  B i l a t e r a l C l u b b e d Fett  21+2  17  i  2  740.01  Imp: C o n s i s t e n t with S y n d r o m e o f A c r a n i a  21+2  17  t  2  742.48  Flattened Cerebral Hemispheres  21+2  17  i  2  740.01  Acrania  21+2  17  i  2  778.5  Ascites  21+2  17  i  2  778.0  Generalized Hydrops  21+2  17  i  2  764.9  I U G R , S i z e - 4 w e e k s b e h i n d a g e (femur/trunk = 17 w k s )  21+2  17  '  2  740.01  Absent Catvarium  21+6  4  2  753.8  N o B l a d d e r Identified  21+6  4  2  746.88  Possible Enlarged R A  21+6  4  2  746.88  M o d e r a t e Pericardial Effusion  21+6  4  2  750.7  No Stomach  21+6  4  2  21+6  4  2  746.86  Fetal Heart myocardium a p p e a r s hypertrophic  21+6  4  2  761.2  N o A m n i o t i c Fluid A r o u n d F e t u s  21+6  4  2  756.1  Spine - poor visualization  19  2  ,  778.0  Ascites  19  2  1  761,2  Mild Oligohydramnios  19  2  1  511.9  P l e u r a l Effusion  19  2  778.5  Generalized Edema  19  2  1 1  19  2  '  228,1  Cystic Hygroma  756.08  A b n Skull S h a p e , ( a s y m m e t r i c though n o i n t r a c r a n i a l a n o m a l y )  745.58  A S D , P o s s i b l y a l s o identified  Identified  N o K i d n e y s Identified  Difficulty in R e c o g n i z i n g A b d o m i n a l O r g a n s D u e t o A s c i t e s  20 + 3  16-17  34  20 + 3  16-17  34  20 + 3  16-17  34  20 + 3  16-17  34  1 1 1 1  753.20  Possible Hydroureter or Hydronephrosis  20 + 3  16-17  34  t  754.22  S e v e r e A n g u l a t i o n o f U p p e r T h o r a c i c S p i n e with A b s e n t A p p a r e n t  20 + 3  1 6 - 17  34  1  764, S  1 6 - 1 7 w k s by B P D - I U G R  20 + 3  1 6 - 17  34  1  761.2  Moderate-Severe  20 + 3  1 6 - 17  34  1  753.88  M a s s i v e Fluid Filled D i s t e n d e d C y s t i c S t r u c t u r e Intra a b d o m i n a l l y , A p p e a r s t o be B l a d d e r  D e t a i l E x t r e m e l y Difficult to S e e  Hemivertebrae  Oligohydramnios  Appendix II  Ultrasound Findings  Code  EGA  EGA  Amniotic  No:  Dates  U/S  FKid  Method Narrow otTA  Code:  Diagnosis:  39376 16 + 3  1  2  228.1  18 + 3  1  2  754.82  B e l l S h a p e d T h o r a x , C i r c u m f e r e n c e < 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  Non-ossified Spine, Lumbar and Thorax  18 + 3  1  2  756.18  Possible Splaying o f Pedicles  18 + 3  1  2  741.99  Suggestive Dysraphism  18 + 3  1  2  755 48  S e v e r e M i c r o m e l i a o f all L i m b s  18 + 4  1  2  Large Cystic Hygroma  1930S  1 1  18*4 18*4  No other anomalies s e e n today  2  756.1  Spine Appears Normal  2  740.02  Anencephaly - A b s e n c e of Catvarium and Brain  742.39  Mild Ventriculomegaly  742.48  Unilateral Dangling C h o r o i d Plexus  751.5  E c h o g e n i c B o w e l , c o n t a i n s fluid but not o v e r l y d i s t e n d e d  Componenets  39337 19 * 2  18+ 1 wk  1  19 + 2  1 8 * 1 wk  19 + 2  18 + 1 w k  1 1  14*3  11+2  14 + 3  11+2  1 1  14*3  11 + 2  1  14 + 3  11+2  14 + 3  11+2  14 + 3  11+2  14 + 3  11+2  14 + 3  11+2  1 1 1  39333  1 1 1 1 1  1  742.26  Possible  1  756.08  Skull Poorly Calcified  1  764.9  Severe IUGR  1  755.88  L o n g B o n e s All S h o r t e n e d  756.08  L a r g e Fluid C o l l e c t i o n s S u p e r i o r H e a d R e g i o n  756.79  Large Abdominal W a l l Defect  756.08  Brain Sutures Not W e l l Defined  755.88  Long B o n e s Poorly Calcified  2  746.7  Impression: Hypoplastic L Heart Syndrome  2  746,88  Compensatory R S i d e d Enlargement  2  747.28  Ascending Aortal Enlargement  2  746.88  Hypoplastic L Ventricle  1  740.01  1 1 1 1  Hotoprosencephaly  39341  1 1 1 1  17 17 17 17 39343  12 + 3  1 1  24  2  12 + 3  t  Fetus with A c r a n i a N o O t h e r A n o m a l i e s D e t e c t e d at this Point  39343  24  2  24  2  1 1 1  18*2  1  1  18 + 2  1  t  754.78  Abn R Foot Position  755.63  Absent R Fibula No Other Anomalies A r e S e e n  39367 No Other Anomalies A r e S e e n 740.02  Anencephaly  39373 2 5 + 1d  1 8 - 21 w k  4  1  2 5 + 1d  1 8 - 2 1 wk  4  1  2 5 * 1d  1 8 - 2 1 wk  4  1  2 5 + 1d  1 8 - 2 1 wk  4  1  754,82  Small Thorax  2 5 • 1d  1 8 - 2 1 wk  4  1  753.00  No Kidneys Seen  15 + 3  1  2  16 + 1  2  1  228.1  Cystic Hygroma  16 + 1  2  1  778.0  Hydrops  16 + 1  2  756.49  S k e l e t a l D y s p l a s i a - all l o n g b o n e s « 5 % c e n t i l e  16 + 1  2  754.82  Narrow Thorax  16+ 1  2  1 1 1  742.48  Cerebellum Not S e e n  16 + 1  2  1  753.8  Bladder Not S e e n  16 + 1  2  1  756.18  Kyphoscoliosis, Spine Severely Twisted, Thoracic  16+ 1  2  1  778.5  Ascites  11+3  1  4  228.1  Nuchal Edema, H a s Appearance of Cystic Hygroma  11+3  1  4  779.9  IUD, N o Fetal Heart Beat  5 0 0 c c A m n i o Infusion 764,9  H C & B P D = 2 0 wk, A C = 18 w k s , F L = 21 w k s (Measurements Confirmed) Other Anatomy Appears Normal  39376 Apparently Normal Gestation  39330  39303  39309 19 + 5  19  1  2  745.49  2 V e n t r i c l e s A r e W e l l F o r m e d & It Is N o t C l e a r If T h e r e Is A V S D C o m p o n e n t  19 + 5  19  1  2  753.20  P r o m i n e n t R e n a l V a l v e s ( 4 . 5 m m & 4 mm)  19 + 5  19  2  745.63  Imp: C o n s i s t e n t w i t h a n A V S e p t a l D e f e c t , not likely to b e duct d e p e n d e n t  19 + 5  19  1 1  2  745.63  4 c h a m b e r v i e w a g a i n a p p e a r s n o r m a l c i t h l o s s o f the c r u x w h i c h i n d i c a t e s a n A - V s e p t a l defect  19 + 5  19  1  2  16 + 1  15 + 1  228.1  Cystic Hygroma  15 + 1  1 1  1  16* 1  1  778,0  Ascites  16 + 1  15 + 1  1  1  16*1  15+1  16 + 1  15+1  16 + 1  15+1  1 1 1  Normal Situs a n d Gt V e s s e l s Noted  39513  S u s p e c t C h r . Anomaly (Turners, T 1 3 , T18)  1  778.0  Generalized Hydrops - Skin Edema  1  755,88  Bone Lengths are smaller than expected (14 wks)  1  751.5  Echogenic Small Bowel  2  740.02  Anencephalic Fetus with Small Amount o f Brain T i s s u e  39513  1 1  18 18  2  F e t a l S i z e A p p r o p r i a t e B y A b d o m i n a l , Trunk a n d F e m u r L e n g t h  39530 7  14 + 1 w k  2  7  14 • 1 w k  2  1 1  753.68  Imp: C o u l d b e N U r i n a r y B l a d d e r with o b s t r u c t e d O u t f l o w o r N e o p l a s t i c e g . o v a r i a n c y s t if f e m a l e L a r g e c y s t i c struct, o c c u p y i n g & d i s t e n d i n g t h e fetal a b d . , d i s p l a c i n g liver up& c o m p r e s s i n g o t h e r o r g a n s  126  Appendix II  Ultrasound Findings  Code  EGA  EGA  Amniobe  No:  Dates  U/S  Fluid  ?  14 + 1 w k  2  ?  14 + 1 w k  2  ?  14 + 1 w k  2  Method Narrow of TA  1 1 1  Diagnosis:  Code: K i d n e y s a r e V e r y Difficult t o A s s e s s 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 761.2  A m n i o t i c Fluid A p p e a r s Slightly L o w F o r T h i s A g e  39512 14  1  14  1  14  1  1 1 1  744.91  F a c e Appears Without Features  744.88  Nuchal Edema  553.1  Omphalocele  14  1 1  1  743.67  N o Orbits  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 P a r t i a l Fabc  14  1  1  764.9  Small Fetus,  17 + 2  1  2  742 48  Banana Shaped Cerebellum  17 + 2  1  2  756.08  L e m o n S h a p e d Skull  17 + 2  1 1  2  741.94  Sacral Meningomyelocele  14  A b n 4 C h a m b e r V i e w o f H e a r t , (too s m a l l to c l a s s i f y )  1  10%centile  39561  17 + 2  2  No Other Fetal Anomalies S e e n Today  2  U / S at P e n t i c t o n  2  No Anomalies S e e n Today  39564  16  1 1  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 c o n s i s t e n t with C y s t i c H y g r o m a  16  39579  39701 15 + 6  14 + 1 w k  1  4  789 9  L a r g e Intraabdominal C y s t at C o r d Insertion  15 + 6  14 + 1 w k  1  4  751.58  Possible Mesenteric Cyst  15 + 6  1 4 + 1 wk  1  4  756.49  Impression: Skeletal Dysplasia  15 + 6  14 + 1 w k  1  4  753.71  Possible Urachal Cyst  15 + 6  14 + 1 w k  1  4  778.5  Scalp Edema  15 + 6  14 + 1 w k  1  4  752.08  Possible Ovarian Cyst  15 + 6  14 + 1 w k  1  4  756.08  15 + 6  1 4 + 1 wk  1  4  754.82  Bell S h a p e d Throax  15 + 6  14 + 1 w k  1  4  756.79  Thickening of Abdominal Wall  15 + 6  1 4 + 1 wk  1  4  755.88  All L o n g B o n e s a r e « 5 % c e n t i l e  23  19 + 1 wk  4  3  762.21  23  19 + 1 wk  4  3  23  19 + 1 wk  4  3  16  1  1  12 + 2  1  2  F o r e h e a d Appears Prominent  39702 Placental Resistance, Absent Ediastatic Flow N o F e t a l Abnormalities S e e n Other than IUGR 764.9  IUGR  39721 Apparently Normal G e s t a t i o n  39728 553.1  O m p h a l o c e l e , L a r g e A b d o m i n a l w a l l D e f e c t C o n s i s t e n t with,  39736  1 1  14 + 3 14 + 3  1  No G r o s s Fetal Anomalies S e e n  1  Cardiac Anatomy Poorly S e e n  39757  11  1 1  16 + 2 16 + 2  11  1  Uncomplicated Transcervical C V S  1  752.38  Acutely Retroverted, Retroflexed Uterus  4  t  750.7  No Stomach Could B e S e e n  4  1  753.20  Mild Distention o f R e n a l Pelvis  16 + 2  4  1  756.18  Distal Spine A p p e a r s S p l a y e d  16 + 2  4  1  753.69  Dilated Proximal Urethra  16 + 2  4  1  753.29  Double Collecting S y s t e m , R Side, Possibly Bilateral  16 + 2  4  1  789.9  Large Abdominal Cystic M a s s  16 + 2  4  753.88  Likely Dilated Bladder  16 + 2  4  754.03  Dolicocephalic Head  16 + 2  4  761.2  S e v e r e Oligohydramnios  16 + 2  4  1 1 1 1  753 0  Possible Renal Dysplasia, (hyperechogenic  3978S  parenchyma)  39794 19  17  1  1  756.61  Possible Diaphragmatic H e m i a  19  17  1  1  742.26  Holoprosencephaly  19  17  1  1  742.23  Hypoplastic Cerebellum  19  17  1  1  744.88  Nuchat E d e m a  19  17  1  756.08  Hypotelorism  19  17  1  16  14  3  4  16  14  3  4  764 9  IUGR  16  14  3  4  753.34  Fetal Kidneys Appear Enlarged  16  14  3  4  750.73  F e t a l S t o m a c h i s D i s p l a c e to t h e L S i d e o f C h e s t  16  14  3  4  756.61  Possible Diaphragmatic H e m i a  16  14  3  4  746.80  F e t a l H e a r t i s D i s p l a c e d to t h e R S i d e o f C h e s t  19  2  1  19  2  1  764.9  G r o w t h i s l e s s t h a n e x p e c t e d , h e a d & a b d . m e a s u r e ' n t s a r e l e s s t h a n 1 0 % t i l e although femur length a r e n o r m  19  2  In c o m b i n a t i o n with mild O l i g o h y d r a m n i o s  2  1 1  761.2  19  1 1  H e a r t A b n w i t h only 2 C h a m b e r s C l e a r l y S e e n  39819 Fetal Kidneys Appear Echogenic  39905 Single Live Fetus  S u s p i c i o u s for C h r o m o s o m a l A b n o r m a l i t y  39930  ?  15 + 1  I  ?  15+1  1  1 1  553.1  T h e U m b i l i c a l C o r d A p p e a r s to O r i g i n a t e out o f t h e M a s s , C o n s i s t e n t with O m p h a l o c e l e D u e to E a r l y G e s t A g e it i s difficult to s e e fetal d e t a i l w e l l  127  Ultrasound Findings  Appendix II Code  EGA  EGA  Amniotic  Method Narrow  Diagnosis:  Dates  U/S  Fluid  of TA  ?  15+ 1  1  1  7  15 + 1  1  1  ?  15 + 1  1  1  Difficult t o A s s e s s D e t a i l D u e to M a t e r n a l B o d y H a b i t u s  ?  15 + 1  1  1  N o Other G r o s s Fetal Anomaly is S e e n  7  15+1  1  1  A M i d l i n e M a s s A d j a c e n t t o A n t e r i o r A b d . Watt  ?  15+1  1  1  Imp: C a n B e A s s o c i a t e d w i t h C h r o m o s o m a l A b n .  14, 1 2 L o n g M . P .  t  4  14, 1 2 L o n g M . P .  1  4  14, 1 2 L o n g M . P .  1  4  753.71  Possibly Urachal Cyst  14, 1 2 L o n g M . P .  1  4  752.08  Possibly Ovarian Cyst  14, 1 2 L o n g M . P .  1  4  753.88  L i k e l y D i l a t e d B l a d d e r , 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 Long M . P .  228.1  Large Cystic Hygroma  No:  Code: D u e to M a t e r n a l B o d y H a b i t u s it i s difficult to s e e fetal d e t a i l 553.1  A n O m p h a l o c e l e S e e m s to b e P r e s e n t  30031 751.58  Possibly Mesenteric Cyst Difficult to A s s e s s K i d n e y  1  4  1 4 , 1 2 Long M . P .  1  4  Difficult t o A s s e s s H e a r t  15 + 3  1  1  No Fetal Anomalies S e e n Today  15 + 3  1  1  4 C h a m b e r V i e w of Heart O K  15 + 3  1  1  Short A x i s V i e w of Heart Not V i s u a l i z e d  19  1  2  756.02  Hypertelorism  19  1  2  747.38  S m a l l P u l m o n a r y A r t e r y , with S u b p u l m o n a r y M u s c l e  19  1  2  742.48  Posterior F o s s a Cyst  19  1  2  745.20  Imp: T e t r a l o g y o f Fallot  19  1  2  747.19  Large Overriding Aorta  19  1  2  745,49  VSD  16 + 6  1  2  16 + 6  1  2  755.88  R S i d e Limb Abnormality, hand adherent to h e a d  16 + 6  t  2  755.32  P o s s i b l e L e g A m p u t a t i o n at K n e e  16*6  1  2  762.8  Possible Amniotic B a n d Syndrome  16 + 6  1  2  553.1  P o s s i b l e O m p h a l o c e l e , with l i v e r in situ  16*6  1  2  742.09  L a r g e E n c e p h a l o c e l e with b r a i n a d h e r e n t to p l a c e n t a  16 + 6  1  2  740.01  Acram'a  1  2  741.99  Possible Spinal Dysraphism  30033  30043  30033  16 + 6  C o r o n a l V i e w Not S e e n  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 ( M a t . t o x o infection)  26 + 2  24  1  1  742.23  Cerebellar Hypoptasia/Degredation  26 + 2  24  1  1  742.48  S m a l l L a y e r o f C S F B t w n Skull & B r a i n T i s s u e  26*2  24  1  1  742.38  E n l a r g e d C i s t e r n a l M a g n a + 4th V e n t r i c l e  26*2  24  1  1  742.20  Generalized Cerebral Shrinking  22 + 5  21  1  2  764.9  A s y m m e t r i c a l I U G R , F e t a l Trunk < 1 0 % c e n t i l e  22 + 5  21  1  2  755.51  22 + 5  21  1  2  22 + 5  21  1  2  750.7  S t o m a c h Not W e l l S e e n  29 + 5  4  5  761.2  S e v e r e Oligohydramnios  29 + 5  4  5  754.22  Lordotic C u r v e o f Spine  29 + 5  4  5  756.08  Circular 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 b e Identified  29 + 5  4  5  756.7  Difficult t o Identify B o d y W a l l  29 + 5  4  5  762 6  Difficult t o Identify U m b i l i c a l C o r d  29 + 5  4  5  755.6  Pelvic 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 c o u l d not b e Identified  29 + 5  4  5  789.9  Difficult t o Identify Intraabdominal  34  1  2  553.1  Small Omphalocele  34  1  2  753.20  Bilateral M o d e r a t e  34  1  2  752.88  Ambiguous Genitalia  34  1  2  754.73  Club Feet  34  1  2  34  1  2  749.21  34  1  2  749.21  B i l a t e r a l Cleft L i p  34  1  2  756.08  Strawberry S h a p e d Skull  34  1  2  745.63  A V C a n a l Defect  27 + 2  5  3  755.28  A b s e n c e of R Ulnar B o n e , J u n e 2 2 e x a m  27*2  5  3  749.19  Cleft L i p s e e n J u n e 2 2 e x a m  27 + 2  5  3  764,9  Femur <10%centile  27 + 2  5  3  764,9  Head  27*2  5  3  745.49  VSD  27 + 2  5  3  747.32  Small P A ' s  27 + 2  5  3  747.21  Large Overriding Aorta  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  Fetal Hydrops  19 + 4  1  1  Short Axis V i e w o f Heart Poorly S e e n  19 + 4  1  1  2 A V v a l v e s with F o r a m e n Flags  40114  P o s s i b l e Chr. Abnormality C l e n c h e d L Hand, with Finger Overlapping  40130  Organs  40133  Hydronephrosis  Suggest: Trisomy 13 o f 18 B i l a t e r a l Cleft P a l a t e  40134  <10%centile  40113  40161  Ultrasound Findings  Appendix II Code  EGA  EGA  Amniotic  No:  Dates  U/S  Fluid  ot TA  1  1  19 + 4  Method Narrow  Diagnosis:  Code: C a r d i a c S c a n , T e c h n i c a l l y Difficult due to F e t a l P o s i t i o n  401 SO 16 + 4  16+1  1  1  778.0  Ascites  16 + 4  16+1  1  1  744.91  F a c e Pooriy S e e n  16 + 4  16+1  1  1  511.9  Pleural Effusion  16 + 4  16+1  1  1  553.1  16 + 4  16 + 1  1  1  9 + 5  13  1  4  9 + 5  13  1  4  L a r g e O m p h a l o c e l e with B o w e l a n d L i v e r Inside Heart Poorly S e e n  401 S3 740.01  Acrania F e t a l S i z e C o r r e s p o n d s to 1 3 w e e k s  40186 16+1  1  1  19 + 3  1  2  746.08  Apparently Normal G e s t a t i o n  Pulmonary V a l v e L o o k s Atictic with small M P A  19 + 3  1  2  746.2  Probably Ebsteins Anomaly  19 + 3  1  2  746 00  Suggest Pulmonary Valve Atresia  19 + 3  1  2  746.88  Large R A Ductus Angle  19 + 3  1  2  746.1  Abnormal Tricuspid Valve  18 + 3  1  2  742 26  F u s e d Thalami with Monoventricle  18 + 3  1  2  764 9  I U G R , growth <10%centile  18 + 3  1  2  742.1  Microcephaly  18 + 3  1  2  750.7  N o S t o m a c h Bubble S e e n  18 + 3  1  2  18 + 3  1  2  756 08  Hypotelorism  18 + 3  1  2  742.26  Semilobar Holoprosencephaly  18 + 3  1  2  756.08  M i d l i n e D e f e c t S u s p e c t e d in M a x i l l a  18 + 3  1  2  745.4  N o Ventricular Septum S e e n  18 + 3  1  2  755.51  Bilateral 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  Possible Posterior Falx  17 + 6  1  2  755.51  B o t h H a n d s A p p e a r A d d u c t e d 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  11+4  1  4  11+4  1  4  25 + 4  4  2  25 + 4  4  2  753.18  S m a l l C y s t s S e e n in R e n a l F o s s a e  25 + 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  25 + 4  4  2  751 5  Possible Dilated B o w e l  25 + 4  4  2  753 48  Possible Dilated Ureters  25 + 4  4  2  753.8  B l a d d e r not v i s u a l i z e d  25 + 4  4  2  748.51  A s s o c i a t e d Lethal Pulmonary Hypoplasia  25 + 4  4  2  753.00  N o Normal Appearing Renal Structures S e e n  25 + 4  4  2  13 + 3  1  1  779.9  N o Fetal Heart Beat, IUD  13 + 3  1  1  778.0  Fetal Hydrops  22  4  2  761.2  S e v e r e Oligohydramnios  22  4  2  756.08  Abnormal H e a d S h a p e  22  4  2  759.89  Possible Meckel Gruber Syndrome  22  4  2  747.2  Unable to s e e Proper Aortic 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  Small Anterior & Possible Posterior Cephaloceles  22  4  2  22  4  2  750.7  N o S t o m a c h Bubble S e e n  22  4  2  753.20  Moderate Bilateral Hydronephrosis  22  4  2  753.13  Polycystic Kidney  22  4  2  755.38  Fetal Femur <10%centile  22  4  2  756.08  Abn Head Shape  19 + 3  2  2  761.2  O l i g o h y d r a m n i o s i s p r e s e n t to s a m e d e g r e e after a m n i o infusion  19 + 3  2  2  759.18  S e c o n d a r y Adrenal Hypertrophy  19 + 3  2  2  753.00  Suggestiv Renal Agenesis  19 + 3  2  2  753.00  Suggestive Dysplastic Kidneys  19 + 3  2  2  753.88  Very Small Bladder  19 + 3  2  2  23  1  2  747.5  23  1  2  747.48  Bilateral Superior V e n a e C a v a e  23  1  2  742.39  Hydrocephalus  23  1  2  759.30  Dextrocardia  23  1  2  747.28  L Sided Aorta  23  1  2  742 48  S e p t u m P e l l u c i d u m Not S e e n  23  1  2  747 38  Smaller Pulmonary Artery  40187  40311  Single A V V a l v e  4031S  Difficulty E n c o u n t e r e d in A s s e s s m e n t o f F e t a l D e t a i l s  40356 Fetal Size Corresponds With Dates 753.8  Prominent Fetal Bladder S e e n  40366 Imp: C l o a c a l D i s o r d e r  v i s u a l i z a t i o n Difficult d u e t o M a t e r n a l B o d y H a b i t u s  40370  40372  L a r g e B l a d d e r that d i d not empty during e x a m  40375  K i d n e y s s e e m t o b e p r e s e n t but difficult to a s s e s s due to h y p e r e c h o g e n i c i t y  40514 2 Vessel Cord  129  Appendix II Code  EGA  U l t r a s o u n d Findings EGA  Amniotic  U/S  Method Narrow  Diagnosis:  Fbid  of TA  23  1  2  746.00  23  1  2  745  23  1  2  746.88  Smaller Morphological R Ventricle  23  1  2  745.49  VSD  23  1  2  23  1  2  759.30  1  756.08  Proboscis  742.26  Alobar Holoprosencephaly  No  Dates  Code  11  S m a l l A t r e t i c P u l m o n a r y Vahv'e D o u b l e Outlet Right V e n t r i c l e  S i t u s Indeterminate Situs Inversus  40131 17  14 + 1  1  17  14 + 1  1  17  14+1  1  17  14* 1  1  1 1 1  17  14+1  1  17  14+1  17  14 + 1  17  H e a r t Difficult t o A s s e s s 747.5  Single Umbilical Artery  1  755.09  Polydactyly  1  1  742.48  Ethmocephaly with Hypotelorism  1  742 48  P r e s e n c e o f a D o r s a l S a c Communicating with Monoventricular Cavity  14 + 1  1 1  1  742 48  Abn Cerebral Cortex  17  14 + 1  1  1  742 48  F u s e d Thalmi with n o F a l x D e m o n s t r a t e d  17  14 + 1  1  1  742 48  Monoventricular Cavity  17  14 + 1  1  1  742 48  A b n Midline Structures  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  Blood Clot Organized in Fundus  16 + 3  4  1  742 48  A b n o r m a l Fluid C o n t a i n i n g 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 Oligohydramnios  16 + 3  4  1  742.26  Suggested Alobar Holoprosencephaly  40140  40117 13  11-12  1  4  13  11-12  4  754 22  T h r o a x a n d A b d o m e n A p p e a r to b e D o u b l e d o n t o t h e h e a d  13  11 - 1 2  1 1  4  755 38  Only o n e L o w e r Limb S e e n  13  11-12  1  4  789.9  Difficult to m a k e a s s e s s m e n t o f A b d o m i n a l S t r u c t u r e s  13  11-12  1  4  756.1  S p i n e C a n n o t b e T r a c e d i n i t s entirety  20  4  1  20  4  1  759.7  20  4  1  754 73  Likely Club Foot, R S i d e  20  4  f  756.15  M i d T h o r a c i c Kink i n S p i n e P r o b a b l y D u e to 1/2 V e r t e b r a e  20  4  20  4  1 1  7538  B l a d d e r not s e e n t o d a y  20  4  1  761.2  S e v e r e Oligohydramnios  20  4  1  778.0  Massive Ascites  20 + 2  1 1  1  742.39  E v i d e n c e o f Increased Lateral Ventricles, Bilateral  1  742.39  Hydrocephalus  Possible Meningocele or encephalocele  40106 Difficurt E x a m B e c a u s e o f M a t e r n a l S i z e a n d O l i g o h y d r a m n i o s  753.01  Imp: P r o b a b l e U r i n a r y A s c i t e s , A n h y d r a m n i o s a n d H e m i v e r t e b r a e  R K i d n e y not s e e n  40307  20 + 2 40714 17  16  1  1  17  16  1  1  228.1  Large Cystic Hygroma  17  16  1  1  778.5  Generalized Skin E d e m a  17  16  1  1  511.9  Pleural Effusions  17  16  1  1  753 20  Bilateral Hydronephrotic a n d E d e m a t o u s k i d n e y s  17  16  1  1  754.73  Clubbing of Both Feet  33 + 6  1  2  755.51  33 + 6  1  F i n e D e t a i l S t u d y Difficult t o F e t a l P o s i t i o n  40713 Clenched Hands Abn. Growth  33 + 6  1  2  746 7  Hypoplastic L Heart  33 + 6  1  2  755.51  Overriding Fingers  33 + 6  1  2  778.6  Possible Hydrocele  33 + 6  1  2  553 1  Small Omphalocele  33 + 6  1  2  742.38  Dilated 3rd Ventricle, Cisterna M a g n a + Occipital Horns  33 + 6  1  742.23  Deffuse Cerebellar Atrophy  33 + 6  1  2  742.20  Diffuse C e r e b r a l A t r o p h y  33 + 6  1  2  742.42  Choroid Plexus Cyst  33 + 6  1  2  33 + 6  1  33 + 6  1  2  16  1  1  1 1  1  Trunk a n d F e m u r a r e 3 0 w k s i z e 753 38  Malrotated L Kidney  756.08  Fetal H e a d i s 41 - 4 2 w k size  40710 F e t a l G r o w t h C o r r e s p o n d s to D a t e s  40720 18 + 3  15+1  18 + 3  15+1  1  228.1  C y s t i c H y g r o m a , with p o s t e r i o r N u c h a l S k i n E d e m a Other Details Not Obtained  40743  ?  14 + 3  1  7  14 + 3  1  1 1  16 + 2  1  16 + 2  1  16 + 2  228 1  N u c h a l E d e m a ( 7 mm) Identified (- C y s t i c H y g r o m a )  762 8  A r e a o f unfused A m n i o n noted  1  75661  Likely Diaphragmatic Hernia  1  750.7  F e t a l S t o m a c h at S a m e L e v e l a s F e t a l Heart  1  1  746 80  H e a r t i s Slightly C h y e l a c e d t o Right  26 + 3  6  2  748.51  Lethal Pulmonary Hypoplasia  26 + 3  6  2  75551  Hands Appear Fixed in O p e n Position  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 S k u l l Deformity  40743  40743  130  Ultrasound Findings  Appendix II Code No:  EGA Dates  EGA U/S  Amniotic Fluid  Method Narrow ot TA  Diagnosis:  Code:  26 + 3  761.3  Polyhydramnios  26 + 3  756.44  Impression: Thanatophoric Dwarfism  26 + 3  754.82  Small Bell S h a p e d C h e s t  28 + 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 R e t a r d a t i o n , a b d o m e n c i r c u m f e r e n c e at 2 2 w k s  28 + 3  Suggestive o f C h r o m o s o m e Abnormality  N o Fetal M o v e m e n t s During E x a m  23 + 3 23 + 3  750.30  Possible Esophageal Atresia  23 + 3  750.7  N o Stomach Seen Today  23 + 3  746.88  Pericardial Effusions  23 + 3  511 9  Pleural Effusions  23 + 3  757.39  Anasarca  23 + 3  746.77  Absent Diastolic Flow  23 + 3  778 5  Generalized Skin Edema  23 + 3  754 73  S u s p e c t e d Bilateral Club Feet  23 + 3  778.0  Ascites  742 48  Thalami appear rounder than usual  742 48  Fluid Filled S t u c t u r e s O c c u p y i n g T e m p o r a l , F r o n t a l a n d to a l e s s e r d e g r e e O c c i p i t a l A r e a s  742 48  A b n . Intracranial A n a t o m y  756 08  A b n o r m a l H e a d S i z e (< 1 0 % c e n t i l e )  742.26  Imp: A l o b a r o r L o b a r p r o s e n c e p h a l y  19  744.88  Increased Nuchal Thickening  19  756.08  19  Intraorbital D i a m e t e r < 5 % c e n t i l e 4 chamber v i e w of Heart Not Obtained A V vatves Hyperechogenic  26 + 5  23-24  741 05  26 + 5  23-24  742.20  C e r e b e l l u m i s not v i s u a l i z e d  26 + 5  23-24  741.05  T h e l o w e r s p i n e from a p p r o x . L1 i s a b n o r m a l with d y s r a p h i s m  26 + 5  23-24  764 s  26 + 5  23-24  26 + 5  23-24  741.05  Lower spine, a small meningocele  26 + 5  23-24  754 20  S c o l i o s i s , lower spine  26 + 5  23-24  755.51  Both Fists are clenched  26 + 5  23-24  764.9  F e t a l H e a d a n d Trunk m e a s u r e b e l o w t h e 1 0 t h centile for g e s t . a g e  26 + 5  23-24  754.73  Both Feet are clubbed  M i l d - M o d e r a t e V e n t r i c u l o m e g a l y o f lateral v e n t r i c l e s - N o D i l a t a t i o n o f 3 r d V e n t r i c l e  H e a d at t h e m e a n for 2 3 w k s w h i l e trunk at t h e m e a n for 2 4 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 - single t a p  753.88  Large Fetal Bladder P o s s i b l e Outlet O b s t r u c t i o n  228.1  Cystic Hygroma Probable C h r o m o s o m e Abnormality  228.1  Cystic Hygroma  778.5  Gross Generalized Edema  778.5  Generalized Subcutaneous Edema, Around H e a d and Neck  21+6  20 + 2  742.38  Mild Lateral Ventricular Dilation  21+6  20 + 2  742.48  Abnormal Cerebrellar Region  21+6  20 + 2  21+6  20 + 2  742.28  Obliterated C i s t e m a M a g n a  21+6  20 + 2  756.08  L e m o n S h a p e d Skull  Small Lumbosacral Meningocele  U/S Confirms Menstral Dates  742.48  F u s i o n o f Thalmi  742.26  Single Anterior Ventricle  17  742.26  Imp: H o l o p r o s e n c e p h a l y  17  749.29  S t r o n g S u s p i c i o n o f Cleft L i p  17  749.29  S t r o n g S u s p i c i o n o f Cleft P a l a t e  742 48  Brain is Grossly Abnormal  N o F e t a l A b n o r m a l i t y Identified Size = Dates  Anterior Omphalocele Containing Liver  23  750.7  S t o m a c h N o t Identified  23  746.88  W a l l o f L Ventricle Appears Thickened  23  753.8  Bladder ? Present  23  753.00  K i d n e y s not P o s i t i v e l y Identified  23  761.2  S e v e r e Oligohydramnios  23  746 88  Heart R Ventricle A p p e a r s Dilated  20 + 4  779.9  20 + 4  742 39  Moderate Ventriculomegaly  20 + 4  747.5  P o s s i b l e Single Umbilical Artery  IUD  Appendix II  Ultrasound Findings Method Narrow  Code  EGA  EGA  Amniotic  No:  Dates  U/S  Fyd  of TA  17 + 3  1  2  17  1  1  17  Diagnosis:  Code:  41002 Apparently Normal Gestation  41013 Increased Risk o f Aneuploidy  1  1  751,24  Possible Anal Atresia  17  1  1  228 1  Cystic Hygroma  17  1  1  751,58  Dilated Tortuous Rectosigmoidal Colon  17  1  1  777.6  Suggested M e c o n i u m Peritonitis  17  1  1  764 9  F e t a l S i z e at 1 0 % c e n t i l e  17  1  1  751.5  Echogenic Bowel  16  1 1  1  762.2  Large Placental Lake is Present  16  1  764 9  IUGR  16  1  1  553.1  Large Omphalocele Containing Stomach a n d Liver  16  1  1  16  1  1  753.8  B l a d d e r not identified with certainty  16  1  1  753 00  K i d n e y s not identified with certainty  16 + 5  1  2  740,01  Acrania/ Exencephaly  16 + 5  1  2  18  4  t  756.12  Thoracic Kyphosis  18  4  1  753 00  K i d n e y s not Identified  18  4  1  553.1  Large Omphalocele  18  4  1  754.73  R Clubbed Foot  18  4  1  755 38  D e p e n d e n t L T i b / F i b / F o o t N o t Identified  18  4  1  754,03  Severe Dolioocephaly  18  4 4  1 1  744 8  18 18  4  1  761.2  11+6  1  1  16 + 5  3  1  761.2  16 + 5  3  1  758.69  Impression: Turners Syndrome  16 + 5  3  1  228.1  Moderate Size Cystic Hygroma  16 + 5  3  1  16 + 5  3  1  751.5  Echogenic Bowel  41023  4 c h a m b e r v i e w o f h e a r t not s e e n  41030  N o o t h e r fetal a n o m a l i e s s e e n t o d a y  41031  F a c e c o u l d not b e p o s i t i v e l y e x a m i n e d H e a r t c o u l d not b e p o s i t i v e l y identified S e v e r e Oligohydramnios  41037 Normal Fetal Growth  41040 Moderate Oligohydramnios  H e a r t i s Difficult t o A s s e s s  41033 30 + 4  29  5  3  747.5  2 Vessel Cord  30 + 4  29  5  3  764 9  Growth Retardation  30 + 4  29  5  3  746.88  Large L Ventricle  30 + 4  29  5  3  745.49  VSD  30 + 4  29  5  3  746,1  Tricuspid Atresia  17 + 4  16+ 1  4  1  753 00  No Renal Structures S e e n  17 + 4  16 + 1  4  1  761.2  S e v e r e Oligohydramnios  17 + 4  16+ 1  4  1  753,00  Impression: Bilateral R e n a l A g e n e s i s  '  41034  41063  1  756 44  Imp: C o n s i s t e n t w i t h T h a n a t o p h o r i c D y s p l a s i a . T y p e I  1  756 44  S e v e r e M i c r o m e l i c D w a r f i s m (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 t h e 1 0 % c e n t i l e )  19 + 3  1 1  1  755 88  Long Bones are Bowed  19 + 3  1  1  O s s i f i c a t i o n o f B o n e s , Skull, & V e r t e b r a e i s N o r m a l  19 + 3  1  1  S k u l l S h a p e a n d Intracranial S t r u c t u r e s a r e N o r m a l  19 + 3  1  19 + 3  1  1 1  17+1  1  1  No Fetal Anomalies S e e n Today  16+1  1  1  Size and Anatomy Appear Normal  11  1  2  N o S a f e S i t e A v a i l a b l e for C V S - r e b o o k e d for g e n e t i c a m n i o  11  1  2  U / S Confirms Menstral D a t e s  11  1  19 + 5  1  19 + 5  1  19 + 5  1  19 + 5  1  19 + 3 19 + 3  Fetal Movement Noted 754.82  Bell S h a p e d Thorax D u e T o Rib C a g e Narrowing  41076  41033  41037  U t e r u s R e t r o v e r t e d with ? l a r g e ant. fibroid o r uterine c o n t r a c t i o n  41005  1  1 1  754.73  Bilateral Club Feet  741,99  S p i n a l D y s r a p h i s m at T 1 0  756,08  A s s o c i a t e d L e m o n S h a p e d Skull  741.01  Arnold Chiari Malformation  742,39  Ventriculomegaly  764,9  H e a d B i o m e t r y at 1 0 % c e n t i l e  Cystic Hygroma  19 + 5  1  19 + 5  1  1 1 1  16 + 1  3  1  228.1  16 + 1  3  1  778.0  Fetal Hydrops  16 + 1  3  1  761.2  Moderate Oligohydramnios  15 + 6  1  1  16 + 1  1  2  41214  41210 Size a n d Anatomy Appear Normal  41220 753.8  F e t a l B l a d d e r not S e e n  Appendix II  U l t r a s o u n d Findings  Code  EGA  EGA  Amniotic  No:  Dates  U/S  Fluid  Method Narrow of TA  Code:  Diagnosis:  16 + 1  1  2  750.7  F e t a l S t o m a c h not S e e n  16 + 1  1  2  754.73  Both Feet Appear Clubbed  16+ 1  1  2  16+1  1  2  16+1  1  2  Imp: S u s p e c t A r t h r o g r y p o s i s / P t e r y g i u m S y n d r o m e o r R i s k o f C h r o m o s o m e A b n  16+1  1  2  N o movement o f extremities  16 + 1  1  2  778.0  Ascites Suspected  16 + 1  1  2  511.9  Minimal Bilateral Pleural Effusions S u s p e c t e d  16 + 1  1  2  755.88  Limbs are Flexed  16+ 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  Short A x i s V i e w of Heart C o u l d Not B e Visulaized, P o s s i b l e Anomaly S u s p e c t e d 755.51  F e t a l H a n d s a r e F l e x e d a n d Immobile  seen  41229 16 + 5  1 5 * 1/2  1  1  778.0  Fetal Hydrops  16 + 5  1 5 * 1/2  1  1  778.5  Generalized Subcutaneous Edema  16 + 5  1 5 * 1/2  1  1  778.0  Fetal Ascites  16 + 5  1 5 * 1/2  1  1  511.9  Pericardial Effusion  13 + 4  1  1  228.1  C y s t i c Hygroma for Occiput to M i d A b d o m e n  22 + 1  1  1  748.10  Absent N a s a l Septum a n d N a s a l Structures  22 + 1  1  749.29  Cleft P a l a t e  22 + 1  1  1  743.67  H y p o p l a s t i c Orbit o n R ( p o s s i b l e soft t i s s u e m a s s o r p r o m i n e n c e )  22 + 1  1  1  743.67  H y p o p l a s t i c Orbit o n L w i t h G l o b e N o t S e e n  22+ 1  1  1  742.48  A b s e n t Fafx  22+1  1  1  742.48  Normal Thalamus a n d Midbrain Structures Not S e e n  22 + 1  1  1  74 2 48  L a r g e Rt Lateral Ventricle W h i c h C r o s s e s Midline  22 • 1  1  1  742 48  Small L Lateral Ventricle  22 + 1  1  1  742.20  Disorganized and Hypoplastic Cortical Tissue L Cerebrum  22 • 1  1  1  742.1  Microcephaly  22 + 1  1  1  742.48  Imp: S e v e r e F o r e b r a i n a n d F a c i a l A n o m a l i e s  22+1  1  1  749.29  Cleft L i p  41211  41235  • 1  41267 15 + 3  14  3  1  761.2  Moderate  15 + 3  14  3  1  744.88  N u c h a l E d e m a from H e a d to T h o r a x  15 + 3  14  3  753.88  G r o s s l y Distended Fetal Bladder  15 + 3  14  3  1 1  15 + 3  14  3  1  753.3  Possible Hypoechogenic L Kidney  15 + 3  14  3  1  778.0  Ascites  16  1  1  16  1  1  16  1  1  16  1  1  16  1  1  742.42  Bilateral 8 mm C h o r o i d Plexus C y s t s  17  2  2  740.01  Exencephaly (Acrania)  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 involving C e r v i c a l a n d Thoracic Spine  17  2  2  17  2  2  17  2  2  N o Other Anomalies S e e n  10 + 5  1  1  Ultrasound Confirms Menstral D a t e s  742.42  Oligohydramnios  Bilateral C h o r o i d Plexus C y s t s  41230 A b n o r m a l H e a r t ? Left S i d e 553.1  L a r g e O m p h a l o c e l e - c o n t a i n s l i v e r predominantly Abnormal Heart, Small Aorta Fetal Growth i s Appropriate F o r D a t e s  41234  E x a m i n a t i o n o f a n a t o m i c detail i s s u b o p t i m a l d u e t o m a t e r n a l b o d y h a b i t u s a n d l o w a m n i o t i c fluid 553.1  Suspect A Small Omphalocele  41290  41200 15 + 5  12*4/14*4  1  4  779.9  Intrauterine D e m i s e  15 + 5  12*4/14*4  1  4  744.88  Nuchal Translucency  15*5  12*4/14+4  1  4  756.15  Spine Widening in Throacic Region  15 + 5  12*4/14*4  1  4  756.08  H e a d measured - 1 2 + 4 wks size  15*5  12+4/14+4  1  4  15*5  12*4/14+4  1  4  756.08  Hypoplastic Skull B o n e  1  1  756.71  G a s t r o s c h i s i s , Anterior B o d y W a l l Defect  Femur measured - 1 4 + 4 wks size Appearance  41400 18 41404 23  23  1  2  23  23  1  2  741.00  Ventriculomegaly  23  23  1  2  756.08  Lemon Sign  23  23  1  2  754.73  Bilateral Club Feet  23  23  1  2  741.00  23  23  1  2  19  16 + 6  1  1  756.08  L e m o n S h a p e d Skull  19  16 + 6  1  1  741.01  Ventriculomegaly  19  16 + 6  1  1  19  16 + 6  1  1  756.12  Kyphoscoliosis  19  16 + 6  1  1  756.18  Hemivertebrae  19  16 + 6  1  1  754.22  Acute Curvature of Spinal C o r d  19  16 + 6  1  1  742 48  Banana Shaped Cerebellum  19  16 + 6  1  1  741.01  Meningomyelocele  19  16 + 6  1  1  741.01  Arnold Chiari Malformation  N o Other Anomalies S e e n  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 A m n i o - S i n g l e C l e a r T a p , F / H +ve after  41427  41431  H e a r t Difficult t o S e e  133  Appendix II  Ultrasound Findings  EGA  EGA  Amniotic  Dates  U/S  Fluid  of TA  Code;  18-19  16+1  4  2  753.00  18-19  16 • 1  4  2  761.2  S e v e r e Oligohydramnios  18-19  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 D i l a t e d B o w e l N o t N o r m a l B l a d d e r  18-19  16 + 1  4  2  750.7  S t o m a c h m a y be p r e s e n t  18-19  16 + 1  4  2  751.5  18-19  16+ 1  4  2  C i s t e r n a M a g n a Not S e e n  18-19  16*1  4  2  Heart Detail Not S e e n  18-19  16+1  4  2  18-19  16* 1  4  2  18-19  16+1  4  2  1 1  16*2 16*2  Method Narrow  ,  Diagnosis:  N o Definite K i d n e y s  Echogenic Bowel  Difficult t o A s s e s s F e t a l A n a t o m y 764.9  Asymmetrical IUGR Cerebellum Not S e e n  744.88  Increased Nuchal Thickening  1  4 C h a m b e r V i e w o f H e a r t C o u l d Not B e S e e n  ,  3  All S t r u c t u r a l C a r d i a c A n a t o m y S e e n a n d A p p e a r N o r m a l  1  3  No O b v i o u s F e a t u r e s of Down's S y n d r o m e by U / S  ,  19*3  16 + 3  4  19*3  16 + 3  4  19 + 3  16 + 3  4  19*3  16 + 3  19 + 3  764.9  I U G R , F e 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  761.2  S e v e r e Oligohydramnios  4  1 1 1  16 + 3  4  18 + 2  17* 1  18 + 2  17+1  753.00  Impression: Bilateral R e n a l A g e n e s i s  753.8  No Fetal Bladder Visualized  1  753.0  No Fetal Kidneys Visualized  ,  ,  756.61  L Diaphragmatic H e m i a  1  1  746.80  D e x t r a p o s i t i o n o f the H e a r t  17  ,  ,  749.11  B i l a t e r a l Cleft L i p s  17  1  1  746.88  Possible Hypoplastic L Ventricle  17  1  1  746.88  Possible Hemiventricle  23* 1  4  3  74S.88  Enlarged R Ventricle  23* 1  4  3  228.1  Large Cystic Hygroma  23 • 1  4  3  778.5  E d e m a E n c o m p a s s i n g the E n t i r e F e t a l B o d y  23+1  4  3  511.9  P l e u r a l Effusion  23+1  4  3  746.6  Abnormal Mitral V a l v e  23+1  4  3  746.88  Enlarged R Atruim  23* 1  4  3  746,88  Small L Ventricle  23 + 1  4  3  746.88  Small L Atrium  23 + 1  4  3  778.0  Ascites  17 + 1  ,  2  742,48  Banana Sign Present  17 + 1  i  2  741,99  Spinal L e s i o n , Starting L 3 - S a c r a l  17 + 1  1  2  756.08  L e m o n Sign, Abnormally S h a p e d H e a d  25-26  ,  2  25-26  i  2  25-26  i  25-26  i  2  755.51  Hand Arthrogryposis  25-26  1 1  2  754.82  Very Small Thorax  2  756 44  I m p r e s s i o n : T h a n a t o p h o r i c D w a r f i s m or O t h e r S k e l e t a l D y s p l a s i a  2  754.73  Clubbed Feet  25-26 25-26  Normal Mineralization 755.88  Mild Bowing  755,88  All E x t r e m i t i e s S e v e r e l y a n d Diffusely s h o r t e n e d with n o f r a c t u r e s  17 + 4  ,  1  746.88  Large R Ventricle  17 + 4  i  1  753.20  Moderate Fetal Hydronephrosis, Bilateral  17 + 4  i  1  746.7  Impression: Hypoplastic L Heart  17 + 4  1  746.86  Prominent ? Papillary M u s c l e s  17 + 4  1 1  1  745.63  Probable A V Septa! Defect  17 + 4  1  '  746,88  Hypoplastic L Ventricle  19  3  1  19  4 C h a m b e r v i e w o f h e a r t i s t e c h n i c a l l y difficult, 4 c h a m b e r s a n d 2 grt v e s s e l s identif  1  753.00  Probable Dysplastic Renal Development  19  3  1  753.8  P o s s i b l e s m a l l bladder s e e n  19  3  1  753.00  N o normal renal structures s e e n  19  3  19  3  1  19  3  1  12 + 3  1 1  1  744.88  13 mm Nuchal Thickening  12 + 3  1  228.1  Cystic Hygroma  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 D a t e s  12 + 3  '  1  Imp: A s s o c i a t e d w i t h C h r o m o s o m a l A n o m a l i e s  T e c h n i c a l l y Difficult C a r d i a c S c a n  1 756.0  Spine S e e n with Normal A p p e r a n c e 4 C h a m b e r s A n d 2 G t V e s s e l s Identified  18  1 8 + 1 wk  3  2  752,88  ? Ambiguous Genitalia  18  1 8 + 1 wk  3  2  762.8 ??  R e t r o m e m b r a n a l C l o t o n t h e R - P o s t . W a l t ( 6 x 3 cm)  18  1 8 + 1 wk  3  2  753.20  18  1 8 + 1 wk  3  2  18  1 8 + 1 wk  3  2  761.2  Moderate Oligohydramnios  18  1 8 + 1 wk  3  2  753.32  L Kidney 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 Heart A n o m a l y  R F e t a l H y d r o n e p h r o s i s ( m e a s u r e d 18 X 1 0 m m , S e v e r e ) 4 C h a m b e r Heart Not W e l l S e e n  134  Ultrasound Findings  Appendix II Code  EGA  EGA  Dates  U/S  24 24  Amniotic  Metnod Narrow  Diagnosis:  Fluid  of TA  22+1/2  1  2  2 2 + 1/2  1  2  746.1  T r i c u s p i d V a l v e T h i c k e n i n g with g o o d m o t i o n  24  2 2 + 1/2  1  2  752.86  Possible Ambiguous Genitalia  24  2 2 + 1/2  1  2  742.38  Enlarged C y s t e m a M a g n a  24  2 2 + 1/2  1  2  750.7  S t o m a c h Not S e e n  24  2 2 + 1/2  1  2  742.38  Mild Dilation of Lateral Ventricles  24  2 2 + 1/2  1  2  764.9  F e t u s at t h e 1 0 % c e n t i l e for g e s t a t i o n a l a g e  24  22+1/2  2  753.20  Mild Bilateral Hydronephrosis  24  22+1/2  1 1  2  742.48  Widening o f S p a c e Btwn Cerebellar Hemispheres  1  740.02  Anencephalic Fetus  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 c y s t i c m a s s with s o l i d c o m p o n e n t s  No:  Code:  41640 No Obvious A S D or V S D  41667 14 + 3  1  18 + 1  1  15 + 6  1  3  20+1  1  2  754.73  P o s s i b l e Club Feet  2  754.22  Unusual Lordosis/Scoliosis Pattern of Spine  2  747.21  Possible Mild Hypoplasia of Aorta  2  511.9  Pleural Effusions  2  778 0  Abdominal Ascites  41678 1  No Fetal Anomalies S e e n Today  41698  20+1  1 1 1 1 1  2  228.1  Large Cystic Hygroma  20 + 1  1  2  778.0  H y d r o p s Affecting t h e Entire Trunk  21 + 1  1  Bilateral Club Feet  1  511.9  Pleural Effusions  21 + 1  1  1 1 1  754.73  21 + 1  746.88  Pericardial Effusions  21 + 1  1  1  778.0  Ascites  21 + 1  1  1  228.1  Large Cystic Hygromal From H e a d to Abdomen  17 + 3  1 1  2  741.99  Likely N T D , lower spine a p p e a r s s p l a y e d  17 + 3  2  745.20  17 + 3  1  2  746.86  E c h o g e n i c Papillary M u s c l e s  17 + 3  1  2  747.38  Small Pulmonary Artery  17 + 3  1  2  746.88  Small R Ventricular Outflow Tract  17 + 3  1  2  747.26  Large Aorta Overriding the Septum  17 + 3  1  2  745.49  VSD  17 + 3  1  2  742.39  Fetal Ventriculomegaly  17 + 3  1  2  756.12  K y p h o s i s ( W h a t a p p e a r s to b e h e m i v e r t e b r a e )  10 + 3  1  1  3  753.88  3  753.16  R K i d n e y i s R e p l a c e d by a C y s t i c M a s s  3  753 20  Mild L R e n a l Pelvis Dilatation  22 + 2  1 1 1 1  3  778,0  Mod. - Severe Ascites  17  1  1  740 02  Anencephaly  20+1 20+1 20+1 20+1  41811  41814  P r o b a b l y T e t r a l o g y o f Fallot  41817 U/S Gestation = Dates  41869 22 + 2 22 + 2 22 + 2  Bladder W a l l is Thickened  41876  41878 16  15 + 1  2  2  756.08  Abnormally S h a p e d H e a d  16  15 + 1  2  2  761.2  Mild Oligohydramnios  16  15 + 1  2  2  778.0  Fetal Hydrops  16  15 + 1  2  2  ??  Anorarea  16  15 + 1  2  2  778.0  Ascites  16  15 + 1  2  2  762.8  Complete Separation of Amnion  16  15+1  2  2  746.86  16  15+1  2  2  16  15 + 1  2  2  511.9  Pleural Effusions  18 + 3  17 + 1 w k  18 + 3  17 + 1 w k  1 1  18 + 3  1 7 + 1 wk  Echogenic Myocardium 4 C h a m b e r V i e w o f Heart Not S e e n  41882 1  740.01  Fetal Acrania/Exencephaly  741.90  R a c h i s c h i s i s upper cervical spine  1  1 1  764.9  I U G R , S i z e consistent with 17 w k s  17  1  2  754.73  S u s p e c t e d Bilateral Club Feet  17  1  2  747.21  Suspected Hypoplastic Aorta  17  1  2  746.88  S u s p e c t e d Hypoplastic L Ventricle  17  1  2  753.0  Fetal Kidney Not W e l l S e e n  17  1  2  753.8  Fetal Bladder Not S e e n  17  1  2  750.7  F e t a l S t o m a c h Not S e e n  17  1  2  228.1  Large Extensive C y s t i c Hygroma, Surrounding H e a d , Neck, Thorax a n d A b d o m e n  17  1  17  1  1 1  41886  42018 Fetal Size Appropriate F o r Dates No Anomalies S e e n Today  42023 17 + 2  16  1  1  17 + 2  16  1  1  753.20  M i n . Bilat. R e n a l P e l v i s D i l a t i o n No Abnormalities S e e n Today  42033 18 + 4  1  3  C a r d i a c S c a n : T h e cardiac structures a n d connections a r e normal  Appendix II  Ultrasound Findings  Code  EGA  EGA  No:  Dates  U/S  Amniotic  Metriod Narrow  Fluid  of TA  18 + 4  1  3  18 + 4  1  3  Diagnosis:  Code: Dichorionic Twins - normal growth x 2 759.30  Situs Inversus Totalis onfirmed in both twins  18 + 4  1 1 1 1 1  3  26 + 1  23 + 2  34  2  26+1  23 + 2  34  2  754.73  Possible Club Feet  26 + 1  23 + 2  34  2  756.08  Brachycephalic Head Shape  26 + 1  23 + 2  34  2  749.19  Prominent C S P  26 + 1  23 + 2  34  2  761.2  Mod. T o S e v e r e Oligohydramnios  26 + 1  23 + 2  34  2  26 + 1  23 + 2  34  2  789.5  Cystic A r e a in Pelvis  26 + 1  23 + 2  34  2  747.5  Single Umbilical Artery  26 + 1  23 + 2  34  2  764 9  Severe Symmetric IUGR  26+1  23 + 2  34  2  744.9  F a c e Not S e e n  26 + 1  23 + 2  34  2  756.61  Suspected Diaphragmatic Hernia  1 1 1 1  751.5  Echogenic Bowel  746.80  H e a r t D e v i a t e d t o Right  747.5  2 Vessel Cord  756.61  P r e s u m e d D i a p h r a g m a t i c H e r n i a , w i t h S t o m a c h a b o v e d i a p h r a g m o n Left  744.88  Significant N u c h a l E d e m a  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 v e n t r i c l e , n o midline)  764.9  Severe IUGR  18 + 4 18 + 4 18 + 4 18 + 4  3  N o o t h e r fetal a n o m a l y s e e n t o d a y  3  N o r m a l A m n i o t i c Fluid V o l u m e x 2  3  The Cervix is Long a n d C l o s e d S u g g e s t F o l l o w up i n 4 w e e k s  3 759 30  C a r d i a c S c a n : B o t h t w i n s h a v e s i t u s i n v e r s u s totalis  42044 Detailed V i e w o f Heart Not S e e n  Detailed V i e w o f Extremities Not S e e n  42065 18  1  18 18  1 1  18  1  42066 16  12-13  1  16  12-13  1  16  12-13  16  12-13  1 1  1  1 -1 1  Other Anomalies Cannot B e Exludend o r Evaluated  420S7  1 1  11 + 1 11 + 1  1  Uncomplicated Transabdominal C V S  1  Size Equals Dates  42248 19 + 3  18 + 3  4  2  755.38  19 + 3  18 + 3  4  2  759.89  Impression: 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 Oligohydramnios No Kidneys S e e n  No L Fibia S e e n  19 + 3  18 + 3  4  2  753.0  19 + 3  18 + 3  4  2  746.88  S m a l l P e r i c a r d i a l Effusion  19 + 3  18 + 3  4  2  755.31  No R Femus, Tibia, Fibia S e e n  19 + 3  18 + 3  4  2  753.8  B l a d d e r Not S e e n  1 1 1 1  1  228.1  Cystic Hygroma  1  778.0  Fetal Hydrops (Skin Edema)  1  511.9  42214 16 + 2 16 + 2 16 + 2 16 + 2  Pleural Effusions M a n y Details Cannot B e S e e n  1  42261 17 + 5  16 + 6  1  2  740.02  Anencephaly  2  741.99  Severe Myelomenigocele  2  756.08  Possible Proboscis  2  745.49  VSD  42268 31  28-29  31  28-29  31  28-29  31  28-29  1 1 1 1  2  745 63  A V C a n a l Defect  31  28-29  1  2  553.1  Omphalocele  31  28-29  1  2  742.48  Completely Disorganized Brain  16 + 3  15 + 3  1  2  511.9  R Pleural Effusions  16 + 3  15 + 3  1  1  742.00  Occipital Encephalocele  16 + 3  15 + 3  1  2  742.48  Herniation o f Cerebellum  16 + 3  15 + 3  1  2  553.1  Large Omphalocele  16 + 3  15 + 3  1  2  746.88  Levorotation o f the Heart  16 + 3  15 + 3  1  2  753.20  Mild Unilateral L Hydronephrosis  16 + 3  15 + 3  1  2  759.89  Possible Meckel Syndrome  16 + 3  15 + 3  1  2  16 + 3  15 + 3  1  2  742.39  M i l d D i l a t i o n o f L a t e r a l a n d 3rd V e n t r i c l e s  751.5  Echogenic Bowel  42289  Possible Aneuploidy  42294 14 + 5  1  14 + 5  1  14 + 5  1  1 1 1  511.9  Bilateral Pleural Effusions  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 t o L o w e r A b d o m e n  42336 18  16 + 2  1  1  764.9  IUGR  18  16 + 2  1  1  746.88  Small L Ventricle  18  16 + 2  1  1  746.88  Dilated R Atrium  18  16 + 2  1  1  742.26  Holoprosencephaly  18  16 + 2  1  1  756.08  Hypertelorism  15 + 5  1  1  11 + 1  1 1  1  42401 U / S t o d a y i s C o n s i s t e n 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  T r a n s a b d o m i n a l C V S - single a s p i r a t i o n for a d e q u a t e t i s s u e , f/h +ve after Ultrasound Confirms Menstral D a t e s  Ultrasound Findings  Appendix II EGA  EGA  Dates  U/S  Amniotic  19 + 2  1 8 + 1 wk  Outflow T r a c t s , S V C , I V C a p p e a r N o r m a l  19 + 2  1 8 + 1 wk  M o d e r a t e S i z e V S D with A V C a n a l Type Malformation  19 + 2  1 8 + 1 wk  F e t a l S i z e at 1 0 % c e n t i l e  23  20  M i l d to M o d . O l i g o h y d r a m n i o s  23  20  Symmetrical IUGR  Fkjid  Method Narrow of TA  Diagnosis:  Code  F e t a l S i z e L a r g e r t h a n E x p e c t e d by D a t e s  16 + 6  761,2  S e v e r e Oligohydramnios  16 + 6  753.00  Bilateral R e n a l A g e n e s i s  16 + 6  776.0 •  Possible Fetal Hydrops  18+1  754.73  Bilateral Club Feet  18+1  755 66  L o w e r L i m b Deformity  741.99  Probable Dysraphism - Lumbar Spine Vertebral Anomaly  22 + 2  756,08  Small BeO-Shaped H e a d  22 + 2  761.3  Mod.  Polyhydramnios  23  22 + 2  23  22 + 2  23  22 + 2  756.50  S u g g e s t O s t e o g e n e s i s Imperfecti  23  22 + 2  756.44  Suggest Campomelia  Abn Long Bone Development, Undermineralization + Blossing Suggest Thanatophoric  Dwarphism  13 + 3  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 Post. F o s s a  13 + 3  Bilateral Pleural Effusions  13 + 3  Large Cystic Hygroma  13 + 3  779 9  Intrauterine F e t a l D e m i s e , D u r i n g S c a n  13 + 3  761,2  Moderate Oligohydramnios  13 + 3  764 9  Growth Less Than Expected  16 + 2  741 01  Chiari Malformation  16*2  742 39  Mild Hydrocephalus  16 + 2  742 48  Choroid Plexus Cyst  16 + 2  741.99  Dysraphism Lumbar Spine A r e a  Large Cystic Hygroma Suggestive of Aneuploidy 17 + 3  15  Bilateral Pleural Effusion  17 + 3  15  Mild Oligohydramnios Hydropic Fetus  18 + 5  17 + 5  742.48  C h o r o i d P l e x u s i s I n h o m o g e n e o u s a n d E c h o p o o r C e n t r a l l y , but n o c y s t s  18 + 5  17 + 5  755 26  Absent R Radius  18 + 5  17 + 5  18 + 5  17 + 5  755,28  18 + 5  17 + 5  755 52  Flexed Wrist  18 + 5  17 + 5  755,50  S e p a r a t e P h a l a n g e s a r e not Identified  17*4  755 26  Bilateral Radial Hypo/Aplasla  17 + 4  755 51  Bilateral Radial Deviation of Hands  No Other Anomalies S e e n Today  17 + 4  Short, Irregular U l n a  Probable C H D  13 + 2  12 + 1  228 1  Very Extensive Cystic Hygroma  13 + 2  12* 1  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  13*2  12 + 1  764,9  S i z e i s l e s s t h a n e x p e c t e d for d a t e s  28  No Other Major Anomalies S e e n  28  761.2  Oligohydramnios  779.9  Intrauterine D e m i s e  756 71  A b d o m i n a l W a l l D e f e c t C o n s i s t e n t with G a s t r o s c h i s i s  756 08  Overlapping Sutures  754.03  Dolicocephaly  10+1  14 + 2  Normal Placenta  10+1  14 + 2  Normal Growth  10+1  14 + 2  Mod. - S e v e r e Oligohydramnios  16-1  778.0  16-1  511.9  Bilateral Pleural Effusions  16-1  751.5  Bowel is Echogenic  16-1  753.0  16-  Ascites are Noted  K i d n e y s a r e N o t C l e a r l y Identified 4 C h a m b e r V i e w o f H e a r t Is Not W e l l S e e n  16-  753.8  B l a d d e r C a n n o t B e Identified  16-1  762.28  P l a c e n t a Is I n h o m o g e n e o u s & L a r g e  16  228.1  Extreme C y s t i c Hygroma Arising F r o m the N e c k  762,28  Thick Placenta  137  Appendix II  Ultrasound Findings  Code  EGA  EGA  No:  Dates  U/S  Amniotic  Method NaiTow  Diagnosis:  FKjid  of TA  Code:  16 + 5  2  1  758.69  Likely Turner S y n d r o m e  16 + 5  2  1  778.5  Generalized Subcutaneous Edema  16 + 5  2  1  228.1  Bilateral C y s t i c Hygroma  2  42642 19*2  18  1  19 + 2  18  1  19*2  18  1  19 + 2  18  1  2  19*2  18  1  2  19 + 2  18  1  2  14  1  2  14  1  2  14  1  No L Ventricle 746 88  Large R Atrium  746.88  Small L Atrium Single visible Ventricle « R V O T  746.7  L Ventricle Hypoplasia Ductus going to small arch  42671 N o other anomalies s e e n today 740.01  Acrania  756.14  Abnormal Widening o f Cervical Spine  42634 16+ 1  14 • 1  3  1  761.2  Moderate Oligohydramnios  16+1  14 + 1  3  1  762.28  Suggestive Partial Molar Change in Placenta  16 + 1  14 + 1  3  1  553 1  Small Omphalocele  16+1  14+ 1  3  1  751 5  Highly E c h o g e n i c S m a l l B o w e l  16+1  14 + 1  3  1  758 58  S u s p e c t Triploidy  16* 1  14 + 1  3  1  762 28  Suspect Partial Mole (Placenta)  16+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  16  1  1  762 8  16  1  1  15 + 1  1  1  742.23  C e r e b e l l u m i s e i t h e r a b s e n t o r h y p o p l a s t i c - tentorium (sic) i s not t e n s e from o b s t . at this s t a g e  15 + 1  1  1  228 1  C y s t i c H y g r o m a Identified w i t h E d e m a t o M i d T h r o a x  15 + 1  1  1  15+ 1  1  1  758.69  Imp: P r o b a b l y T u r n e r S y n d r o m e  15*  1  1  742.46  Posterior F o s s a Cyst -  1  1  742.38  P o s s i b l e M i l d D i l a t i o n o f 3rd V e n t r i c l e  Asymmetric IUGR  42691 L o o s e Amniotic Membrane Cranium Present  42304  1  15+1  U/S Consistent With Menstral Dates  42310 19*2  1 9 + 1/2 w k  1  1  764.9  19*2  1 9 + 1/2 w k  1  1  754.9 7  F e m u r At 1 0 % c e n t i l e - O t h e r L o n g B o n e s N o r m a l  19 + 2  1 9 + 1/2 w k  1  1  19*2  19+  1/2wk  1  1  756.14  W i d e n i n g of the C e r v i c a l Spine  19*2  1 9 + 1/2 w k  1  1  7507  S t o m a c h i s Not W e l l S e e n  19*2  1 9 + 1/2 w k  1  1  753 8  B l a d d e r Not S e e n  19 + 2  1 9 + 1/2 w k  1  1  753.20  B i l a t e r a l F e t a l H y d r o n e p h r o s i s ( 4 & 5 mm)  19 + 2  1 9 + 1/2 w k  1  1  742.39  Lateral Ventricles a r e Prominent  19 + 2  19 + 1 / 2 w k  1  1  753.16  Both Kidneys are Echogenic - Probably Dysplastic  19 + 2  1 9 + 1/2 w k  1  1  75661  ? Diaphragmatic Hernia  19 + 2  1 9 + 1/2 w k  1  1  19*2  1 9 + 1/2 w k  1  1  19 + 2  1 9 + 1/2 w k  1  1  744 88  N u c h a l E d e m a (6 mm)  19*2  19 + 1/2 w k  1  1  746 80  T h e H e a r t i s o n t h e Right S i d e o f t h e C h e s t  19 + 2  1 9 + 1/2 w k  1  1  756.6  L a n d A n t e r i o r A s p e c t o f the D i a p h r a g m i s Not W e l l Identified  19*2  1 9 + 1/2 w k  1  1  746.7  ? Hypoplastic L Heart  19 + 2  1 9 + 1/2 w k  1  1  742 48  Dangling C h o r o i d Plexus  1  1  Imp: C h r o m o s o m a l A n o m a l y  4 C h a m b e r V i e w o f H e a r t Not O b t a i n e d Midline Structures, Cerebellum, a n d H e a d S h a p e A p p e a r Normal  42320 11  Ultrasound Consistent with Menstral Dates  42326 23*4  16-  17wk  2  1  761 2  23*4  16- 17wk  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 o r N o n c h r o m o s o m a l M a j o r A n o m a l y  23 + 4  1 6 - 17 w k  2  1  764 9  Femur Growth Rate Declining  23 + 4  16-17  wk  2  1  742.23  C e r e b e l l a r A r e a E m p t y ? d e s t r o y e d o r d i s p l a c e d u n a b l e to s e e  23 + 4  16- 17wk  2  1  754 82  T i n y T h o r a x Full o f H e a r t  23 + 4  16- 17wk  2  1  23 + 4  16- 17wk  1  764.9  Abnormal Growth Rate Also Declining  23 + 4  16- 17wk  2  1  756 08  Rate of H e a d Growth is V . Abnormal - now way « t h a n  23*4  16- 17wk  2  1  761.2  Oligohydramnios  16 + 2  1  1  756 08  L e m o n S h a p e d Skull  16 + 2  1  1  742 39  Mild Hydrocephalus  16 + 2  1  1  16 + 2  1  1  741.01  Banana Cerebellum due to Arnold Chiari  16 + 2  1  1  741.01  Sacral Meningomyelocele Suspected  1  4  744.88  N u c h a l T r a n s l u c e n c y form O c c i p u t to L o w e r Trunk  21  1  2  742.00  21  1  2  21  1  2  756 1  Difficutt to A s s e s s t h e R e s t o f t h e S p i n e  21  1  2  747.5  Single Umbilical Artery  5  2  553 1  Twin B - Omphalocele  5  2  Twins  5  2  Both Twins Normal Cardiac  Difficult t o s e e d u e t o o l i g o h y d r a m n i o s  Difficult to s e e d u e to m a t e r n a l a b d o m i n a l w a l l  42343  N o o t h e r F e t a l A n o m a l i e s Identified T o d a y  42343 11  10 + 2  42362 Large Occipital Encephalocele No Other Obvious Anomalies  42334  1st%centile  Ultrasound Findings  Appendix II EGA  EGA  Dates  U/S  Amniobc Fluid  Method Narrow of TA  139  Diagnosis:  Code: Twin A - Normal Anatomy  F e t a t S i z e C o r r e s p o n d s to D a t e s  17 + 4  759.89  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 t y p e III (bilateral)  17 + 4  756.17  T h e S a c r u m a p p e a r s s h o r t e r a l t h o u g h all o f the o s s i f i c a t i o n c e n t e r s c a n b e i d e n t i f i e d .  17 + 4  The Bowel is Echogenic  17 + 4  E c h o p o o r s t r u c t u r e i s p r e s e n t i n the p e l v i s , e i t h e r a d i s t e n d e d b l a d d e r or d i s t e n d e d  17 + 4  Imp: M C A m a y b e d u e to a n e u p l o i d y  17 + 4  Both Feet are S e e n in a Club P o s i t i o n  17 + 4  Heart viens are normal  17 + 4  retrosigmoid  2 Vessel Cord  17 + 4  764.9  17 + 4  754.03  Doltcocephalic H e a d S h a p e  17 + 4  761.2  Mod.  17 + 4  778.0  Small amount of A s c i t e s  17 + 4  789.3  Abdomen is a b o v e 90th %centile  17 + 4  750.7  S t o m a c h i s not c l e a r l y i d e n t i f i e d  17 + 4  753.00  There are no normal appearing Kidneys  17 + 4  753.16  A s t r u c t u r e i s p r e s e n t o n the left s i d e that m a y r e p r e s e n t a d y s p l a s t i c k i d n e y or b o w e l  17 + 4  744.88  N u c h a l F o l d M e a s u r e s 7.5 m m  17 + 4  L o w e r L i m b s s h o w a femur at the  10%centile  Oligohydramnios  The diaphragmatic curve is inverted  17 + 4  L u n g s a p p e a r o f i n c r e a s e d v o l u m e but n o r m a l e c h o g e n i c i t y  17 + 4  Thorax Size is above 90th %centile  17 + 4  Other parts of S p i n e A p p e a r Normal  24 + 6  761.2  24 + 6  753.8  F e t a l B l a d d e r Not S e e n  24 + 6  753 38  Fetal Kidney are Very Large  24 + 6  753.0  F e t a l K i d n e y s a r e Highly E c h o g e n i c  24 + 6  753.11  I m p r e s s i o n : Infantile P o l y c y s t i c K i d n e y D i s e a s e  24 + 6  762.6  Three V e s s e l Cord Noted  24 + 6  S e v e r e Oligohydramnios  No Other Anomalies S e e n  24 + 6  750.7  17 + 2  740.01  Suggestive of Acrania  17 + 2  740.01  Cranium is Absent  17 + 2  742.48  Brain Structure Underdeveloped  17 + 2  756.14  C e r v i c a l S p i n e A p p e a r s Larger ( A s s o c i a t e d with Cranial Nondevelopment)  17 + 2  740.02  Suggestive of Anencephaly  Fetal S t o m a c h Not S e e n  S i z e = D a t e s by U / S  Suggest Chromosome Analysis 32 + 4  No Other Anomalies S e e n  32 + 4  D o e s N o t L o o k L i k e D u o d e n a l A t r e s i a but P r o b a b l y i n D u o d e n a l L e n g t h or H i g h J e j u n u m  32 + 4  Polyhydramnios Indicates High Fetal G l Tract Obstruction  32 + 4  D i s t e n d e d S t o m a c h and Additional Fluid Filled L o o p s  32 + 4  F e t a 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+1/2  Small Bladder  18+1/2  Small Pericardial Effusions  18+1/2  753.16  Microcystlc Dysplastic Kidneys  18+1/2  753.0  Hyperechogenic Kidney  Growth and Anatomy Appear Normal  Genetic Amniocentesis  15  753.00  Echogenic Kidneys (Dysplastic)  15  761.2  Mild Oligohydramnios  15  753.88  Distended Fetal Bladder  21+4  15  1  2  511.9  Bilateral Pleural Effusions  21+4  15  1  2  778.0  Ascites  21+4  15  1  2  742 48  Banana Cerebellum  21+4  15  1  2  751 5  Echogenic Bowel, Grade 1  21+4  15  1  2  753.01  Echogenic L Kidney  21+4  15  1  2  778.0  G r o s s Fetal Hydrops  21  15  1  2  754,9  IUGR  15  1  2  228 1  Severe Cystic Hygroma  16 + 5  754.78  Abnormally Positioned Feet  16 + 5  742.42  Bilateral C h o r o i d Plexus C y s t s  +4  21+4  16 + 5  Omphalocele  16 + 5  746.88  Bradycardia  16 + 5  750.78  Stomach Agenesis  TwinA - Omphalocele  endix II  Ultrasound Findings  EGA  EGA  Amniotic  Dates  U/S  Fluid  Method Narrow of TA  Diagnosis:  Coda: Twins 754.20  17  TwinA - Thoracolumbar Scoliosis  746.08  T w i n A - R Deviation of the Heart  759.89  TwinA - Possible Body Wall Complex  779.9  T w i n B - Intrauterine D e m i s e  754.82  Small Bell S h a p e d  17 + 6  749.29  Cleft P a l a t e  17 + 6  749.29  Cleft Lip  17 + 6  756.44  Imp: A p p e a r s T o B e A C a s e o f T h a n a t o p h o r i c D w a r f i s m  17 + 6  742.21  ? Absent Corpus Callosum  17 + 6  742.39  17 + 6  755.88  L i m b S h o r t e n i n g - H u m e r u s , U l n a , T i b i a , F e m u r < 5 % c e n t i l e (15 w k s i z e )  17 + 6  756 49  M C A - Skeletal Dysplasia  17 + 6  Chest  Ventriculomegaly  N o Fractures, Normally Calcified B o n e s  17 + 6  756.08  C l o v e r i e a f S h a p e d Skull  740.02  Anencephaly  Size and Anatomy Appear Normal  17 + 2  751 5  Echogenic Bowel  17 + 2  742.48  Inhomogeneous Choroid Plexus Appearance  Fetal Size Corresponds With Dates  741.01  Meningomyelocele  15  741.01  A m o l d - C h i a r i T y p e II M a l f o r m a t i o n  15  742.52  Possible Diastematomyelia  741.01  Prominent Lateral Ventricle  553 1  • Omphalocele  228 i  M o d . C y s t i c H y g r o m a , w i t h e d e m a e x t e n d i n g to the l o w e r t h o r a x  746.80  Dextrocardia  745.3  Possible Single Ventricle  753.00  Possible Renal Agenesis  22 + 2  756.49  Imp: Skel Dysp c Polydact. ? Cardiac Anom. Mecon. Periton.. Chondroectoderm Dysp, Short Rio Polydact Synd, Asphyx Thoracic Dysp  22 + 2  755.88  All L o n g B o n e s A r e M o d . t o S e v e r e l y S h o r t e n e d (well b e l o w 5 % c e n t i l e ) S h a p e & D e n s i t y A p p e a r N o r m a l  22 + 2  754.82  T h e Thorax is Small (2-5%centile)  22 + 2  755.09  Both H a n d s H a v e 6 Digits  22 + 2  755 60  F e e t a r e n o r m a l in s i z e , but digits a r e not w e l l s e e n  22 + 2  C o u l d N o t S e e the Interatrial S e p t u m o r U p p e r Interventriculare S e p t u m W e l l  22 + 2  751.5  15  Highly E c h o g e n i c B o w e l w i t h s m a l l t o m o d e r a t e a s c i t e s p r e s e n t  Nuchal Edema  15  Cystic Hygroma 756.71  Abdominal Wall Defect  759.42  C o n j o i n e d T h o r a c o p a g u s (single h e a r t ) T w i n s  15 + 5  750.7  Possible Dilated Stomach  15 + 5  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  15 + 5  789 9  C y s t i c A r e a eith e c h o g e n i c wall in a b d o m e n  15  19 + 4  Possibly Poland Syndrome  19 + 4  Small Anterior M y o m a  19 + 4  755 51  Rudimentary L H a n d  19 + 4  755.53  Hypoplastic L Forearm  Intrauterine F e t a l D e m i s e  14-15  Nuchal Edema  17  14-15  764.9  IUGR  17  14-15  779.9  Intrauterine F e t a l D e m i s e  18 + 3  753.01  Absent L Kidney  18 + 3  753.16  R Cystic Kidney  18 + 3  747.5  Single Umbilical Artery  18 + 3  753.88  Small Fetal Bladder  Normal Gestation  17 + 2  742.48  17 + 2  74198  Possible Sacral Dysraphism  17 + 2  742 39  Dilated Lateral and 3rd Ventricles  P o s s i b l e Arnold Chiari Malformation  Cystic Hygroma'  U l t r a s o u n d Findings  Appendix II EGA  EGA  Amniotic  Method Narrow  Dates  U/S  Fluid  o(TA Code: 744.88  Diagnosis:  Nuchal Edema  Normal Gestation  21+2  742.26  Alobar  21+2  749.21  B i l a t e r a l Cleft L i p  21+2  749.21  B i l a t e r a l Cleft P a l a t e  21+2  747.5  Single Umbilical Artery  1  2  Holoprosencephaly  F e t a l S i z e C o r r e s p o n d s to D a t e s  744.88  i  Small Bilateral Nuchal E d e m a  Normal Gestation  228.1  M a s s i v e Cystic Hygroma  778.0  S e v e r e Fetal Hydrops  18+ 1  761.2  S e v e r e Oligohydramnios  18+1  746.7  L Cardiac Ventricle Hypoplasia  23 + 5  762.8  A r e a s of S e p e r a t e d Chorion  23 + 5  753.8  Bladder Normal  764 9  IUGR  23 + 5  753.01  L K i d n e y C a n n o t B e P o s i t i v e l y Identified  23 + 5  751.5  G r a d e II E c h o g e n i c B o w e l  753.2  Mild Bilateral Pefviectasis  18 + 3  746.88  Pericardial Effusions  18 + 3  511.9  Pleural Effusions  18 + 3  755.38  Hypoplastic Femur  18 + 3  228.1  Cystic Hygroma  18 + 3  Femur Foot Ratio Abnormality  742.42  15 + 2  Small Bilateral C h o r o i d Plexus C y s t s  Marked Skin Edema  15 + 2  Pleural Effusions  15 + 2  778.0  15 + 2  747.5  Possible 2 Vessel Cord  15 + 2  778.0  Hydropic Fetus  15  Ascites  778.0  Head Ascites  778.0  Throax Ascites  511.9  Echogenic Bowel  551.9  R Pleural Effusion  778.0  Generalized Hydropic Fetus  15  Abdomen Ascites  16 + 5  741.01  16 + 5  ' 741,01  16 + 5  754,73  Bilateral Club Feet  16 + 5  749.21  S u s p e c t e d B i l a t e r a l Cleft L i p  16 + 5  749.21  S u s p e c t e d B i l a t e r a l Cleft P a l a t e  17 + 5  753.16  Multicystic Echogenic Kidneys  17 + 5  761.2  S e v e r e Oligohydramnios  17 + 5  753.38  Bilateral R e n a l Enlargement  A r n o l d - C h i a r i T y p e II M a l f o r m a t i o n Small Cystic Meningomyelocele  12 + 5  S i n g l e L i v e F e t u s S i z e A p p r o p r i a t e for D a t e s  12 + 5  N u c h a l m e m b . s e e n w h i c h e x t e n d s from the o c c i p u t to the l o w e r t h o r a c i c a r e a o v e r the d o r s u m o f the f e t u s  12 + 5  It C o n t a i n s Fluid & E x t e n d s at L e a s t 2 m m from the D o r s u m o f the F e t a l N e c k  12 + 5  It R e p r e s e n t s a M a n i f e s t a t i o n o f t h e J u g u l a r L y m p h a t i c O b s t r u c t i o n S e q u e n c e  15  Shared Bowel  15  Abdominal Cyst  15  Club Feet  15  Multiple A s c i t e s i n U m b i l i c a l C o r d  15  Shared Liver  15  Conjoined Twins (Omphalogus)  20  779 9  Fetal Demise  20  778 5  Soft T i s s u e  19 + 5  759.89  Brachic-Oto-Renal Syndrome  19 + 5  753.00  F e t a l K i d n e y s c a n not b e Identified  19 + 5  753.6  F e t a l B l a d d e r C o u l d Not B e Identified  22  753 00  Possible Renal Aplasia  22  753.16  Possible Multicystic Dysplastic Kidney  Edema  141  Appendix II  U l t r a s o u n d Findings  EGA  EGA  Amniotic  Dates  U/S  Fluid  12  Method Narrow of TA  Diagnosis:  Code: 761.2  S e v e r e Oligohydramnios  754.03  Dolichocephaly  228.1  Cystic Hygroma  778 o  Fetal Hydrops  12  7799 .  Intrauterine F e t a l D e m i s e  19 + 6  754.3  Bilateral Club Feet  19 + 6  750 7/753 S t o m a c h a n d B l a d d e r W e r e N o t S e e n  19 + 6  742.39  Ventriculomegaly (Lateral Ventricles Only)  19 + 6  553.1  Small Omphalocele  19 + 6  755 50  19 + 6  N o Definate P l o y d a c t y l y although 5th F i n g e 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  19 + 6  753.16  B o t h K i d n e y s a r e P r e s e n t & A r e E n l a r g e d a n d 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 L a r g e r C y s t s  19 + 6  744 88  Nuchal Thickening - 7 mm  Moderate Ascites Pericardial Effusion Moderate Cardiomegaly 18 +  N o structural c a r d i a c m a t f n s a r e p r e s e n t  18 +  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 includes anemia (a-thalassemia), infection or aneuploidy G e n e r a l i z e d H y d r o p s is P r e s e n t with . . . Fetal S i z e A g r e e s with Dates  F e t a l S i z e C o r r e s p o n d s to D a t e s  15+1/2  Large Cystic Hygroma  15+1/2  Generalized Hydrops  15+1/2  A b n o r m a l Heart  Posterior Wall Heterogenous M a s s , (Myoma)  Normal Gestation  753.69  Urethral Dilatation  753.22  Megacystis  753.20  Bilateral Hydronephrosis  22  754.62  D e c r e a s e d Truncal Circumference  22  753.88  P o s s i b l e D i v e r t i c u l u m of B l a d d e r  20 + 2  741.01  Posterior Lumbar Meningomyelocele  20 + 2  74t 01  Arnold Chlari Malformation  20 + 2  74101  Ventriculomegaly  Normal Gestation  Normal Gestation  17 + 6  Mild Lateral Ventricular Dilation  17 + 6  Cystic Hygroma  17 + 6  Generalized Fetal Hydrops  17 + 6  Bilateral Pleural Effusions  17 + 6  Abdominal Ascites  759.89  Caudal Regression Syndrome Variant  755.38  Truncated Lower Limbs  755 48  Truncated L Upper Limb  17 + 3  753.00  Abnormal Renal Structures  17 + 3  756.71  Small Gastroschisis  17 + 3  755.51  Hand Clubbing  17 + 3  756.18  S p i n e E n d s Blindly  17 + 3  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  15  Genetic Amniocentesis  16 + 2  15  U l t r a s o u n d S i z e C o m p a t i b l e with P r e v i o u s U l t r a s o u n d  17 + 4  Short Femur Length  17 + 4  Cystic Hygroma  17 + 4  Skin Edema  17 + 4  Pleural Effusion  17 + 4  P e r s i s t e n t F l e x i o n of L e g s  17 + 5  742 48  17 + 5  742 08  L a r g e E n c e p h a l o c e l e at the v e r t e x with l e m o n s h a p e d " frontal b o n e s  17 + 5  750.28  W i d e m o u t h w i t h l a t e r a l e x t e n s i o n of the c o r n e r s o f t h e m o u t h  743.67  S h a l l o w orbits  17 + 5 17 + 5 17 + 5  Multiple B i l a t e r a l C h o r o i d P l e x u s C y s t s (largest 11mm)  E x t r e m i t i e s not w e l l s e e n , 4 digits s e e n o n R h a n d , L h a n d not w e l l s e e n  C e r v i c a l Structure S e e n , cervix long and c l o s e d  142  Ultrasound Findings  Appendix II Code  EGA  EGA  Amniotic  No:  Dates  U/S  Method Narrow  Diagnosis:  Fluid  of TA  17 + 5  1  1  Code;  17 + 5  1  1  F e t a l S i z e i s c o n s i s t e n t with m e n s t r a l d a t e s  17 + 5  1  1  N o r m a l A m n i o t i c Fluid V o l u m e  17 + 5  1  1  17 + 5  1  1  17 + 5  1  1  749.29  ? Cleft lip +/- p a l a t e  17 + 5  1  1  742.23  A b s e n c e o f t h e inferior v e r m u s o f t h e c e r e b e l l u m with l a r g e 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 nasal structures  17 + 5  1  1  17 + 5  1  1  17 + 5  1  1  Facial Anomalies  17 + 5  1  1  Male Genitalia  17 + 5  1  1  17 + 5  1  1  15 + 1  1  1  Amniocentesis  15 + 1  1  1  S i z e A p p r o p r i a t e for D a t i n g  10+ 1  1  1  F e t a l S i z e C o r r e s p o n d s to D a t e s  18  1  2  18  1  2  15 + 6  1  2  No Polydactyly  755.07  Cranial Anomalies No renal anomalies s e e n  Imp: C r a n i o f a c i a l A n o m ' s , c o u l d b e part o f f a c i o - a u r i c u l c - v e r t e b r a l s p e c t ' m , i n c r . risk o f a n e u p l o i d y 756.02  Marked Hypertelorism  No omphalocele s e e n 755.61  Possible Rockerbottom Feet  44413 Successful  44427  44452 C o n g e n i t a l Heart A b n o r m a l i t i e s 745.63  A - V S e p t a l Defect with a V S D & A S D Component  44474 Amniocentesis, Single Tap  44470 18 + 3  16 + 1  3  1  753.88  Small Bladder  18 + 3  16 + 1  3  1  753.00  Dysplastic Renal Tissue  18 + 3  16 + 1  3  1  753.01  R K i d n e y N o t Identified  18 + 3  16 + 1  3  1  753,20  S e v e r e L Hydronephrosis  18 + 3  16 + 1  3  1  761.2  Oligohydramnios,  18 + 3  16 + 1  3  1  746,88  S m a l l P e r i c a r d i a l Effusion  18 + 3  16+ 1  3  1  228.1  Cystic Hygroma  18 + 3  16 + 1  3  1  778.5  Diffuse S k i n E d e m a  Abnormal Cerebellum  Moderate  44486 19 + 5  1  1  742,23  19 + 5  1  1  742.28  Absent Vermis  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 M i d l i n e  19 + 5  1  1  19 + 5  1  1  742.39  Ventriculomegaly  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  4th V e n t r i c l e C o u l d N o t B e S e e n  444SS 20  18 + 4  1  1  764,9  Fetal Growth <5%centile, IUGR  20  18 + 4  1  1  228.1  Cystic Hygroma  20  18 + 4  1  1  778,5  Diffuse S k i n E d e m a  20  18 + 4  1  1  778.5  Ascites  20  18 + 4  1  1  511.9  Bilateral Pleural Effusions  20  18 + 4  1  1  746.7  L Heart H y p o p l a s i a  15  1  1  18 + 3  1  1  18 + 3  1  1  18 + 3  1  1  18 + 3  1  1  18 + 3  1  1  741.01  S p i n a l d y s r a p h i s m from L 2 t o S 2 L e v e l s (approx), defect a p p e a r s o p e n p o s t e r i o r l y n o c y s t i c s t r u c t u r e s e e n  742.02  Anencephaly  44489 Uneventful Single T a p Amnio  44495 741.01  Irvfrac renal/Cranial Findings Consist, c Chiari II Mali. Concave Frontal Bones. Cerebelum Deformity & Obbterated Cistema Magna  742.39  N o Ventricular Dilation T o d a y  L e g . M o v e m e n t i s P r e s e n t a n d t h e F e e t A r e Not C l u b b e d  F e t a l S i z e C o n s i s t e n t with M e n s t r a l D a t e s  44499 21  17 + 1  1  1  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 1 7 +/-1 w k  44606 24 + 6  1  2  24 + 6  1  2  749,1  N o Cleft L i p S e e n Trunk a n d F e m u r G r o w t h a r e a p p r o p r i a t e for m e n s t r a l d a t e s  24 + 6  1  2  742.1  H e a d is approx. 2 2 w k s size  24 + 6  1  2  742.26  Alobar Holoprosencephaly - s o m e division of choroid plexus posteriorly, Ball T y p e  24 + 6  1  2  756.08  Facial Anomaly, Hypotelorism  24 + 6  1  2  743,63  Prominent Eyelids  24 + 6  1  2  744.91  Hypoplastic Midface  24 + 6  1  2  741,01  A b n o r m a l P o s t e r i o r F o s s a - ' b a n a n a c e r e b e l l u m " s u g g e s t i v e of A m o l d - C h i a r i M a l f o r m a t i o n  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 although soft t i s s u e s not w e l l s e e n d u e to b r e e c h p o s i t i o n  24 + 6  1  2  758.10  Imp: A l o b a r H o l o p r o s e n c e p h a l y , 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  24 + 6  1  2  758.10  Imp: H i g h R i s k o f C h r o m o s o m a l A n o m a l y (trisomy 1 3 )  24 + 6  1  2  748.18  Single Nostril  11+3  1  1  744,88  Fetal Nuchal Translucency Thickening  44622  44635 13  12  t  4  764,9  IUGR  13  12  1  4  778.5  Diffuse S u b c u t a n e o u s E d e m a  1  2  756.61  Left S i d e d D i a p h r a g m a t i c H e m i a , S t o m a c h & B o w e l i n T h o r a x , H e a r t D i s p l a c e d into H e m i t h o r a x  44638 20 + 3 44642  Ultrasound Findings  Appendix II EGA  EGA  Dates  U/S  Amniotic Fhjjd  Method Narrow of TA  Diagnosis:  Code: 744.ee  L a r g e Soft T i s s u e M a s s A g a i n s t N e c k  779 9  Intrauterine D e m i s e  761.2  Moderate Oligohydramnios  29 • 1  778 o  Fetal Hydrops  29 • 1  7780  Ascites  29*1  746 88  Pericardial Effusions  29*1  5119  Bilateral Pleural Effusions  19*2  K i d n e y s Difficult t o S e e  19 + 2  Nuchal Edema  19 * 2  S e v e r e Oligohydramnios  19 + 2  Bladder Not S e e n  19 + 2  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  19 + 2  746 88  Small Percardial Effusion  19 + 2  750.7  Small Stomach  19 + 2  754.20  Mild Lumbar S c o l i o s i s  19 + 2  754.73  L Clubbed Foot  19 + 2  Possible  19 + 2  Hemivertebrae  S u g g e s t i v e of V A C T E R Y L  18 + 4  No Other Fetal Anomalies S e e n Today  18 + 4  777 6  Bright e c h o g e n i c f o c i s e e n o u t s i d e s t o m a c h & s o m e s m a l l b o w e l l o o p s s u g g e s t m e c o n . peritonitis  18 + 4  756,71  And wall defect seen to nghtside of umbikcal cord inserfn, with bowel loops in the amn fluid consist with gastroschisis  18 + 4  F e t a l 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 D a t e s  19 + 5  742 42  Bilateral C h o r o i d Plexus C y s t s  19 + 5  746 88  L Ventricle Abnormality  19 + 5  746,6  Mitral V a l v e Abnormality  19 + 5  753 o  R e n a l Defect  756.08  Lemon Sign  19 + 3  741,00  Ventriculomegaly  19 + 3  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  Banana Sign  13 + 2  11+3  764.9  Mild I U G R , H e a d is smaller than expected ( 1 1 + 3  13 + 2  11+3  742.26  Alobar Holoprosencephaly  13 + 2  11+3  228 1  Large Cystic Hygroma  742.39  Isolated Ventriculomegaly  742.48  Dangling Choroid Plexus  Clenched Hands  wks)  17 + 4  755.51  17 + 4  74 2 4 2  Multiple C h o r o i d P l e x u s C y s t s  17 + 4  764 9  IUGR, <10%centile  8 + 5  762.8  Suggestive of Amnion Rupture S e q u e n c e  8 + 5  756 17  S a c r a l Spine Not S e e n  21  8 + 5  744.ee  Nuchal Edema  21  8 + 5  553 1  Abdominal W a d Defect Containing A s c i t e s , Liver, Stomach, Gallbladder and B o w e l  21  8 + 5  553 i  Small Omphalocele  21  8 + 5  754 20  Lumbar Scoliosis  21  8 + 5  764 9  IUGR  21  8 + 5  747.5  Single Umbilical Artery  8 + 5  754.73  Club Feet  8 + 5  762.60  Short UmbiBcal C o r d  21  8 + 5  759 89  Suggestive Limb Body W a l l Defect  21  8 + 5  756 78  S u g g e s t i v e of C l o a c a l Bladder Extrophy  21  8 + 5  754 B2  T h o r a x not w e l l s e e n  21  8 + 5  759 89  Suggestive Body Stalk Anomaly  16  740.01/02 F e t a l C a r v a r i u m i s A b s e n t ( A n e n c e p h a l y / A c r a n i a )  16  756 51  17 + 4  P o s s i b l e D i a p h r a g m a t i c H e m i a o r o t h e r A b n . S t r u c t u r e in the L C h e s t  2  511.9  Pleural Effusions  17 + 4  1  2  747.5  2 Vessel Cord  17 + 4  1  2  778.0  Ascites  17 + 4  1  2  746.88  R S i d e d Dominance of Heart  17 + 4  i  2  778.0  17 + 4  '  2  228.1  753.0  25 + 4  20  22  4  2  25 + 4  20  22  4  2  Fetal Hydrops Cystic Hygroma  Difficult t o v i s u a l i z e K i d n e y s No Other O b v i o u s Deformation  25 + 4  20  22  4  2  755,68  P o s i t i o n a l A b n o r m a l i t y o f Left L e g  25 + 4  20  22  4  2  753.01  ? S m a l l Left K i d n e y S e e n  25 + 4  20  22  4  2  761.2  S e v e r e O l i g o h y d r a m n i o s prior to a m n i o infusion  25 + 4  20  22  4  2  764.9  Asymmetric IUGR  25 + 4  20  22  4  2  764,9  All P a r a m e t e r s «  25 + 4  20  22  4  2  764,9  F e t a l h e a d & femur m e a s u r e at the m e a n for 2 2 w k s w h i l e t h e A b d .  1 0 % c e n t t , e for G e s t . A g e  144  Appendix II  Ultrasound Findings  Code  EGA  EGA  Amniotic  Method Narrow  No:  Dates  U/S  Fluid  ol TA  Code:  25 + 4  20-22  4  2  747.5  14 + 5  1  2  14 + 5  1  2  740.02  17 + 2  1  2  742.39  17 + 2  1  2  17 + 2  1  2  745.4  Interventricular S e p t u m N o t S e e n  17 + 2  1  2  228.1  Cystic Hygroma  17 + 2  1  2  778.0  Fetal Hydrops  1  2  746.88  Pericardial Effusion  1  2  747.5  2 Vessel Cord  Diagnosis:  2 Vessel Cord  44859 A m n i o c e n t e s i s for G e n e t i c C o n f i r m a t i o n Anencephaly  44S61  17 + 2 17 + 2  Bilateral M o d e r a t e Ventriculomegaly Major Cardiac Anomaly  44670 19  17-18+1 w k  1  2  758.69  Imp: L e t h a l A n o m a l y ( P r o b a b l y T u r n e r s S y n d . )  19  17-18+1 w k  1  2  778 0  Fetal Hydrops  19  17-18+1 w k  1  2  778.5  Major Skin E d e m a  19  17-18+1 w k  1  2  746 88  L V e n t r i c l e o f F e t a l H e a r t A p p e a r s Slightly S m a l l e r  19  17-18+1 w k  1  2  511 9  Pleural Effusions  19  17-18+1 w k  1  2  228.1  Cystic Hygroma  18 + 6  2  1  749.29  P o s s i b l e Cleft P a l a t e  18 + 6  2  1  754.73  Bilateral Club Feet  18 + 6  2  1  755.68  Abnormal L e g Position  18 + 6  2  1  756.61  Possible Diaphragm Defect  18 + 6  2  1  756.08  H e a d Not W e l l S e e n  44SB7  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  Possible V S D  18 + 6  2  1  745.59  Possible A S D  18 + 6  2  1  746.6  Dysplastic Mitral V a l v e  18 + 6  2  1  747 5  Single Umbilical Artery  18 + 6  2  1  749.29  P o s s i b l e Cleft Lip  18 + 6  2  1  18 + 6  2  1  761.2  Mild Oligohydramnios  764.9  Asymmetrical IUGR  F e t a l G r o w t h d o e s not c o r r e s p o n d to d a t e s  44893 20 + 3  18 + 3  3  2  20 + 3  18 + 3  3  2  20 + 3  18 + 3  3  2  10  1  1  24 + 6  1  1  742.39  Bilateral Ventriculomegaly  24 + 6  1  1  756 79  Abdominal W a l l Defect with 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  24 + 6  1  1  754.20  Extreme Scoliosis  24 + 6  1  1  759 89  Suggestive o f Limb Body W a l l Defect  24 + 6  1  1  742.23  Absent Cerebellum  24 + 6  1  1  742 39  Enlarged 3rd Ventricle  Hydrops  No Fetal Anomalies S e e n 764.9  Moderate IUGR  45003 Fetal S i z e C o r r e s p o n d s with Dates  45011  45028 12 + 6  11+4  1  1  778.0  12 + 6  11+4  1  1  228.1  12 + 6  11+4  1  1  Suggestive of Aneuploidy  12 + 6  11+4  1  1  E G A Not C o n s i s t e n t W i t h D a t e s  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  45035 17 + 2  1  17 + 2  1  740 02  17 + 2  1  15 + 6  1  1  2  Carvarium i s Absent  740.1  Craniorachischisis  740.02  Anencephaly  45054 Fetal Size Corresponds With D a t e s  45059 18 + 5  18 + 1 w k  4  1  761 2  S e v e r e Oligohydramnios  18 + 5  18 + 1 w k  4  1  754 9  F e t a l S i z e at 1 0 % c e n t i l e  18 + 5  18 + 1 w k  4  1  754.73  Bilateral Club Feet  18 + 5  18 + 1 w k  4  1  761.1  O n g o i n g Rupture o f 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 Wali o f Throax  15 + 3  1  1  741.01  NTD, Lower Thoracic  15 + 3  1  1  756 18  Suggestive  15 + 3  1  1  741.01  C h i a r i II M a l f o r m a t i o n  15 + 3  1  1  756.12  Kyphoscoliosis  13 + 2  1  1  744.88  Nuchal Translucency  17 + 6  1  1  740.0  F e t a l C r a n i u m i s A b s e n t but B r a i n i s P r e s e n t  17 + 6  1  1  750.7  S t o m a c h Not S e e n  17 + 3  3  2  751.5  Increased Echogenic Bowel  17 + 3  3  2  753.01  L Kidney Not W e l l S e e n  17 + 3  3  2  745.63  A V Septum Defect  17 + 3  3  2  756.08  H e a d Measurements Are Smaller Than Expected (15 + 2 wks)  17 + 3  3  2  751 5  Suggestive Bowel Calcifications  45060  Hemivertebrae  45075 (5-6mm)  45084  45210  145  Ultrasound Findings  Appendix II Code  EGA  EGA  Amniotic  NO;  Dates  U/S  Fluid  Method Narrow o(TA  146  Diagnosis:  Code:  l7T3  761.2  Moderate Oligohydramnios  17 + 3  753.0  R Kidney Echogenic  17 + 5  742.39  Mild Ventriculomegaly  17 + 5  761.2  S e v e r e Oligohydramnios  17 + 5  754.73  Bilateral Club Feet  17 + 2  Single Live Fetus  17 + 2  A n asymmetric encephalocele is noted  17 + 2  Difficult t o a s s e s s fetal a n a t o m y due to d e c r e a s e d A F V  17 + 2  A fluid filled structure is identified p o s t e r i o r to the h e a r t - m a y b e the t r a c h e a s u g g e s t i n g a p o s s i b l e T E F  17 + 2  S p i n e a n d F a c e c o u l d not b e a d e q u a t e l y a s s e s s e d  17 + 2  S e v e r e Oligohydramnios  Successful Transcervical C V S F e t a 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  Abdominal Calcifications  18 + 3  A b d o m i n a l M a s s S e e n in L o w e r A b d o m e n 759.89  S u g g e s t i v e of C . F .  751.58  S u g g e s t i v e of B o w e l L o o p  15+4  742.48  C y s t i c S t r u c t u r e A r i s i n g F r o m B r a i n s t e m a n d L o c a t e d in P o s t e r i o r M i d l i n e  15+4  742.48  A b n Brain Development  15+ 4  742 48  N o Midline Structures S e e n  15+ 4  742.48  N o Brain Tissue A b o v e Brainstem/Cerebellum  15+ 4  753.8  Fetal Bladder Not S e e n  15+4  756.08  Large Forehead  15+4  743.67  Flattened Orbits  15+4  748.18  Flattened N o s e  15+4  746.80  Dextrocardia  15+4  747.5  2 V e s s e l Umbilical C o r d  15+4  742.32  Possibly Hydranencephaly  15+4  742.26  Possibly Holoprosencephaly  Outflow T r a c t s a p p e a r N o r m a l 31+5  761.3  Polyhydramnios  31+5  750.7  Small Stomach Visualized  31+5  764 9  IUGR  34  31+5  755.51  Clenched R Hand  34  31+5  755.51  Clubbed L Hand  31+5  757.7  Annexal M a s s Compatible with Dermal C y s t  34  31+5  34  31+5  745.68  31+5  750.38  Imp: T e n t a t i v e 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  745.49  Ventricular Septal Defect  Both Ventricles are Normal Partial A V C a n a l Defect fistula  Appendix III Method of TA  Autopsy F i n d i n g s Amniotic EGA at Fluid  Termination  Narrow  Diagnosis:  Code:  228.1  Imp: U / S d e t e c t e d C y s t i c H y g r o m a N o D e v e l o p m e n t a l A b n o r m a l i t i e s i n Intact P a r t s  756.08  Unossified Cranial Vault  747.21  Preductal Aortic Hypoplasia  755.51  Abnormal Hand Position  758.20  Imp: T r i s o m y 1 8 S y n d r o m e  755.50  B i l a t e r a l 5th F i n g e r C l i n o d a c t y l y  757.2  Bilateral Simian C r e a s e  758 00  Imp: D o w n ' s S y n d r o m e  754 o  F r o n t a l P a r i e t a l & O c c i p i t a l S k i n a n d Skull D e f e c t  742 28  A b s e n c e of Superior Sagittal S i n u s  742.48  N e u r o n a l M i g r a t i o n D i s o r d e r , Diffuse - C e r e b r a l  Hemispheres  Imp: M u l t i f a c t o r i a l N T D & C o n g e n i t a l C a r d i a c A b n o r m a l i t i e s 744.11  Bilateral Preauricular T a g s  741.90  Cervical Spinal Rachischisis  745.2  Tetralogy of Fallot  756.15  Thoracic  742.58  Absence of Dura  772.2  Subarachnoidal  Hemivertebrae  Hemorrhage  745.50 ? H e a r t S h o w i n g F e n e s t r a t e d F o r a m e n O v a l e 746.88 ? S m a l l P e r i c a r d i a l E f f u s i o n 778.0  Marked Ascites  511.9  M a r k e d R Pleural Effusion  511.9  M o d e r a t e L Pleural Effusion  753.38  M a r k e d Mineralization of K i d n e y  762.28  M a r k e d Mineralization of P l a c e n t a  778.0  Marked Hydrops  758.00  Imp: D o w n ' s S y n d r o m e - 4 7 , X Y , + 21  746.88  Blunting o f L L a t e r a l V e n t r i c l e  746.88  Abundant V a l v e Leaflets  759.24  S t r e s s Involution o f T h y m u s  751.01  M e c k e l ' s Diverticulum  779.89  Mild M a c e r a t i o n  746.88  Mild A s y m m e t r y of Ventricles  755.50  B i l a t e r a l 5th F i n g e r C l i n o d a c t y l y  748.58  Hyperplastic Alveolar Ridges  750.18  L a r g e Protruding T o n g u e  746.4  Asymmetric Aortic Valve  744.24  Low Set  748.51  S e v e r e Pulmonary Hypoplasia  Ears  S c a n t S k e l e t a l a n d F e t a l O r g a n s Identified 755 50  R hand 5th Finger Clinodactyly  758 74  Imp: 4 6 , X X , - 1 5 , t ( 1 5 q 2 1 q ) = 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 Feet  758.60  Imp: T u r n e r ' 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 , + m a r k e r  755.50  Bilateral 5th Finger Clinodactyly  (mosacism)  N o o t h e r d e v e l o p m e n t a l a n o m a l i e s i n p a r t s a v a i l a b l e for e x a m i n a t i o n  742.1  Microcephaly  762.2  Placenta - Ureaplasma Urealyticum  755.50  B i l a t e r a l 5th F i n g e r C l i n o d a c t y l y  743.1  Microphthalmia  756.61  D i a p h r a g m a t i c H e r n i a , Left, L a r g e , B o c h d a l e k T y p e  757 90  S c a l p Defect  7 4 9 21  B i l a t e r a l Cleft L i p  758 1 0  Imp: T r i s o m y 1 3 S y n d r o m e  749.21  B i l a t e r a l Cleft P a l a t e  758 58  Imp: 4 6 , X X , - 2 1 , + i ( 2 1 q ) N o D e v e l o p m e n t a l A n o m a l i e s i n Intact P a r t s  9*  1/2  750.18  Protruding T o n g u e  9*  1/2  742'  Microcephaly  9 * 1/2  747 38  Pulmonary Trunk Appears Hypoplastic  9 * 1/2  749.06  M i d l i n e Cleft in the Soft P a l a t e  9 * 1/2  758.09  Imp: M o s a i c 4 6 , X Y / 4 7 , X Y , + 21  9*1/2  IUD - 3 + 1/2 w e e k s r e t e n t i o n  S c a n t Internal O r g a n s a r e F o u n d Imp: A l p h a T h a l a s s e m i a , H b B a r t ' s H y d r o p s F e t a l i s  147  Autopsy F i n d i n g s  Appendix III Code No  Method ofTA  Amniotic EGA at Fluid  Termination  Narrow  Diagnosis:  Code. N o D e v e l o p m e n t a l A n o m a l i e s in P a r t s A v a i l a b l e  No Other Developmental Anomalies 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 , - 2 2 , + r(22)  755.50  Bilateral 5th Finger Clinodactyly  S c a n t O r g a n s a r e Identifies 758.58  Imp: U n b a l a n c e d  Translocation  No Developmental Anomalies  746.7  Aortic Valve Atresia  746.7  Tubular Hypoplasia o f Aortic A r c h  746.1  Dysplastic Tricuspid Valve  746.7  Hypoplastic L Heart  746.7  Hypoplastic Mitral V a l v e  758.10  Imp: T r i s o m y 1 3 S y n d r o m e  762.68  Umbilical C o r d C y s t  746 88  Hypertrophic R Ventricle  755 oo  Polydactyly of Both Hands  10* 6 10 + 6  N o D e v e l o p m e n t a l A n o m a l i e s i n Intact P a r 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 D e v e l o p m e n t a l A n o m a l i e s i n t h e Intact P a r t s 758 58  12 + 5  746.88  Polyvalvular Dysplasia  755.51  A b n o r m a l H a n d C l e n c h i n g 2 n d a n d 5th o v e r l a p p i n g 3 r d a n d 4 t h fingers, B i a l t e r a l  758.20  Imp: T r i s o m y 1 8 S y n d r o m e  758.00  Imp: D o w n ' s  12 + 5 12 + 5  Imp: T r i p l o i d y  Syndrome  E m b y r o i s not identified 762 28  A b n o r m a l Villus M o r p h o l o g y i n P l a c e n t a  754 73  L Club Foot  758.51  Pulmonary Hypoplasia  755.50  Bilateral Clinodactyly due to Hypoplasia o f Mid-Phalanges  757.2  Bilateral S i m i a n C r e a s e  744.88  Posterior Neck 8  758.00  Imp: D o w n ' s S y n d r o m e - 4 7 , X X , + 21  771.1  C y t o m e g a l o v i r u s Infection, V i r a l I n c l u s i o n s i n P l a c e n t a & F e t a l T i s s u e s including B r a i n  18 + 2  742.39  Mild  18 + 2  771.1  Imp: C y t o m e g a l o v i r u s  11 + 5  755.02  Polydactyly, Postaxial, Both Feet  11 + 5  755 00  Polydactyly, Postaxial, Both Hands  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  Hypoplastic Aortic Arch  756.30  1 2 R i b s Right a n d 11 R i b s Left S i d e  Hydrocephalus Infection  751 78  Pancreatic Dysplasia  751.62  Congenital Hepatic Fibrosis with Ductal Plate Malformation  757 2  Bilateral S i m i a n C r e a s e s  753.11  Bilateral C y s t i c Kidneys  748 18  Prominent  16 + 1/2  758 09  Imp: D o w n ' s S y n d r o m e ( m o s a i c )  16 + 1/2  755.50  B i l a t e r a l H y p o p l a s i a o f M i d P h a l a n x , Fifth F i n g e r  Nose  N o D e v e l o p m e n t a l A b n o r m a l i t i e s A r e F o u n d In T h e Intact P a r t s Imp: N o D e v e l o p m e n t a l A n o m a l i e s , F H x T u b e r o u s S c l e r o s i s  758.58 758 58  T r i p l o i d y C o n c e p t u s , 6 9 , X X X ( p r e n a t a l d i a g n o s i s & confirmatory t i s s u e c u l t u r e s ) Imp: T r i p l o i d y Scant Fetal Fragments N o n e o f t h e Internal O r g a n s w e r e S u b m i t t e d for E x a m i n a t i o n  751 01  M e c k e l ' s Diverticulum N o Other Developmental Anomalies  758.61  Imp: M o s a i c i s m 4 5 , X / 4 6 , 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  Bilateral 5th Finger Clinodactyly  758.00  Imp: D o w n ' s  12+ 1/2 wks  758 oo  E x a m i n a t i o n C o n f i r m s P r e n a t a l D i a g n o s i s o f T r i s o m y 21  12+ 1/2 wks  758.00  Imp: D o w n ' s S y n d r o m e - 4 7 , X Y , + 21  12 + 1/2 wks  758.00  C y t o g e n e t i c a l l y Identified a s T r i s o m y 21  Syndrome  148  Autopsy Findings  Appendix III Code No:  Method  Amniotic EGA at  of TA  Fluid  2 2  Narrow  Diagnosis:  Termination  Code:  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  1  18  748.58  Incomplete Lobation of Lung  2  1  18  748.51  Mild P u l m o n a r y H y p o p l a s i a  2  1  18  755.50  Bilateral 5th Finger Clinodactyly  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  Flattened Occiput  2  1  18  754.00  Flattened N a s a l Bridge  2  1  18  748.18  Broad Nose  2  1  18  750.18  Mildly P r o t u b e r a n t T o n g u e  2  1  18  758.00  Imp: D o w n ' s  2  1  19 * 1/2  2  1  19*1/2  2  1  19 * 1/2  31134  Syndrome  31464 758.70  Imp: K l i n e f e l t e r ^ S y n d r o m e - 4 7 , X X Y No Other Developmental  755.50  Anomalies  Bilateral 5th Finger Clinodactyly  31574 1  1  20  1  1  20  2  1  16  2  1  2  N o A b n o r m a l i t i e s a r e Identified i n Intact P a r t s 758.29  Imp: M o s a i c 4 6 , X Y / 4 7 , X Y , + i(18p)  16  741 03  Thoracolumbosacral  1  16  756.18  Saggital L Vertebrae  2  1  16  756.18  Butterfly V e r t e b r a e at T h o r a c o l u m b a r  2  1  16  741.03  Hydrocephalus  1  1  15 • 1/2  1  1  15+1/2  2  1  22  759.18  2  1  22  778.0  Imp: G e n e r a l i z e F e 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  Hydrops Fetalis  2  1  22  748.51  Pulmonary Hypoplasia  2  1  22  511.©  Pleural Effusions  2  1  22  742.48 7 S u b e p e n d y m a l P l a t e H e m o r r h a g e , s m a l l , right, B r a i n  2  1  22  759 18  1  1  12 + 1/2  1  1  12 + 1/2  1  1  1  1  1  1  2  1  16 * 2  742.48  Neuronal Migration Defect, Brain  2  1  16 + 2  751.62  Absent Peroxisomes,  2  1  16 + 2  759.87  Imp: Z e l l w e g e r S y n d r o m e { C e r e b r o h e p a t o r e n a l S y n d r o m e )  2  1  16 * 2  277.8  R e d u c e d Sedimentable C a t a l a s e Activity  2  1  16 + 2  754.00  Broad N a s a l Bridge  2  1  16 + 2  756.88  Vacular Degeneration, Cartilage Matrix, F o c a l  2  1  16 + 2  753.18  Renal Microcysts  2  1  15+1/2  756.34  L Rib Anomalies  2  1  15+1/2  748.51  Small Lungs  2  1  15 * 1/2  751.49  M a l r o t a t i o n , Midgut  2  1  15+1/2  756 18  Segmentation Anomalies, Vertebral Bodies, Cervical, Thoracic, a n d Lumbar  2  1  15 + 1/2  754 20  S c o l i o s i s , Left ( C e r v i c a l )  2  1  15+1/2  754.73  Club Feet  2  1  15 + 1/2  754.22  Spinal Retroflexion (Cervical)  2  1  15*1/2  741.98  Cervicothoracic  2  1  15*1/2  740.02  Anenecephaly  2  1  15*1/2  2  1  15*1/2  759.11  Small Adrenals  A c c e s s o r y Spleen  31703 Imp: M u l t i f a c t o r i a l N T D Meningomyelocele  Junction  32236 758.58  Imp: M o s a i c 4 7 , X Y , + 9 / 4 6 , X Y No Developmental Anomalies in Parts Available  32491 Steatosis, Moderate, Fetal Zone, Adrenal Gland  Microcystic Change, Cortex, Adrenal Gland  33222 S c a n t F e t a l T i s s u e i s Identified 758.58  Imp: 4 6 X X , - 1 3 , +der(13), t ( 1 2 ; 1 3 )  13  758.58  C h o r i o n Confined m o s a c i s m for chr. 2 + 21 double trisomy.  13  747.19  Hypoplastic Aortic Arch  13  758.09  Imp: 4 7 , X X , + 2 1 / 4 8 , X X , + 2 , + 2 1 c o n f i n e d t o p l a c e n t a  33256  33297  Liver  33299  Rachschisis  (Holo-Acrania)  Imp: M u l t i f a c t o r i a l N T D  33951 1  1  22  759.04  1  1  22  758.58  46, X X , - 1 3 , + der(13), t(13;15)  1  1  22  740.02  Anencephaly  1  22  1  1  22  753 00  Dysplastic Kidneys  1  1  22  751.49  M a l r o t a t i o n o f S m a l l a n d L a r g e Intestines  1  1  22  747.5  Single Umbilical Artery  1  1  1  1  747.5  2 Vessel Cord  1  1  758.00  Imp: D o w n ' s S y n d r o m e - 4 7 , X Y , + 21  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 T r a n s l o c a t i o n , 4 6 , X Y , - 9 , der(9), t(6:9)(q25;p24)pat  4  2  13 + 6  746.4  Bicuspid Aortic Valve  4  2  13 + 6  745.50 ? Slit-like F o r a m e n O v a l e  4  2  13 + 6  754.73  P N D o f Cleft L i p not c o n f i r m e d d u e t o F r a g m e n t a t i o n  34461 N o A b n o r m a l i t i e s a r e F o u n d i n Intact P a r t s  3456S  Bilateral Club Feet  149  Autopsy Findings  Appendix III Coda No:  Method o(TA  Amniotic EGA at Fluid  Termination  Narrow  Diagnosis:  Code: 747 41  Persistent L Superior V e n a C a v a  746.1 ?  Dysplastic Tricuspid Valve  747.32  Subpulmonic Stenosis  741.90  Rachischisis,  Thoracolumbar  Imp: M u l t i f a c t o r i a l 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 D e v e l o p m e n t a l A n o m a l i e s i n Intact P a r t s  755.50  Bilateral 5th Finger Clinodactyly  758.58  Imp: P a l l i s t e r - K i l l i a n ( t e t r a s o m y 1 2 p m o s a i c )  Syndrome  P N D of S a c r a l A g e n e s i s Not Confirmed Due T o Fragmentation N o Developmental Anomalies in Parts Available  Thoracolumbar  Rachischisis  Imp: M u l t i f a c t o r i a l N T D  Large Bilateral C y s t i c Nuchal Hygroma Hypoplastic Aortic A r c h IUD - r e t e n t i o n ? ? , l e s s t h a n 1 w e e k 778.5  E d e m a of Dorsum o f H a n d s a n d Feet  751.01  Small M e c k e l ' s Diverticulum  758.00  Imp: D o w n ' s S y n d r o m e - 4 7 , X X , + 21  16 • 1/2  748.58  T w o Lobed R Lung  16 • 1/2  754.73  R Club Foot  16 * 1/2  No Nuchal Webbing w a s Demonstrated  16 * 1/2  Imp: U / S Identified N u c h a l T h i c k e n i n g  16 * 1/2  N o Other Dev. Anomalies  756.30  11 ribs  742.28  A b s e n c e of Olfactory Bulbs and Tracts  759.21  C y s t i c C h a n g e s of Thyroid  17 * 1/2  751.78  Heterotopic Pancratic  17 * 1/2  758.10  Imp: T r i s o m y 1 3 S y n d r o m e - 4 7 , X Y , + 1:  17 * 1/2  753.01  M e c k e l ' s Diverticulum  17 * 1/2  753.88  Distended Urinary Bladder  17 * 1/2  748.58  Incomplete L u n g F l s s u r i n g  17* 1/2  746.00  Pulmonary Atresia  17 * 1/2  749.20  Cleft L i p , Left  17 * 1/2  752.86  Micropenis  17 * 1/2  749.20  Cleft P a l a t e , Left  17 • 1/2  751 49  Malrotation o f Intestines  17 • 1/2  747 5  Single Umbilical Artery  17 * 1/2  745.20  T e t r a l o g y o f Fallot  74741  Persistent L Superior V e n a C a v a  17 * 1/2 17 • 1/2 17 * 1/2 17 + 1/2 17 * 1/2  Tissue  746.88  Polyvatvular Nodular Dysplasia  747.26  Overriding Aorta  745.49  Ventricular Septal  753 69  Urethral M e a t a l S t e n o s i s a n d Forking  Defect  8- 19 wks  B i l a t e r a l Cleft P a l a t e  8- 19 Wks  P N D o f Dandy W a l k e r Malformation Not Confirmed D u e to Fragmentation P N D of Hydrocephalus Not Confirmed D u e T o Fragmentation B i l a t e r a l Cleft L i p  A r n o l d - C h i a r i ( C h i a r i T y p e II) M a l f o r m a t i o n Hydrocephalus Lumbosacral  Meningomyelocele  Imp: M u l t i f a c t o r i a l N T D  751.58  A b n o r m a l C l o a c a l P a r t i t i o n i n g (blind e n d i n g c o l o n )  752.88  Ambiguous Genitalia  511.9  Bilateral Pleural Effusion  762.8  Amnion Nodosum  761.2  Oligohydramnios S e q u e n c e  751.24  Anal Atresia Urethral S t e n o s i s Imp: U r o r e c t a l S e p t a l M a l f o r m a t i o n S e q u e n c e ( a k a 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 Hypoplasia  742 48  C e r e b e l l a r Herniation  74! 08  A r n o l d C h i a r i T y p e II M a l f o r m a t i o n  741 08  Lumbosacral O p e n Neural Tube  742 48  E l o n g a t i o n & F l a t t e n i n g o f the B r a i n s t e m Imp: M u l t i f a c t o r i a l N T D  742 54  Hydromyelia  Autopsy Findings  Appendix III Code No:  Method ofTA  Amniotic EGA at Fluid  Termination  Narrow  Diagnosis:  Code: 742.48  Midbrain Tectal Beaking  742.48  Small Posterior  Fossa  753.16  Bilateral C y s t i c R e n a l D y s p l a s i a  742.26  Alobar  Holoprosencephaly  Hypotelorism 748.18  Single Nostril  752.48  Absent External Genitalia  751.24  Anal Atresia  747.5  Single Umbilcial Artery  Urethral Atresia  Conjoined Urinary Bladder a n d Uterus 751.21 762.28  C o l o n E n d s Blindly S o m e Villus Dysmaturity Amnium Nodosum, Placenta Imp: H o l o p r o s e n c e p h a l y  & Cloacal Dysgenesis  746.4  Dysplastic Bicuspid Aortic Valve  746.88  Polyvalvular Dysplasia  754.50  Bilateral Equinovarus, Feet  753.99  Persistent Paramesonephric Ducts  742 48  Bilateral C h o r o i d Plexus C y s t s  758.20 a  Imp: T r i s o m y 1 8 S y n d r o m e & P e r s i s t e n t P a r a m e s o n e p h r i c Duct  755.51  A b n o r m a l H a n d P o s i t i o n i n g , 2 & 5 digits o v e r l a p p i n g 3 & 4 digits  758.20  Imp: T r i s o m y 1 8 S y n d r o m e - 4 7 , X Y , + 1 8  762.8  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 M i n e r a l i z a t i o n  751.62  F o c a l A r e a s of Calcification in Liver  751.01  M e c k e l ' s Diverticulum  755.50  L Hand, Clinodactyly of 5th Finger  755.01  R H a n d with Thumb T a g  752.86  P e n i s Urethral G r o o v e H a s Not F u s e d  746.09  Bicuspid Dysplastic Pulmonary Valve  746.4  Bicuspid Dysplastic Aortic Vatve  745.49  V S D , Perimembranous  746.88  Polyvalvular Dysplasia  748.51  Mild Pulmonary Hypoplasia  755.50  B i l a t e r a l 5th F i n g e r C l i n o d a c t y l y  755.51  A b n H a n d P o s i t i o n i n g with 2 n d & 5th F i n g e r s O v e r l a p p i n g 3 r d & 4 t h  758,20  Imp: T r i s o m y 1 8 S y n d r o m e - 4 7 , X X , + 1 8  755.38  Tibial Hypoplasia - L L e g  755 24  ? Distal Amputations  747.5  Single Umbilical Arteries  Hands  755.19  4 - 5 Syndactyly R Hand  755.38  Tibial Aplasia - R L e g  759.89  Imp: T i b i a l A p l a s i a / H y p o p l a s i a o r T i b i a l A p l a s i a / H y p o p l a s i a & E c t r o d a c t y l y  755.19  2 - 5 Syndactyly L Hand  P N D o f A n e n c e p h a l y not c o n f i r m e d d u e to f r a g m e n t a t i o n Imp: Multifactorial N T D N o A b n o r m a l i t i e s a r e found i n the intact p a r t s  758.00  Imp: D o w n ' s S y n d r o m e - 4 7 , X Y , + 21  755.50  B i l a t e r a l C l i n o d a c t y l y o f Fifth F i n g e r s  745.63  Partial A V C a n a l Defect  761.2  Potters F a d e s , Oligohydramnios  742.28  Absent Olfactory Bulbs  Effect  753 16  Bilateral Multicystic Dysplastic K i d n e y s  748.51  Pulmonary Hypoplasia  753.16  Imp: M u l t i c y s t i c D y s p l a s t i c K i d n e y s  Imp: Multifactorial N T D 741,90  Rachischisis, Thoracic  740,02  Anencephaly  755,50  B i l a t e r a l 5th F i n g e r C l i n o d a c t y l y  757.2  L Simian C r e a s e  751.01  M e c k e l s Diverticulum Imp: V a r i a t i o n i n N o r m a l P h e n o t y p e Couple Terminated b e c a u s e of i n c r e a s e d A F P  747.5  Single Umbilical Artery  741.01  Lumbar  754,73  B i l a t e r a l Clubfoot  755.51  Overlapping  P N D o f A r n o l d C h i a r i M a l f o r m a t i o n not c o n f i r m e d d u e t o f r a g m e n t a t i o n Meningomyelocele  Fingers  Cods No:  Method of TA  152  Autopsy F i n d i n g s  Appendix III Amniotic EGA at Fluid  Termination  Narrow  Diagnosis:  Codo: Imp: M u l t i f a c t o r i a l N T D  762.8  Imp: A m n i o t i c B a n d S y n d r o m e  755.24  D i s t a l A m p u t a t i o n , D i g i t s 3 - 5 , Left H a n d , A m n i o t i c B a n d s  755.19  S y n d a c t y l y o f 2-5 t o e s , B i l a t e r a l  749.29  B i l a t e r a l Cleft Lip  749.29  B i l a t e r a l Cleft P a l a t e ? A t y p i c a l P N D of A c r a n i a Not Confirmed  Imp: M u l t i f a c t o r i a l N T D 742.58 74 1 98  747.5  Thoracocervical Subarachnoid Cyst Compressing Spinal Cord Lumbosacral Meningomyelocele  Single Umbilical C o r d  753.00  Renal Agenesis, L  753.16  Multicystic Renal Dysplasia, R  753 88  Rudimentary Urinary Bladder  748.51  Pulmonary Hypoplasia  752.38  Rudimentary Uterus  759.18  Gonadal Rest, L Adrenal Gland  752.10  Absent R Fallopian Tube  762.60  Short Umbilical C o r d  753.20  L H y d r o n e p h r o s i s - Mild  757.8  P t e r y g i a at A x i l l a e a n d K n e e s  755.51  Bilateral Finger Overlapping  748.18  Broad Nose  759.89  Imp: P e n a S h o k e i r S y n d r o m e  750.18  Protuberant Tongue  754.78  Plantar Flexion, R Foot  '754.78  Dorsiflexion, L Foot  754.88  Abn Limb Positioning  754.00  Prominent  744.88  Shortened N e c k  756.08  H e a d is Enlarged and W i t h A S h a p e Suggestive o f C l o v e r i e a f Skull  755.88  Widened Trabeculae  755 88  M a r k e d Shortening of Long B o n e s  Forehead  M a r k e d B o w i n g of L o n g B o n e s Pulmonary Hypoplasia 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 Neuronal  Heterotopias  742.28  F a i l u r e o f P r o p e r F o r m a t i o n o f the H i p p o c a m p u s  755.88  Disorganization of Endochondral G r o w t h Plate  N o D e v e l o p m e n t a l A n o m a l i e s in Intact P a r t s 758.10  Imp: T r i s o m y 1 3 S y n d r o m e - 4 7 , X Y , + 1 3  745.49  Ventricular Septal Defect  745.11  D o u b l e Outlet R V e n t r i c l e  746 oo  A b s e n t P u l m o n a r y V a l v e with A b s e n t D u c t u s A r t e r i o s u s  75500  Hexadactyly  749 21  B i l a t e r a l Cleft L i p  749 21  B i l a t e r a l Cleft P a l a t e  747.5  Single Umbilical Artery  758.10  Imp: T r i s o m y 1 3 S y n d r o m e - 4 7 , X Y , + 1 3  228.1  Cystic Hygroma  758.60  Imp: T u r n e r ' s S y n d r o m e - 4 5 , X  747.5  2 - Vessel Cord  778.0  Severe Hydrops  747.10  Preductal C o a r c t a t i o n of Aorta, B i c u s p i d Aorta  748.51  Pulmonary Hypoplasia  762 28  Villus 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 , h a n d s a n d feet  753 i s  Multiple S i m p l e ( h y d r o n e p h r o t i c ) L R e n a l C y s t  757 2  R Simian Crease  755.51  O v e r l a p p i n g F i n g e r s , Bilaterally  759.21  C y s t i c D y s p l a s i a of Thyroid  524.0  Micrognathia  751.68  G e n e r a l i z e d Intrahepatic Bile S t a s i s , P r o b a b l y S e c o n d a r y to E x t r a h e p a t i c Biliary O b s  742.88  G e r m i n a l E m i n e n c e H e m o r r h a g e , unruptured, R  746 6  P o l y v a l v u l a r D y s p l a s i a with A t r e s i a a n d S t e n o s i s o f M i t r a l V a l v e  753.41  Duplication of L Ureter a n d L Collecting S y s t e m  762.28  M i l d F o c a l E d e m a o f C h o r i o n i c Villi with H y p e r m a t u r e Villi  751.72  N e a r Complete Annular P a n c r e a s  758.20  Imp: T r i s o m y 18 S y n d r o m e  756 61  M a s s i v e L D i a p h r a g m a t i c H e r n i a with a b s e n c e o f L H e m i d i a p h r a g m w i t h r e s i d u a l L d i a p h r a g m a t i c  band  i x III Code No:  Method of TA  Autopsy Findings Amniotic EGA at Fluid  Termination  Narrow  Diagnosis:  Code: 756.61  D i a p h r a g m a t i c H e r n i a w i t h h e r n i a t i o n of s m a l l b o w e l , L L o b e o f L i v e r , & S t o m a c h in t o L c h e s t c a v i t y  759.08  Splenic Lobation  756.61  D i a p h r a g m a t i c H e r n i a w i t h H e a r t , M e d i a s t i n a l D i s p l a c e m e n t into R C h e s t C a v i t y  751.49  Mobile Proximal Small Bowel, C a e c u m and Sigmoid  745.48  Perimembranous V S D  746.88  Hypoplastic L Ventricle  747.21  S e v e r e T u b u l a r H y p o p l a s i a of A o r t i c Isthmus with P r e d u c t a l C o a r c t a t i o n  747.41  Persistent L Superior V e n a C a v a  748 58  I n c o m p l e t e L o b a t i o n of L u n g s , Bilaterally  751 01  M e c k e l ' s Diverticulum  751.73  Ectopic Pancreas  748.61  Bilateral Pulmonary Hypoplasia  i  745.4B  V S D , muscular  i  746 4  Dysplastic Bicuspid Aortic Valve  t  746 88  Mild Polyvalvular D y s p l a s i a  t  744.88 ? M i l d N u c h a l S w e l l i n g  i  747 19  i  758 20  Imp: T r i s o m y 18 S y n d r o m e  i  749.19  Cleft L i p  i  755.51  A b n Hand Positioning - Camptodactyly  I  751.01  M e c k e l ' s Diverticulum  I  753.32  Horseshoe Kidney  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 A o r t i c A r c h - 4 7 , X Y , + 18  Imp: M o s a i c 4 6 , X X , del(18)(p11) / 4 6 , X X , i 1 8 q ) N o A b n o r m a l i t i e s in Intact P a r t s  742 39  H y d r o c e p h a l u s - E n l a r g e d H e a d (90th  764.9  M i l d Intrauterine G r o w t h R e t a r d a t i o n  759.82  Imp: S m i t h - L e m i - O p i t z ( T y p e II)  749.06  Cleft P a l a t e , M i d l i n e  524.0  Small Mandible  Percentile)  748.18  Upturned N o s e with Small N a r e s and C h o a n a e  750.11  Abbreviated Tongue  744.24  L o w set e a r s with s h a l l o w auditory c a n a l s  756.02  Hypertelorism E x c e s s Scalp Tissue, Occiput M e c o n i u m igmentation, Placental m e m b r a n e s  764.9  S m a l l for G e s t a t i o n a l A g e ( 2 2 w k s )  750.28  Prominent Gingival R i d g e s  756.17  Segmentation Defects and  744.91  Craniofacial Dysmorphism  F u s e d Vertebrae, S a c r u m and absent Pedicles  752.81  Dysplastic abdominal testes  747.5  Single Umbilical Artery  751.78  H y p e r p l a s i a , Islets of L a n g e r h a n ' s ,  751.49  M a l r o t a t i o n of Intestine  748.58  Dysplastic Pulmonary  748.69  Bilateral Unilobated Lungs  748.51  H y p o p l a s i a of L u n g s  755.19 755.09 743.8 753.00 753.00 755.60 752.71  751.11  Pancreas  Parenchyma  S y n d a c t y l y 2 - 3 , a n d 5-6, F e e 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 F e e t Cataracts and Optic Nerve Hypoplasia, E y e s Oligohydramnios S e q u e n c e A g e n e s i s of K i d n e y s and Uterus, Bilateral Digitalized Thumbs & G r e a t T o e s Male Pseudohermaphroditism  - e x t e r n a l f e m a l genitalia with a b s e n t u t e r u s a n d fallopian t u b e s  Jejunal 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  Bilateral Talipes  751.20  Colonic Atresia  Equinovarus  26 (dates). 20 (G.P.)  Mild Chorioamnionitis  26 (dales). 20 (G.P.)  Cystic Hygroma  26 (dates), 20 (G.P.)  Imp: F e a t u r e s C o n s i s t e n t W i t h T u r n e r s S y n d r o m e  26 (dates), 20 (G.P.)  R e t e n t i o n for 6 w k s ?  26 (dates), 20 (G.P.)  G e n e r a l i z e d E d e m a , D o r s u m of F e e t , T h i g h & A r m  19 + 1/2  758 82  19 * 1/2  lmp:46,XY/47,XXY  Mosaic  No Developmental Anomalies  19 * 1/2  D e p r e s s e d N a s a l Bridge  19 + 1/2  T i s s u e Consistent W i t h Origin F r o m an Omphalocele  19 • 1/2  Adrenal Cortical Rest  19 * 1/2  744.28  E a r s a r e T h i c k w a l l e d with F o l d e d L o b e s  19 • 1/2  759.04  Accessory Spleen  742.39  Hydrocephalus  Autopsy F i n d i n g s  Appendix III Method of TA  Amniotic EGA at Fkid  Termi nation  Narrow  Diagnosis:  Code: 747.5  Single Umbilical Artery  742.88  Absent Olfactory N e r v e s  P N D o f C y s t i c H y g r o m a N o t C o n f i r m e d D u e to F r a g m e n t a t i o n V S D , Peri membranous, Large 12 + 1/2  Imp: T r i s o m y 1 8 S y n d r o m e - 4 7 , X X , + 1 8  12 + 1/2  Polyvalvular Dysplasia , T V , P V , M V , A V  742.48  D y s g e n e s i s of Olivary Nucleus  753.32  C r o s s e d R e n a l Ectopia with Fusion  747.5  2 V e s s e l Umbilical C o r d  762.80  Small P l a c e n t a with Short Umbilical C o r d  759.11  Hypoplastic Adrenal Glands  745 63  Complete Atrioventricular Septal Defect  758,58  Imp: T r i p l o i d y - 6 9 , X X X  755.19  S y n d a c t y l y o f 3 r d & 4th D i g i t s o f R H a n d  744.24  L o w Set Ears  749.20  L Cleft P a l a t e  749.20  L Cleft L i p  524.0  Micrognathia  756.02  Hypertelorism  747 41  Persistent L Superior V e n a C a v a  740.02  Anencephaly  748.51  Small Lungs  755.50  B i l a t e r a l 5th F i n g e r C l i n o d a c t y l y  741.90  Cervical Rachischisis Imp: M u l t i f a c t o r i a l N T D  745,63  A V C a n a l Defect, Complete  745 58  A S D , Large, C o m m o n Atrium  747.28  Subaortic Stenosis,  75802  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 - 4 6 , X Y , - 1 3 , + der(13), t ( 1 3 ; 2 1 )  Moderate  No Other Developmental Anomalies 742 39  Hydrocephalus  748.51  Pulmonary Hypoplasia  753.88 ? M e g a c y s t i s 759.7  U n k n o w n etiology of Limb H y p o p l a s i s ? Oligohydramnios S e q . o r V a s c u l a r Obstruction  762.20  P l a c e n t a with F o c a l Infarction  742.88  Germinal Eminence  755.38  H y p o p l a s t i c L L o w e r Limb  Hemorrhage  744.28 ? Infraorbital L o b e s 744 24  Low Set Ears  761 2  Oligohydramnios S e q u e n c e  753,00  Bilateral R e n a l D y s p l a s i a  752 84  Absence of Prostate Gland  753,22  Megaureter  524,0  Micrognathia  752.51  Undescended Testes  754.78  A b n L Foot with Single T o e  744.24  L o w Set Ears  762.28  Partial Placenta Circumvatlate  749.03  Cleft P a l a t e , P o s t e r i o r  748,51  Small Lungs  756.62  Mild E v e n t r a t i o n of L Hemidiaphragm  r?  Ependymitis  742 38  Stenosis of Aqueduct  772 1  O l d Intraventricular  755.30  Limb R e d u c t i o n A n o m a l y (lower L i m b s )  755.50  Digitalization of Thumb L H a n d  Hemorrhage  755,19  S y n d a c t y l y o f D i g i t s 1-3 L H a n d  742.48  A b n o r m a l C e r e b e l l a r L e p t o m e n i n g e s (pia)  742.88  A b s e n c e of Olfactory N e r v e s  755,32 •? A b s e n t F i b u l a , L L e g 755.32 ? A b n & H y p o p l a s t i c T i b i a , L L e g 760.B  Imp: P o t e n t i a l T e r a t o g e n i c Insult at 6 w k s D e v . / M a t . B l e e d i n g D i a t h e s i s / M C A  742.39  Mild Hydrocephalus  742.41  A b s e n c e of Corpus Catlosum + Cinguhim  N o A b n o r m a l i t i e s i n Intact P a r t s 758.61  Imp: C P M 4 5 , X / 4 6 , X , + m a r k e r  755.19  L Foot Syndactyly (2nd & 3rd T o e s )  758.58  Imp: Triploidy  747,5  Single Umbilical Artery  759.11  Adrenal Hypoplasia  154  Appendix III Method ot TA  Autopsy F i n d i n g s Amniotic EGA at Fluid  Termination  Narrow  Diagnosis:  Coda: 752.28  Small Placenta  746.4  Bicuspid Aortic V a l v e  764,9  Asymmetrical IUGR  748.51  Pulmonary Hypoplasia  755.19  R H a n d S y n d a c t y l y (3rd & 4 t h F i n g e r s )  748.58  A b n Lung Lobation  756.15  Butterfly V e r t e b r a e , T h o r a c i c Imp: M u l t i f a c t o r i a l N T D  741.08 741.08 741.08  13 • 1/2 13* 1/2  Hydrocephalus Thining of C e r e b r a l Mantle  756.79  P r o t u b e r a n t A b d o m e n but N o O m p h a l o c e l e  746.1  Hypoplastic Dysplastic Tricuspid Valve  746 4  Dysplastic Bicuspid Aortic V a l v e  778.5  Mild Generalized Subcutaneous E d e m a  746.00  P u l m o n a r y A t r e s i a with Intact V e n t r i c u l a r S e p t u m  746.68  Hypoplastic R Ventricle  755,88  Mild S h o r t e n i n g o f L i m b s - D i s t a l A n d P r o x i m a l  755.50  B i l a t e r a l 5th F i n g e r C l i n o d a c t y l y  758.00  Imp: D o w n ' s S y n d r o m e - 4 7 , X X , + 21  13 * 1/2 13 + 1/2  Lumbosacral Meningomyelocele  N o D e v e l o p m e n t a l A n o m a l i e s i n Intact P a r t s  762.28 753,38 778 o  P N D o f C y s t i c H y g r o m a N o t C o n f i r m e d D u e to F r a g m e n t a t i o n 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 Villus E d e m a A F e w D i l a t e d L y m p h a t i c in the K i d n e y Imp: F e t a l H y d r o p s  N o O t h e r D e v e l o p m e n t a l A b n o r m a l i t i e s i n Intact P a r t s 753.00  Bilateral R e n a l A g e n e s i s  758.60  Imp: T u r n e r ' s S y n d r o m e - 4 5 , X  778,0  Hydrops Fetalis Abdominal Ascites Coarctation of Aorta Cystic Hygroma  776.5  Diffuse S u b c u t a n e o u s E d e m a  748.51  Pulmonary Hypoplasia Bilateral Pleural Effusions  17 * 1/2  744.24  Low-Set Ears  17 * 1/2  553.1  Omphalocele Containing Liver and Bowel  17 * 1/2  758.20  Imp: T r i s o m y 1 8 S y n d r o m e - 4 7 , X X , + 1 8  17 * 1/2  746 88  Polyvalvular Dysplasia  17 • 1/2  747.19  Coarctation of Aorta  17 + 1/2  74548  V S D , Large,  17 * 1/2  747.5  Single Umbilical Artery  Perimembraneous  740 21  Ininencephaly Apterus  756.60  A g e n e s i s o f D i a p h r a g m , 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, liver, s p l e e n , p a n c r e a s , & gut  74190  Cervicothoracic Rachischisis  756 71  G a s t r o s c h i s i s (? Omphalocele)  746.4  Bicuspid Aortic V a l v e with S t e n o s i s  762.60  Short Umbilical C o r d  757 8  Pterygia  744.28  Bilateral Anterior Axiallary Folds  747,10  Preductal Coarctation o f Aorta  746 88  E n l a r g e d R Atrium  748.58  Small Single Lobed 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  Fusion of Vertebrae S 2 + S 3  757.2  Bilateral Simian C r e a s e  755.50  B i l a t e r a l 5th F i n g e r C l i n o d a c t y l y  747.5  Single Umbilical Artery  751.21  R e c t o v e s c i c l e Fistula  751.23  Imperforate A n u s  753 oo  Renal Agenesis, R Kidney  750 31  Tracheoesophageal  758 oo  Imp: D o w n ' s S y n d r o m e  759,89  Imp: P r o b a b l e V A T E R A s s o c i a t i o n  753,00  Renal Hypoplasia, L Kidney  22-23  741.90  Thoracolumbar Rachischisis  22-23  754.73  Bilateral Club Feet  22-23  F i s t u l a , T y p e IIIB  Imp: M u l t i f a c t o r i a l N T D  Appendix III Method of TA  Autopsy F i n d i n g s Amniotic H G A at Fluid  Termination  Narrow  156  Diagnosis:  Code:  758.20  imp: T r i s o m y 18 S y n d r o m e - 4 7 , X X , + 18  755.51  C a m p t o d a c t y l y w i t h 2 n d & 5th Digits O v e r l a p p i n g 3rd & 4th F i n g e 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 D e v e l o p m e n t a l A n o m a l i e s Identified in t h e Intact P a r t s H e a d i s s e v e r e l y d a m a g e d a n d not a s s e s s a b l e .  18 + 1/2  772.1  O l d Intraventricular  755.50  B i l a t e r a l 5th F i n g e r C l i n o d a c t y l y  750.18  Protruding Tongue  755.60  S h o r t 1st T o e with E n l a r g e d gap btwn 1st & 2 n d T o e s  756.30  11 R i b s  745 48  V S D , Small,  18 * 1/2  Hemorrhage  Perimembranous  Imp: D o w n ' S y n d r o m e - 4 7 , X X , + 21  742.58  Leptomeningeal Glial Heterotopias  771.1  Imp: Intrauterine C M V Infection  754.73  Club Feet  742.48  C a v i t a t e d l e s i o n , L F r o n t a l L o b e (Brain)  772.1  H e m o r r h a g e s , r e c e n t a n d old (brain)  744.24  Low-Set Ears  757.2  Simian Crease - R Hand  748 si  Pulmonary Hypoplasia  524.0  Small Mandible  742.25  Polymicrogyria  742.28  N e c r o s i s o f L o w e r Half C o r t e x R i s t Insula P o s t e r i o r (Brain)  7780  Hydrops Fetalis  771.1  C y t o m e g a l i c I n c l u s i o n , including l i v e r , p a n c r e a s , i n t e s t i n a l tract, p l a c e n t a , a d r e n a l c o r t e x , k i d n e y & b r a i n  742.23  F o c a l L o s s of External Granular L a y e r , Cerebellum  762 or 77 Imp: A c q u i r e d M a t . Antiplatlet A n t i b o d y L e a d i n g to F e t a l AHoimmune t h r o m b o c y t o p e n i a & h e m o r r h a g i c 778.0  Mild Fetal Hydrops  742 48  Cerebral, Cerebellar and Brainstem  511.9  Bilateral C l e a r Pleural Effusions  Hemorrhages  762.23 ? M a t e r n a l Antiplatelet A n t i b o d i e s 753.18  21  Hematopoesis  No Dev. Anomalies  21  758.84  u  758.10  14  23  R e n a l Extramedullary  Imp: 4 7 , X Y Y S y n d r o m e  Imp: T r i s o m y 1 3 S y n d r o m e - 4 7 , X Y , + 1 3 N o D e v e l o p m e n t a l A n o m a l i e s Identified in t h e A v a i l a b l e Intact P a r t s  753.80  Hypoplastic Bladder  23  761.2  Oligohydramnios S e q u e n c e  23  754.88  Limb Contractures  23  762.20  Placental Chorangioma  23  744.24  Flat L o w S e t E a r s  23  748.51  Hypoplastic Lungs  23  748.18  Small Flattened N o s e  23  ' 753.16  12*1/2 G P . 14-15 date 12+1/2 GP. 14-15 date  Bilateral C y s t i c R e n a l D y s p l a s i a  N o C o m m e n t s in R e p o r t A b o u t F e t a l T i s s u e s E x a m i n e d 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 D e v e l o p m e n t a l A n o m a l i e s A r e Identified in Intact P a r t s  19 + 1/2  No Developmental Anomalies  19 + 1/2  Imp: 4 5 , X / 4 7 , X X X  Mosaic  23 + 1/2  751.24  L o w Imperforate A n u s  23 + 1/2  750.24  Asymmetric High A r c h e d Palate  23 + 1/2  750.18  Short Lingual Frenulum  23 + 1/2  524.0  Mildly S m a l l M a n d i b l e  23+ 1/2  742.28  H y p o p l a s i a of Olfactory Bulbs/Tract  23+ 1/2  742.58  Duplication of Central C a n a l , S p i n a l C o r d  23+ 1/2  759.08  S p l e n g o g o n a d a l F u s i o n , Left S i d e  23 + 1/2  744.24  L o w Set Ears  23 + 1/2  755 40  Q u a d r a - A m e l i a ( c o m p l e t e a b s e n c e o f all L i m b B o n e s a n d Soft T i s s u e s )  23 + 1/2  759 89  Imp: L i m b A n o m a l i e s - U n k n o w n C a u s e  740.02  Anencephaly  741.90  Cervical Spinal Rachischisis  759.11  Hypoplastic Adrenal Glands  748.51  Pulmonary Hypoplasia  754.73  C l u b F o o t , Right  753 32  Horseshoe Kidneys  Imp: M u l t i f a c t o r i a l N T D  complications  Appendix III Code NO'  Mothoa  Autopsy Findings Amniotic EGA at  of TA  Fluid  1 1  Narrow  Diagnosis:  Termination  Code:  1  17*5  741.98  1  17* 5  2  1  19-20  740.02  Anencephaly  2  1  19-20  759.11  Adrenal Hypoplasia  2  1  19-20  748.51  Pulmonary Hypoplasia  2  1  19-20  753.38  C r o s s e d Renal Ectopia - L Hand  2  1  19-20  752.38  U n i c o m a t e U t e r u s ( A b s e n t L U t e r i n e Horn)  2  1  19-20  2  1  19-20  ;  1  22  N o D e v e l o p m e n t a l A n o m a l i e s i n Intact P a r t s  1  22  H e a d / B r a i n N o t A c c e s s a b l e , P N D findings not c o n f i r m e d  1  22  Imp: U / S identified B r a i n A n o m a l i e s  Lumbosacral Meningomyelocele lmp:Multifactorial N T D  36993 (Meroacrania)  Imp: M u l t i f a c t o r i a l N T D , Incomplete Multerian F u s i o n 755.01  Preaxial Thumb T a g (Polydactyly - R Hand)  37114  37134 2  1  16 * 5  747.64  R e t r o e s o p h a g e a l R Subclavian Artery  2  1  16 * 5  758.10  Imp: T r i s o m y 1 3 S y n d r o m e - 4 7 , X X , + 1 3  2  1  15* 5  744.88 ? N u c h a l E d e m a  2  1  16 * 5  755.00  Post-Axial T a g - R hand  2  1  16 * 5  749.07  Cleft Soft P a l a t e  2  1  16* 5  553.1  Omphalocele  2  1  16*5  747.5  Single Umbilical Artery  2  1  16 + 5  756 17  Sacrococcygeal  1  1  10 + 6  758.60  1  1  10 * 5  No Developmental Anomalies in Parts Available  1  1  10 * 6  H e a d i s s e v e r e l y d a m a g e d a n d not a s s e s s a b l e .  1  1  1  Teratoma  37154 Imp: T u r n e r ' s S y n d r o m e - 4 5 , X  37164 17  757.2  Bilateral Simian C r e a s e  1  17  758.00  Imp: D o w n ' s S y n d r o m e  1  17  755.50  1  1  17  1  1  14 * 1/2  1  1  14 * 1/2  1  1  14 * 1/2  758.10  Imp: T r i s o m y 1 3 S y n d r o m e  1  1  17* 4  755.02  Polydactyly, P o s t a x i a l , Bilateral, Feet  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 = T r i s o m i c for C h r 1 3  1  1  17 + 4  755.00  Polydactyly, Postaxial, Bilateral, Hands  1  1  17 + 4  1  1  17 + 4  754.73  Bilateral Club Foot  1  1  16+1/2 9p, 17+4 dates  756 08  Cephalocele, Atretic, Occipital, (No Neuronal Component)  1  1  16+1/2 gp, 17+4 dates  Imp: L i k e l y M u l t i f a c t o r i a l N T D but c a n n o t fully rule out A R c o n d i t i o n  1  1  16+1/2 gp. 17*4dates  N o Other Developmental Anomalies  B i l a t e r a l 5th F i n g e r C l i n o d a c t y l y Multiple p l a c e n t a l a n d fetal f r a g m e n t s  37166 755.01  Pre-axial Polydactyly, Bilateral Thumbs S c a n t Internal V i s c e r a R e c e i v e d  37169  P N D o f S p i n a Bifida Is N o t C o n f i r m e d D u e T o F r a g m e n t a t i o n  37182  37304 1  14  758.00  1  1  14  ,  1  21  1  1  21  742.00  Occipital Encephalocele  ,  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 c o n f i r m e d d u e to  fragmentation  No Developmental Anomalies in Parts Available  37326 Imp: M u l t i f a c t o r i a l N T D  1  1  21  741.98  Meningomyelocele  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 Simian Crease  2  1  19+1/2  756.08  Flat O c c i p u t  2  1  19*1/2  755.50  Bilateral 5th Finger Clinodactyly  2  1  19*1/2  748.51  Borderline Small Lungs  2  1  23  748.51  Hypoplastic Lungs  2  1  23  750.18  Protuberant Tongue  2  1  23  756.34  Short Ribs  2  1  23  756.18  Platyspondyly  2  1  23  754.42  Telephone Receiver Femora  2  1  23  744.24  Low Set Ears  2  1  23  754 00  Flat M i d f a c e  2  1  23  748.58  Incomplete Lobation o f R Lung  2  1  23  742.48  Migration A b n in Incomplete Lobation  2  1  23  754.82  Narrow Chest  2  1  23  751.5B  Multiple D i v e r t i c u l a o f t h e A p p e n d i x  2  1  23  754.4 762.28  37327  37341  S h o r t n e s s a n d Bowing of Limb B o n e s  2  1  23  2  1  23  2  1  23  759.18  Fetal Hypoxic Distress - 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 Adrenal Cortex  2  1  23  742.48  B r a i n s h o w e d abnormally l a r g e infolding t e m p o r a l l o b e s  743.63  Oligohydramnios Phenotype: Prominent Epicanthal Folds  P l a c e n t a with A c c e l e r a t e d Villus M a t u r a t i o n N o r m a l Trunk L e n g t h  157  Appendix III Code No:  Method of TA  Autopsy Findings Amniotic EGA at Fluid  Termination  Narrow  Diagnosis:  Code: 753.16  Imp: R e n a l A d y s p l a s i a o r S p o r a d i c R e n a l D y s p l a s i a a n d A g e n e s i s  753.88  Allantoic Bladder  744.24  Oligohydramnios Phenotype: L o w Set Ears  524.0  Oligohydramnios Phenotype: R e c e s s e d Chin  753.00  U n i l a t e r a l R e n a l A g e n e s i s , Right  753.16  M u l t i c y s t i c D y s p l a s t i c Left K i d n e y  748.51  Oligohydramnios Phenotype: Pulmonary Hypoplasia  Kidney  Oligohydramnios Phenotype: Amnion Nodosum 3 . 5 % R . R . for siblings i n families with n o h i s t o r y a n d p a r e n t s w i t h n o r e n a l p r o b l e m s Abn. Gyral Pattern of Cerebral Hemispheres  754.00  F a c i e s consistent with Oligohydramnios  753.00  Renal Aplasia  754.88  Chest Hypoplasia  754.73  P o s s i b l e Club Feet  755.24  4 Digits Only, Upper Limbs - Bilateral  753 40  Absent Ureters  751.24  Imperforate A n u s  748.51  Bilateral Pulmonic Hypoplasia  753.88  Bladder Hypoplasia  756 30  B i l a t e r a l R a d i a l R a y A n o m a l i e s , 11 ribs R s i d e , 1 2 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  A b s e n t R a d i u s Bilaterally  524 0  Micrognathia  759.89  Imp: Multiple P t e r y g i a S y n d r o m e  754.20  Severe Levoscoliosis  757 a  P r o m i n e n t P o p l i t e a l , Axillary & C u b i t a l P t e r y g i a  748.51  S e v e r e Pulmonary Hypoplasia  744.24  Low Set Ears  751.01  M e c k e l ' s Diverticulum  744.88 ? M i l d N u c h a l T h i c k e n i n g 756.92  Abnormal B o n e Maturation  751.73  Ectopic Pancreas  755.51  Clenching Fingers, Bilateral  748.51  D e c r e a s e d Lung Weight  762.28  H y p o v a s c u l a r Villi  747.5  Single Umbilical Artery  758.10  Imp: T r i s o m y 1 3 S y n d r o m e  744 24  Low-Set Ears  748.18  Beak-Like Nose  756.68  L S i d e d Diaphragmatic  742.1  Microcephaly  742 48  D e c r e a s e d Brain Weight  Hernia  N o D e v e l o p m e n t a l A n o m a l i e s i n Intact P a r t s 758,58  Imp: 4 6 , X Y , - 4, + der(4), t ( 4 ; 1 1 ) ( q 3 5 ; q 2 1 ) m a t .  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 & F e e t Nuchal Cystic Hygroma 751.68  S u b c a p s u l a r Calcification in Liver with Hemosiderin  758.60  Imp: T u r n e r s S y n d r o m e  744.24  Slightly L o w S e t E a r s  755.50  B i l a t e r a l C l i n o d a c t y l y d u e to a b s e n c e o f M i d P h a l a n x 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 O c c i p u t  750.18  Protruding T o n g u e  Deposition  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  758.00  Imp: D o w n ' s S y n d r o m e  17+ 6  755.50  Bilateral 5th Finger Clinodactyly with A b s e n c e of Middle Phalanx  753.18  C y s t i c C h a n g e in Kidneys  755,50  Bilateral 5th Finger Clinodactyly  758.00  Imp: D o w n ' s S y n d r o m e  762.28  B a s e m e n t M e m b r a n e M i n e r a l i z a t i o n o f C h o r i o n i c Villi F r e s h fetal a n d p l a c e n t a l t i s s u e (fetal parts)  755.50  Bilateral 5th Finger Clinodactyly  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 Defect  757,2  Bilateral S i m i a n C r e a s e s  No other Developmental 755 50  Clinodactyly R 5th Finger  758,00  Imp: D o w n ' s S y n d r o m e  Anomalies  158  Autopsy Findings  Appendix III Code No:  Method olTA  Amniotic EGA at Fluid  Termination  Narrow  Diagnosis:  Code: 744 88 7 M i n i m a l N u c h a l T h i c k e n i n g 759.18 553.1 747 5  A d r e n a l C y t o m e g a l y w i t h Impaired N e u r o b l a s t M i g r a t i o n Omphalocele Single Umbilical Artery  553.1/759 Imp: I s o l a t e d O m p h a l o c e l e o r B e c k w i t h - W e i d e m a n n  755 50  B r a c h y d a c t y l y o f Right H a n d  754.4  Shortening & Bowing of Long Bones  755 38  Absent Fibula  755 19  Oligosyndactyly of Foot  Syndrome  P N D o f C N S A b n o r m a l i t i e s N o t C o n f i r m e d D u e to F r a g m e n t a t i o n  553 1  Omphalocele Imp: F u h r m a n n S y n d r o m e o r a n o t h e r s k e l e t a l d y s p l a s i a s y n d r o m e  755.88 ? A b n o r m a l D i s t a l O s s i f i c a t i o n  750 18  Protuberant Tongue  757.2  Bilateral Simmian C r e a s e  758.00  Imp: D o w n ' s S y n d r o m e  755.50  Bilateral 5th Finger Clinodactyly  755.50  Brachydactyly, Hands, Mild  756.08  Hypotelorism  749.21  B i l a t e r a l Cleft P a l a t e  749.21  B i l a t e r a l Cleft L i p  743 1  R u d i m e n t a r y E y e A n a l o g u e F u s e d with C e r e b r a l T i s s u e  742.26  Brain Consistent with  753 oo  Renal Hypoplasia  Holoprosencephaly  751.73  Ectopic Pancreas  75110  Membranous Duodenal Atresia  762.28  Large P l a c e n t a with Marginally Attached Umbilical 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 Simian Crease  755.50  Bilateral 5th Finger Clinodactyly  759.24  Large Hassall's Corpuscle,  751.33  Hirschsprung's D i s e a s e  Thymus  Acute Fetal Distress A s p i r a t e d A m n i o t i c Fluid S q u a m e s , L u n g s  S c a n t Internal V i s c e r a a r e identified No Developmental Anomalies in Parts Available 758.00  Imp: D o w n ' s S y n d r o m e  7431  Microophthalmia  747 26  Overriding Aorta  746.83  Subvafvular Pulmonic S t e n o s i s  746.08  Bicuspid Pulmonic Valve  747.32  Pulmonary Artery S t e n o s i s  746.1  Dysplastic Tricuspid Valve  747 41  Persistent L Superior V e n a C a v a  75550  Polydactyly and Clinodactyly o f 5th Finger, Bilateral  751.01  M e c k e l ' s Diverticulum  754.00  D e p r e s s e d N a s a l Bridge  751 73  Ectopic Pancreas  749.07  Cleft Soft P a l a t e w i t h Bifid U v u l a  744.28  Poorly Developed Aural Pinnae  751 49  Intestinal M a l r o t a t i o n  742.28  A b s e n t O l f a c t o r y Bulb a n d T r a c t  759.04  Accessory  744.24  L o w Set Rotated Ears  653 1 743.67  Spleen  Omphalocele D e e p Orbital Cleft  752.86  S m a l l P e n i s with P o o r l y D e v e l o p e d C o r p o n a  745 48  V S D , Perimembranous  745 20  T e t r a l o g y o f Fallot  752 88  D i s t a l U r e t h r a l O b s t r u c t i o n S e c o n d a r y to P r o s t a t i c 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 1 3 S y n d r o m e  753 88  M a s s i v e Dilatation o f Bladder  753.20  Bilateral  753.29  Bilateral Hydroureter  Cavernosa  Hydronephrosis  524.0  Retrognathia  753 99  Congenital Obstructive  Uropathy  756.79  M a s s i v e D i s t e n t i o n o f A n t e r i o r A b d o m i n a l wall with M u s c u l a r A t r o p h y  524 0  Micrognathia  748 51  S e v e r e Pulmonary  761 2  Oligohydramnios S e q u e n c e  753.00  Medullary D y s p l a s i a of Kidneys, Bilateral  762.28  S m a l l A m n i o t i c C y s t in P l a c e n t a  Hypoplasia  159  Autopsy Findings  Appendix III Method o(TA  Amniotic EGA at Fluid  Narrow  Diagnosis:  Termination  Code:  13 + 1/2  740.02  Anencephaly w i t h . . .  13 * 1/2  759.11  Small Adrenals, Attenuated Fetal Cortex Imp: N T D & C H D P o s s i b l y d u e to M a t e r n a l I D D M  13 + 1/2 13 + 1/2  747.10  Preductal Coarctation of Aorta  745 48  V S D , Small  745.88  Polyvalvular Dysplasia (Tricuspid V a l v e and Pulmonary Valve)  741 90  Cervical Rachischisis  755.50  Bilateral 5th Finger Clinodactyly  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 Defect T h e h e a d i s s e v e r e l y d a m a g e d . N u c h a l c y s t i c h y g r o m a i s not a s s e s s a b l e .  754.73  Bilateral Club Feet  755.51  A b n . F l e x i o n o f F i n g e r s , Left H a n d  742.48  D e s t r u c t i o n o f C e l l s i n V e n t r i c u l a r z o n e 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  Migration Abnormality, Brain  20 * 1/2  Flattened N o s e  20- 1/2  743.32  C a t e r a c t u s F e t a l E y e - Right  20* 1/2  756.02  Hypertelorism  20* 1/2  759.7  Imp: M C A , U n k n o w n C a u s e  749.09  Cleft P a l a t e  759.11  Hypoplasia of Adrenals  751.49  Malrotation of B o w e l  752.86  Smalt P e n i s Hypospadius C o n t r a c t u r e s at the K n e e s  B r o a d N o s e with Flattened Deep N a s a l Bridge Low Set Posteriorly Rotated Ears Valvular C u s p Thickening & Shortening of Aortic Vatve Agenesis of Corpus Callosum 746.88  Ventriculr Hypertorphy  747.64  Retroesophageal  Right S u b c l a v i a n A r t e r y  745.50 ? H y p o p l a s i a o f F o r a m e n O v a l e 753.00  Renal Hypoplasia  228.1  Posterior Nuchal - Occipital Cystic Hygroma  778.5  Upper 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  756.08  Flattened Occiput  745.63  P a r t i a l (Incomplete) A V C a n a l  746 88  C a r d i o m e g a l y w i t h hypertrophy o f R A t r i u m a n d V e n t r i c l e  762.28  P l a c e n t a with E d e m a a n d Villus Dysmaturity  748.51  Lung Hypoplasia  758.00  Imp: D o w n ' s S y n d r o m e  778.5  Mild S u b c u t a n e o u s E d e m a  746.1  Hypoplasia of Tricuspid Vatve  746 oo  Atresia of Pulmonic Vatve  746.88  Hypoplasia o f R Ventricle  Imp: C o n g e n i t a l H e a r t D e f e c t  747.28 ? H y p o p l a s i a o f D u c t u s A r t e r i o s u s  20 (G.P.)  > 4 d a y s retention  20 (G.P.)  756.71  20 (G.P.)  762.8  G a s t r o s c h i si s Amnion Epithelium D i s p l a y s V a c u o l a t i o n (microscopic)  Germinal E m i n e n c e Hemorrhage, Bilateral, Brain, due to termination Villus 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  743.1  Disorganized Ocular Development  762 a  Imp: A m n i o t i c B a n d C o m p l e x  744 91  Craniofacial Dysmorphism, Severe  18* 1/2  742.48  Disorganized Brain  18 + 1/2  756.12  Kyphoscoliosis, Severe  743.1  Absent Globes  762.28  Absent Amnion, Placental Disc  751.62  Ectopic Liver  754.73  C l u b F o o t , Left  755.26  Radial Agenesis, L Arm  18 • 1/2  755.61  A m p u t a t i o n s 2 n d a n d 5th T o e s R F o o t  18* 1/2  762.8  Constriction Bands 2nd toe R Foot  18 * 1/2  744.01  Absent External E a r s  18 - 1/2  762 8  C o n s t r i c t i o n B a n d s 4th 4 5th F i n g e r s L H a n d  18 * 1/2  748.10  Absent N o s e  749.29  S e v e r e Clefting P a l a t e  160  Autopsy Findings  Appendix III Code No:  Method Amniotic EGA at ofTA  Fluid  Termination  Narrow  Diagnosis:  Code: 749.29  S e v e r e Clefting Lip  18 * 1/2  742.48  Cranial Defect with C e r e b r o v a s c u l o s a Formation  18 - 1/2  762.60  Short/Absent Umbilical C o r d  742.39  Hydrocephalus  742.48  Leptomeningeal  (cerebellar) A n o m a l y  N o Other Developmental Anomalies 754,73  Right C l u b b e d F o o t  756.08  M a l f o r m a t i o n o f S k u l l w i t h W i d e Flat C l i v i s  756 oa  A b s e n c e o f Cribriform Plate  743.67  A b n o r m a l Right Orbit  743.1  R u d i m e n t a r y 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  Hypoplastic Posterior F o s s a  754.73  Club Foot L S i d e  75588  Arthrogryposis  743.1  A b n . L E y e with A b s e n c e of G a n g l i o n Cells a n d Optic N e r v e H y p o p l a s i a  762 8  Imp: A m n i o t i c Rupture ( B a n d )  754.20  Thoracic Scoliosis  756.08  Cafvarium is Defective  748.10  Hypoplastic R Nostril  742.48  Distorted Cerebellum  742 4 2  Intracranial C y s t i c S t r u c t u r e  742.21  Corpus Caltosum Agenesis  748 1 8 742.48  Sequence  D e f e c t i v e N o s e w i t h T w o S e p a r a t e Trunk F o r m a t i o n L Frontal Lobe Herniation  Imp: M u l t i f a c t o r i a l N T D - A n e n c e p h a l u s 740.02  Anencephalus  753.29  Bilateral Hydroureters  759.11  Hypoplasia of Adrenal Glands  20 • 1/2  755.50  B i l a t e r a l 5th F i n g e r C l i n o d a c t y l y  20 + 1/2  757.2  Split S i m i a n C r e a s e , R H a n d  20 + 1/2  757.2  Simian Crease, L Hand  20 • 1/2  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 T h i c k e n i n g N o O t h e r D e v e l o p m e n t a l A b n o r m a l i t i e s in Intact P a r t s Slight N u c h a l T h i c k e n i n g . S e c t i o n t a k e n o f the n u c h a l s k i n s h o w s mild interstitial e d e m a in t h e s u b u t a n e o u s t i s s u e . T h e r e a r e n o d i l a t e d lymphatic c h a n n e l s in this s e c t i o n .  758 oo 755,50  Imp: D o w n ' s S y n d r o m e B i l a t e r a l 5th F i n g e r C l i n o d a c t y l y No Developmental Anomalies  759 89  Imp: V A T E R s y n d r o m e , T h r o m b o c y t o p e n i a A b s e n t R a d i u s s y n d r o m e , or H o l t - O r a m s y n d r o m e  755,25  L Radial Aplasia T e r m i n a t i o n a n d A u t o p s y p e r f o r m e d in S e a t t l e  745 48  24 (G P.)/23 dates  V S D , perimembranous  Skin Slippage Chest A n d Anns  24 (G.P.)/23 dates  Definite U r i n a r y B l a d d e r Identified  24 (G.P.)/23 dates  753.16  Cystic Dysplasia Both Kidneys  24 (G.P.)/23 dates  753.29  Narrowing o f the Pefviureteral Junction  24(G.P.)/23 dates  753.69  N a r r o w i n g & Inturruption o f P e n i l e U r e t h r a  24(G.P.)/23 dates  747,5  Single Umbilical Artery  553,1  Omphalocele P N D o f C P C not C o n f i r m e d D u e T o F r a g m e n t a t i o n  745 48 746,88  V S D , Perimembranous Polyvalvular Dysplasia  754,73  R Club Foot  524 o  Slight M i c r o g n a t h i a  758 30  Imp: T r i s o m y 18 S y n d r o m e  758 10  Imp: T r i s o m y 13 S y n d r o m e  74548  V S D , Perimembranous No Other Developmental Anomalies  745.4B  V S D , Perimembranous  755.50  B i l a t e r a l 5th F i n g e r C l i n o d a c t y l y , H y p o p l a s i a o f m i d p h a l a n x  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  B i l a t e r a l 5th F i n g e r C l i n o d a c t y l y N o Other Developmental Anomalies  N o Other Developmental Abnormalities  Autopsy Findings  Appendix III Code  Method TA  Amniotic EGAal Fluid  Narrow  Termination  Code;  Diagnosis:  2  1  19 + 4  755.50  Mild B i l a t e r a l 5 t h F i n g e r C l i n o d a c t y l y  2  1  19 * 4  758.02  Imp: 4 6 , X X , - 2 1 , + d e r ( 2 1 ) , t ( 2 1 : ? )  2  1  25  2  1  25  741.98  Lumbosacral Myelocele  758.00  Imp: D o w n ' s S y n d r o m e  1  16  1  1  16  2  1  20-21  2  1  20-21 GP. 22 Dates  2  1  2 2  2 2  Imp: M u l t i f a c t o r i a l N T D  N o D e v e l o p m e n t a l A n o m a l i e s i n Intact P a r t s  756.61  Diaphragmatic Hernia  20-21 GP. 22 Dates  740.02  Anencephaly  1  20-21 GP. 22 Dates  748.51  Hypoplasia of Lungs  1  20-21 GP, 22 Dates  759.11  Hypoplasia of Adrenals  1  15  758.58  1  15  2  1  13  762.7  P l a c e n t a l with C h o r i o a m n i o n i t i s  2  1  13  746.5  D y s p l a s i a of Mitral V a l v e  2  1  13  755.50  B i l a t e r a l 5th F i n g e r C l i n o d a c t y l y  2  1  13  748.51  Pulmonary Hypoplasia  2  1  13  745 48  V S D , Large Subaortic  2  1  13  759.24  Thymic Hypoplasia  1  13  762.28  Placenta with Scattered Mineralization  1  13  745,11  D o u b l e Outlet R V e n t r i c l e  1  13  745,88  A b s e n c e o f Leaflet T i s s u e s , P u l m o n i c V a l v e s a n d A o r t i c V a t v e s  1  13  747.10  Preductal Coarctation of Aorta  1  13  746.1  Dysplasia of Tricuspid Valve  1  13  747,5  2 V e s s e l Umbilical C o r d  1  13  755,50  Bilateral 5th Finger Clinodactyly  1  13  228.1  Cystic Hygroma  1  13  758.00/75 Imp: F e a t u r e s C o n s i s t e n t w i t h T 2 1 o r D i G e o r g e s  1  18 + 1/2  754,73  1  18+1/2  755.50  Bilateral 5th Finger Clinodactyly, with mid phalanx hypoplasia  1  18+1/2  745.48  V S D , perimembranous  1  18+1/2  751.01  M e c k e l ' s Diverticulum  1  18*1/2  1  18 + 1/2  751,40  M a l r o t a t i o n o f S m a l l B o w e l w i t h C e a c u m a t t a c h e d to the Ant. A b d . W a l l  1  18+1/2  748.58  Incomplete F i s s u r e Formation, Both Lungs  1  18+1/2  746.4  Bicuspid Aortic Valve  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 r a n s l o c a t i o n - 4 6 , X X , - 2 1 , +der(18), t ( 1 8 ; 2 1 )  1  13 + 2  746,5  Nodular D y s p l a s i a Mitral V a l v e  1  13 + 2  755.51  Abnormal Hand Position  1  13 + 2  746.1  Nodular Dysplasia Trucuspid Valve  1  19 + 2  755.50  B i l a t e r a l 5th F i n g e r C l i n o d a c t y l y  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  Imp: M u l t i f a c t o r i a l N T D  Imp: 4 6 , X X , r e c ( 1 8 ) , dup, p i n v ( 1 8 ) ( p 1 1 . 2 ; q 2 3 ) m a t N o D e v e l o p m e n t a l A n o m a l i e s Identified  Syndrome  Bilateral Club Feet  Imp: D o w n ' s S y n d r o m e  2  1  17-18  742.48  Twin A Cerebellar Malformation  2  1  17-18  759.08  Twin B Abnormal Lobation of Spleen  2  1  17-18  742.58  T w i n A P e r i v e n t r i c u l a r L e u k o m a l a c i a with C a l c i f i c a t i o n  2  1  17-18  742.88  Twin A Absent Optic 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 R o d u m e n t a r y G l o b e D e v e l o p m e n t  2  1  17-18  756.08  T w i n 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 A b s e n t Philtrum  2  1  17-18  750.28  Twin B Small Mouth  2  1  17-18  749,09  T w i n B W i d e l y Cleft P a l a t e  2  1  17-18  744.23  Twin B Dysmorphic Ears  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  Twin B Hypoplastic Kidneys  2  1  17-18  753.29  Twin B Hydroureters  2  1  17-18  762.7  T w i n A A m n i o t i c Infection  2  1  17-18  759.11  Twin B Bilateral Adrenal Hypoplasia  2  1  17-18  742.26  Twin A Semilobar  2  1  17-18  741.98  Twin B Lumbosacral Meningomyelocele  2  1  17-18  756.18  Twin B L 5 Vertebral Dysraphism  2  1  17-18  742.1  Twin B Microcephaly  2  1  17-18  742.26  Twin B Alobar Holoprosencephaly  2  1  17-18  742,58  Twin B Periventricular Leukomalacia  2  1  17-18  742.48  Twin B Cerebellar Malformation - Hypoplasia of Vermis and Displacement o f Hemispheres  2  1  17-18  742.28  T w i n B A b s e n t Pituitary  2  1  17-18  742.88  Twin B Absent Olfactory N e r v e s  2  1  17-18  742,88  Twin B Absent Optic Nerves  2  1  17-18  742.88  Twin B Absent corticofungal Tracts  Syndrome  Holoprosencephaly  Autopsy Findings  Appendix III Code  Method  Amniotic EGA at  Diagnosis:  Code:  1  17 18  762.7  17 18  753 99 ? T w i n B T h i n U r o r e c t a l S e p t u m  2  1 1  17 18  748.58  2  1  17 18  753.99 ? T w i n A T h i n U r o r e c t a 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 T r u e S i n g l e G l o b e  2  1  17 18  743.63  Twin A Notched Lower Lid  2  1  17 18  742.88  Twin A Absent Optic Nerve  17 18  743.51  Twin A Retinal Dysplasia  17 18  756.08  T w i n A P r o b o s c i s A b o v e Orbit  17 18  750 28  T w i n A A b s e n t PhiRrum  17 18  750 28  Twin A Small Mouth  17 18  749 09  T w i n A W i d e l y Cleft P a l a t e  17 18  744.23  Twin A Dysmorphic Ears  17 18  757 2  Twin A Abnormal Palmar C r e a s e  17 18  754.73  Twin A Bilateral Club Feet  2 2  Fluid  Narrow  Terrni nation  f TA  2  1 1 1  2  1  2 2  T w i n B A m n i o t i c Infection S y n d r o m e  Twin B Bilateral Unilobate Lungs  2  1 1 1 1  2  1  17 18  553.1  Twin A Small Omphalocele  2  1  17 18  762.20  Twin A Chorangioma, Small  2  1  17 18  751.58  Twin A Anteriorly P l a c e d A n u s  2  1  17 18  742.48  Twin A F u s i o n of Thalmi  2  1  17 18  753.29  Twin A Hydroureters  2  1  17 18  752.38  Twin A Bicomuate Uterus  2  1  17 18  748.58  Twin A Bilateral Abnormal Lung Lobation  2  1  17 18  759.11  Twin A Bilateral Adrenal Hypoplasia  2  1  17 18  742.28  Twin A Absent  2  1  17 18  745.20  T w i n A T e t r a l o g y o f Fallot  2  1  17 18  746.08  Twin A Bicuspid Pulmonic Valve  2  1  17 18  746.6  Twin A Dysplastic Mitral V a l v e  2  1  17 18  746.1  Twin A Dysplastic Tricuspid Valve  2  1  17 18  746.4  Twin A Dysplastic Arotic Vatve  2  1  17 18  742.1  Twin A Microcephaly  2  1  17 18  758.58  Imp: T w i n s : 4 6 , X X , der(7), t ( 3 ; 7 ) ( q 2 7 ; q 3 6 ) mat  2  1  17 18  753.00  Twin A Hypoplastic Kidneys  2  1  17 18  757.2  Twin B Abnormal Palmar C r e a s e  2  1  19 20 Wks  754.88  Narrow Chest, Short R i b s  2  1  19 20 wks  754.4  Bowing of Long B o n e s  2  1  19 20 wks  755.67  Short B r o a d Pelvis  2  1  19 20 wks  756.18  Flattening o f V e r t e b r a l B o d i e s with C e n t r a l A n t e r i o r S p i k e s  2  1  19 20 wks  754 88  Focal Metaphyseal Spikes on Long Bones  2  1  15 20 wks  754.88  C h a r a c t e r i s t i c H i s t o l o g i c A b n o r m a l i t y o f R i b , Iliac C r e s t a n d F e m u r  2  1  19 20 wks  748.51  Lung Hypoplasia  2  1  19 20 wks  742.48  R a d i a l l y O r i e n t a t e d G y r i , Inferior T e m p o r a l  2  1  19 20 wks  742.48  A b n o r m a l F o r m a t i o n o f the  2  1  19 20 wks  759.04  T w o Small A c c e s s o r y Spleens  2  1  19 20 wks  753.70  Patent Urachal Remnants  2  1  19 20 wks  755.88  S e v e r e Symmetrical Shortening, Rhizomelic and Mesomelic, Upper  1  1  13  6  753.18  Microcystic C h a n g e s in Kidney  1  1  13  6  762 28  F i b r o s i s a n d E d e m a o f P l a c e n t a l Villi  1  1  13  6  1  1  13  6  2  1  2  1  2  2 2 2  Pituitary  Lobes  Hippocampus  P N D o f C y s t i c H y g r o m a not C o n f i r m e d D u e to F r a g m e n t a t i o n 758.10  Imp: T r i s o m y 1 3 S y n d r o m e  15  511.9  Pleural Effusion  16  758.60  Imp: T u r n e r ' s S y n d r o m e  1  16  778.0  Fetal Hydrops  2  1  16  778.0  Ascites  2  1  16  748 51  Pulmonary  2  1  16  747.21  A o r t i c A r c h a n d Isthmus H y p o p l a s i a  2  1  16  746.1  Tricuspid Valve Dysplasia  2  1  16  753.20  L  2  1  16  228.1  Cystic Hygroma, Nuchal  2  1  22  2  1  22  759.11  Adrenal Hypoplasia  2  1  22  2  1  22  740.02  Anencephaly  2  1  25  740.02  Both Twins Anencephalic  2  1  25  751.62  B o t h 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 i n the L i v e r  2  1  25  742.48  Both Twins Aspiration o f Cerebral T i s s u e s in Bronchi and Alveoli  2  1  25  759.11  Both Twins Bilateral Adrenal Hypoplasia  2  1  25  ?  B o t h T w i n s Multiple S u b p l e u r a l (?) P e t e c h i a l H e m o r r h a g e s  2  1  18  511.9  Bilateral Pleural  2  1  18  757.8  Multiple P t e r y g i a - N e c k , A n t e c u b i t a l , Axillary, Inguinal  2  1  18  749.07  Cleft Soft P a l a t e  2  1  18  228 1  Circumferential C e r v i c a l C y s t i c Hygroma  2  1  18  755.50  A b n o r m a l H a n d P o s t u r e w i t h T h u m b T e t h e r e d to P a l m  2  1  18  755 62  Fixed Dorsiflexion of Ankles  Hypoplasia  Hydronephrosis  Imp: Multifactorial N T D  No Recognizable C N S Tissue is Noted  Effusions  Autopsy Findings  Appendix III Code No:  Method Amniotic EGA at  Narrow  Diagnosis:  Termination  Code:  1  18  755.64  F i x e d H y p e r t e n s i o n at K n e e s  1  18  762.60  Short Umbilical C o r d  2  1  18  748.51  S e v e r e Lung Hypoplasia  2  1  18  753.00  Mild R e n a l Hypoplasia  2  1  18  742.48  B r a i n Infarction, C o r t e x , B i l a t e r a l  2  1  18  742.25  Focal Polymicrogyria  2  1  18  764.9  2  1  18  759.89  Imp: C o n s i s t e n t with Multiple P t e r y g i u m  2  1  18  756.12  Thoraco-Lumbar Kyphosis  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  2  1  20  2  1  20  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 w i t h U l c e r a t e d Soft T i s s u e C y s t O v e r S a c r u m  1  1  14  754.88  Symmetrical Short Limbs  1  1  14  1  1  14  756.34  Beaded Ribs  1  1  14  733.1  Multiple F r a c t u r e s Involving L o n g B o n e s  1  1  14  755.88  Osteopenia Long Bones  1  1  14  756.08  Osteopenia Calvaria  1  1  14  756.50  Abnormal Type 1 Procollagen Synthesis  of TA  Fluid  2 2  IUGR Syndromes  38349 No Other Developmental Anomalies Imp: M u l t i f a c t o r i a l N T D  38356  P N D o f H y d r o c e p h a l u s not c o n f i r m e d d u e t o  fragmentation  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  Trophoblast  1  1  18  762.28  P l a c e n t a w i t h F o c a l Villus E d e m a a n d S c l e r o s i s  1  1  18  757.2  Bilateral S i m i a n C r e a s e s  1  1  18  755.50  Bilateral 5th Finger Clinodactyly  1  1  18  1  1  18  757.2  1  1  18  758.00  Imp: D o w n ' s S y n d r o m e  1  1  18  755.50  Mild Bilateral 5th Finger Clinodactyly  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  Subcutaneous Edema, Moderate, Hands and Feet  1  1  16  771.29  1  1  16  1  2  16 + 3  1  2  16+3  1  1  16  1  1  19  758.61  Imp: M o s a i c T u r n e r s S y n d r o m e  2  1  17  753.00  H y p o p l a s t i c K i d n e y s , Bilaterally  2  1  17  752.38  R  2  1  17  752.48  Ambiguous External Genitalia  2  1  17  756.16  Vertebral Anomalies L 2 - 4  2  1  17  756.30  11 R i b s , R S i d e  2  1  17  755.50  Bilateral 5th Finger Clinodactyly'  2  1  17  755.24  A b s e n t T h u m b s , Bilaterally  ' 2  1  17  750.12  Large Tongue  2  1  17  744.23  Dysplastic Ears  2  1  17  744.91  Upslanting Palpebral  2  1  17  749.22  M e d i a n Cleft P a l a t e  749.22  M e d i a n Cleft L i p  Irregularity  38374 No Other Developmental Anomalies in Parts Available For Examination Simian Crease, L Hand  38380  Imp: L i k e l y P a r o v i r u s Infection No Developmental Anomalies  38291 758.61  Imp: M o s a i c T u r n e r ' s S y n d r o m e No Developmental Abnormalities  38506 No Developmental Abnormalities  28522  Hemiuterus  Fissures  2  1  17  2  1  17  2  1  17  758.19  2  1  17  742 08  Probable Encephalocele, Posterior Parietal  2  1  17  747.21  Aortic Arch Hypoplasia, Preductal  1  17  747 41  Persistent L Superior Vena C a v a  2  1  16- 18 G.P 26 Dates  756 08  N o n o s s i f i e d Skull  2  1  16 - 18 G P 26 Dates  754.88  Shortened Long Bones  2  1  16- 18 G P 26 Dates  778.0  Hydrops Fetalis  2  1  16- 18 G.P 26 Dates  748.51  Pulmonary Hypoplasia  2  1  16- 18GP 26 Dates  742.39  Possible  2  1  16- 18 G.P 26 Dates  755 34  L F o o t , 1st t o e a m p u t a t i o n  S m a l l Cleft Soft P a l a t e  2  Brain T i s s u e Lost Through Defect Imp: 4 6 , X X , - 1 3 , + ring  38524  Hydrocephalus  38550 2  1  15+5  749.07  2  1  15+5  757.31  R Thumb is R e p r e s e n t e d by a Skin T a g  2  1  15+5  747.21  Mild Tubular H y p o p l a s i a of the Preductal A o r t a  2  1  15 + 5  747.5  Single Umbilical Artery  2  1  15*5  750.32  Tracheoesophageal Fistula  2  1  15 + 5  753.00  Bilateral R e n a l Aplasia  2  1  15 + 5  745.48  Small Perimembranous V S D  2  1  15 * 5  758.20  Imp: T r i s o m y 1 8 S y n d r o m e  2  1  15 + 5  744.88  Nuchal Thickening  164  Autopsy Findings  Appendix III Method of TA  Amniotic EGA at Fluid  Termination  Narrow  Diagnosis:  Code: 746.88  Cardiac Valvular Dysplasia  22-23  Imp: M u l t i f a c t o r i a l N T D  22-23  L u m b o s a c r a l S p i n a Bifida C o n f i r m e d  22-23  P N D o f Arnold Chiari Malformation Not Confirmed Due T o Fragmentation  Imp: M u l t i f a c t o r i a l N T D Meningocele, Lower Thoracic and Upper Lumbar No Other Developmental Abnormalities  Imp: T u r n e r ' s S y n d r o m e Generalized Subcutaneous Edema T h e c r a n i a l vault i s d a m a g e d a n d t h e n e c k i s not identified t h e r e f o r e the c y s t i c h y g r o m a c a n n o t b e c o n f i r m e d .  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 Craniofacial Dysmorphism, Mild  Imp: M u l t i f a c t o r i a l N T D 741,80  Spinal Rachischisis  748.51  Pulmonary Hypoplasia  753,32  H o r s e s h o e Kidney  751.01  Meckel's Diverticulum  747,5  Single Umbilical Artery  740.02  Anencephaly w i t h . . .  759.11  Adrenal Hypoplasia  No Developmental Anomalies in Parts Available F o r Examination Imp: T u r n e r ' s S y n d r o m e - 4 5 , X  Pulmonary Artery Hypoplasia Slight I U G R Pulmonary V a l v e Atresia R V e n t r i c u l a r Dilatation R Atrium D i l a t a t i o n A S D , Secundum Type 744.88  1  Posterior Nuchal Edema  757.2  R Simian C r e a s e  758.00  Imp: D o w n ' s S y n d r o m e  755.50  B i l a t e r a l 5th F i n g e r C l i n o d a c t y l y  P u l m o n a r y V a l v e D y s p l a s i a , (no natural p a t h w a y ) P N D o f G a s t r o s c h i s i s not C o n f i r m e d D u e to 759.7  Imp: M C A  748.58  Pulmonary Atresia of R Lung  Fragmentation  Encephalocele, vertex of cranium Significantly i n c r e a s e d Acetyl C h o l i n e s t e r a s e & A F Alpha Fetoprotein 762.28  Placenta Extrachorialis  762.60  P a r t i a l l y T e t h e r e d , focally e d e m a t o u s , s h o r t u m b i l i c a l c o r d  752.48  L a b i a l Cleft  746.88  Serosal Hemorrhages,  762.8  Imp: A m n i o n R u p t u r e S e q u e n c e  759.24  Serosal Hemorrhages,  753.88  Distended Bladder  Epicardium  Thymus  Minimal S c o l i o s i s O m p h a l o c e l e , c o n t a i n i n g L i v e r , S m a l l Intestine & R c o l o n 762.28  Placenta with Amniotic Bands  754.00  Asymmetrical Facies  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 & F e e t Imp: T u r n e r ' s S y n d r o m e - 4 5 , X M i l d Axillary P t e r y g i a , B i l a t e r a l Hepatosplenomegaly Mild Choroamnionitis Incomplete Horizontal F i s s u r e Formation of R Lung Aortic Preductal Tubular H y p o p l a s i a  Imp: M u l t i f a c t o r i a l N T D N o Developmental A n o m a l i e s in parts available for examination P N D of Lumbar Meningocele Not Confirmed D u e T o Fragmentation P N D o f V e n t r i c u l o m e g a l y a n d p o s s i b l e A r n o l d C h i a r i M a f f n not C o n f i r m e d D u e to F r a g m e n t a t i o n  754.01  Potters F a c i e s  753.69  Distal Urethral S t e n o s i s  753.88 ? M e g a c y s t i s 753.29 788.5 754.73  Hydroureternephrosis Oligouria Bilateral Club Feet 4 - 7 d a y s r e t e n t i o n following I U D  165  Autopsy Findings  Appendix III Method ofTA  Amniotic EGA at Fluid  Termination  Narrow  Diagnosis:  Code: Pulmonary Hypoplasia  S *3  749.22  Club Feet  5* 3  753.16  Small C y s t i c Structure Resembling a Kidney  5* 3  747.5  Single Umbilical Artery  5* 3  751.23  Vesicorectal Fistula  5* 3  757.8  Cubital + Popliteal Pterygia  5* 3  751.23  Imperforate A n u s  5*3  749.22  Cleft P a l a t e  5* 3  759.7  Imp: M C A , c a n n o t b e s u r e o f particular s y n d r o m e - A . R . I n h e r i t a n c e  8  758.20  Imp: T r i s o m y 1 8 S y n d r o m e  B  754.00  Dysmorphic F a c e with Small Mandible  B  759.04  Accessory Spleen  6  746.88  Polyvavular Dysplasia of Tricuspid and Aortic V a l v e s  8  744.00  A b n o r m a l E a r s with A t r e t i c E a r C a n a l s  8  754.73  Bilateral Club Feet  8  742.42  Bilateral C h o r o i d Plexus C y s t s  8  747.41  Persistent L V e n a C a v a  8  755.50  Bilateral 5th Finger Clinodactyly  8  746.02  Bicuspid Pulmonary Valve  6  745.49  VSD  8  756.18  Hemivertebrae, Throacic  8  756.30  11 R i b s  8  756.61  L Diaphragmatic H e m i a  8  757.2  Simian C r e a s e R Hand  8 +3  747.19  Coarctation of Aorta  8 +3  758.10  Imp: T r i s o m y 1 3 S y n d r o m e  8 +3  749.21  B i l a t e r a l Cleft P a l a t e  8* 3  755.00  Postaxial Polydactyly, L Hand  8*3  749.21  B i l a t e r a l Cleft L i p  8* 3  751.64  Distended Gallbladder  8* 3  746.4  Unicuspid Aortic Valve  8• 3  745.48  V S D , Perimembranous  8+3  755.00  Hexadactyty, R H a n d  2- 13 wks, 79 days  758.00  Imp: D o w n ' s  2- 13 wks. 79 days  Syndrome  Scant Fetal Tissues  Identified  6  759.19  Discoid Adrenal Glands  6  753.88  Hypoplastic Bladder  6  748.18  Flattened  :6  605  Phimosis  762.28  Multiple F o c i o f V i l l u s C o n g e s t i o n  Nose  744.24  L o w Set Posteriorly Rotated  754.01  Wizened Face  759.24  Multiple S e r o s a l P e t e c h i a e O v e r E p i c a r d i u m o f T h y m u s  754.01  Potter's F a c i e s  753.00  Bilateral R e n a l A g e n e s i s  759.04  Accessory Spleen X 2  743.63  Ears  Prominent Epicanthal Folds  Preaxial Polydactyly - R Hand N o Intact Internal O r g a n s F o u n d Imp: T r i s o m y 1 3 S y n d r o m e  1 D a y R e t e n t i o n following I U D Blood Tinged Peritoneal  Effusions  B l o o d T i n g e d P l e u r a l Effusions 764.9  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  762.20  S m a l l M a r g i n a l Villus Infarct  762.28  Small Placental Disk  760,0  Retardation  Imp: Attributable to G e s t a t i o n a l H y p e r t e n s i o n or H E L L P S y n d r o m e & C P M T r i s o m y 1 8 Terminally A s s o c i a t e d Multifocal P e t e c h i a l H e m o r r h a g e s , C e r e b r u m , Brainstem, Cerebellum B l o o d T i n g e d P e r i c a r d i a l Effusions  753,29  Bilateral Hydroureter  753.88  Dilatation of Bladder  753.16  Bilateral Cystic Kidneys  752.52  Cryptoorchidism  756.79  Attenuation of Abdominal Musculature  756.72  Imp: P r u n e Belly S y n d r o m e or U r e t h r a l O b s t r u c t i o n w i t h P o s t e r i o r U r e t h r a l V a l v e s  753.69  P o s s i b l e Urethral Obstruction  756.79  D e f i c i e n t Inferior A b d o m i n a l W a l l  75123  Anal Atresia  762.68  Dilated Umbilical Ring  752.68  Absent External Genitalia  166  Appendix III Method of TA  Autopsy Findings Amniotic EGA at Fluid  Termination  Narrow  Diagnosis:  Code: C o l o v e s i c l e Fistula Internal P h a l l i c S t r u c t u r e Segmentation Abnormalites involving L 3 a n d L 4 vertebrae Urethral A t r e s i a 753,29  Hydroureter R side  756.71  Imp: U r e t h r a l O b s t r u c t i o n S e q u e n c e ( P r u n e B e l l y S e q u e n c e )  747.0  Large Ductus Arteriosus  753,32  Horseshoe Kidney  753.29  R Sided  21 • 1/2  759.11  Adrenal Hypoplasia  21 • 1/2  756.08  M a r k e d Frontal Blossing  746,3  Bicuspid Asymmetric Aortic Vatve  756.08  Deep N a s a l Bridge  21 * 1/2  750.27  Puckered Lips  21 * 1/2  746.88  L a r g e D i l a t e d R Atrium  747.10  Preductal Narrowing o f the Aortic A r c h  Hydrouretemephrosis  748.51  Pulmonary Hypoplasia  789.5  Abdominal Ascites  511.9  Bilateral Pleural Effusions  776.5  Generalized Edema Bilateral C y s t i c Hygroma Imp: T u r n e r ' s S y n d r o m e Deep Palpebral  Fissures  Retention for a n unknown number o f days 744,24  Low Set Ears  745.51  Large A S D , Secundum  764,9  Marked IUGR  762.28  Small, Noncystic Placenta  748.18  Beak-Like Nose  758.58  Imp: Triploidy  756.08  Relative Head Sparing  749.09  P o s t e r i o r Cleft P a l a t e  524 0  Micrognathia  20-21  755,oo  3/4 S y n d a c t y l y L H a n d  20-21  755.19  2 / 3 S y n d a c t y l y , F e e t , Bilaterally  759.11  Adrenal Hypoplasia  20-21  748.51  Pulmonary Hypoplasia  20-21  744.24  Low Set Ears  757.2  R Sidney Crease, R Hand N o D e v e l o p m e n t a l A b n o r m a l i t i e s i n Intact P a r t s  758.00  Imp: D o w n ' s S y n d r o m e  P N D o f H y d r o p s not c o n f i r m e d d u e to f r a g m e n t a t i o n P N D o f C y s t i c H y g r o m a not c o n f i r m e d d u e to 762.28  fragmentation  Immature P l a c e n t a l T i s s u e  778,5  Subcutaneous Edema  758,60  Imp: T u r n e r ' s S y n d r o m e P N D o f V e n t r i c u l o m e g a l y not c o n f i r m e d d u e to f r a g m e n t a t i o n  755.34  Aplasia Great T o e s  756 16  Hemivertebrae  742.26  Semilobar  L2/3  Holoprosencephaly  748 69  L Lung Isomerism  751 72  Annular P a n c r e a s  759.04  Small A c c e s s o r y Spleens, (2 small spleens)  745 51  A S D , Secundum Type  747 21  Aortic Hypoplasia  74548  V S D , Perimembranous  755 50  A p l a s i a 5 t h R a y Bilaterally H a n d s  751,24  Anal Atresia  756 15  T4/5 Fusion  755.50  Short Terminal P h a l a n g e s  755 24  Aplasia Thumbs  748.18  Flat N a s a l B r i d g e  749.09  P o s t e r i o r Cleft P a l a t e  758 58  Imp: 4 6 , X X , - 1 3 , + d e r ( 1 3 ) . t ( 1 2 ; 1 3 )  753 oo  Renal Hypoplasia  746.1  Dysplastic Tricuspid Valve  No Other Developmental Abnormalities  755.50  Bilateral 5th Finger Clinodactyly  756,00  Imp; D o w n ' s S y n d r o m e - 4 7 , X Y , + 21  744.68  Minimal Nuchal Thickening  * 6G.P.. 19 dates  746.6  E n d o c a r d i a l DiverticuD o f Mitral V a l v e s  + 6G.P., 19 dates  745.63  Form Fruste of A V Canal  167  Autopsy Findings  Appendix III Amniotic EGA at Fluid  Narrow  Diagnosis:  Termination  Code:  15 - 6 G . P . . 19 dates  755.19  Syndactyly o f 3rd & 4th Fingers, R H a n d  1 5 * 6 G P . . 19dates  758.58  Imp: T r i p l o i d y  1 5 * 6 G P . . 19 dates  747.26  D extra r o t a t i o n 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 Diverticuli o f T r i c u s p i d V a l v e s  1 5 * 6 G . P . , 19 dates  759.11  Adrenal Hypoplasia  15 + 6 G . P . . 1 9 dates  745.48  V S D , small perimembranous  23 * 1/2  755.20  A b s e n c e of Upper Limbs  23 * 1/2  Selective Termination by Cord O c c l u s i o n  23 + 1/2  R e t e n t i o n for 4 + 1/2 w e e k s  23 + 1/2  754 4i  Short C u r v e d Tibia  23+ 1/2  762 30  Chorangiopagus Parasiticus Twinning Anomaly  23 * 1/2  762.30  Imp: T R A P - T w i n R e v e r s e d A r t e r i a l P e r f u s i o n S e q u e n c e  23 + 1/2  755 34  A b n F e e t w i t h 3 A b n o r m a l D i g i t s , 2 o f w h i c h a p p e a r long a n d n a r r o w a n d 1 b r o a d e n e d a n d p e r h a p s f u s e d  746.88  Pulmonary Valve Dysplasia  758.20  Imp: T r i s o m y 1 8 S y n d r o m e  755.50  Right 4th Finger Clinodactyly  745 48  V S D , Perimembranous  755.50  B i l a t e r a l 5th F i n g e r C l i n o d a c t y l y  748.51  Pulmonary Hypoplasia  762.8  Amnium Nodusum  754.59  E q u i n o v a r u s Deformity - L Foot  524.0  Micrognathia - Oligohydramnios 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 of Ureter  753,16  Cystic Dysplasia R Kidney  753 o i  Probable Agenesis of L Kidney  753 38  Pelvic Malposition R Kidney  N o D e v e l o p m e n t a l A b n o r m a l i t i e s i n Intact P a r t s 758 58  Imp: C P M , T r i s o m y 1 8  758 oo  Imp: D o w n ' s S y n d r o m e  755 50  Bilateral 5th Finger Clinodactyly  P N D o f C y s t i c H y g r o m a not Identified D u e to F r a g m e n t a t i o n  2  1  19(G.P). 21 (dates)  757,2  Probably Bilateral S i m i a n C r e a s e  2  1  19{G.P), 21 (dates)  753.32  Horseshoe Kidney  2  1  19 (G.P.), 21 (dates)  748.58  Shallow L e s s e r F i s s u r e R a n d Absent Greater Fissure L Lung  2  1  19 (GP.}, 21 (dates)  754.73  Club Feet  2  1  19 (G.P.), 21 (dates)  759.08  Small Spleen  2  1  19 (G.P.). 21 (dates)  751.49  Malrotation of Intestines  2  1  19(G.P.). 21 (dates)  748.51  Hypoplasia of Lungs  2  1  19 (G.P.). 21 (dates)  740.02  Anencephaly  2  1  19 (G.P.), 21 (dates)  759.11  Hypoplasia of Adrenals  2  4  22  748.51  Hypoplasia of Lungs  2  4  22  753.40  Ureter Agenesis  2  4  22  753.80  Bladder Agenesis  2  4  22  753.00  Bilateral R e n a l A g e n e s i s  2  4  22  754.82  Thoracic Hypoplasia  2  4  22  759,24  Early involution and C o n g e s t i o n of Thymus  2  4  22  762,28  Immature p l a c e n t a w i t h M i l d F u n i s i t i s  2  4  22  2  4  22  762.28  2  4  22  754.4  Bowing of Long Extremities  2  4  22  757.8  Mild Pterygia of Upper Extremities  2  4  22  754.50  Bilateral Talipes Equinovarus  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  Bicuspid Aortic Valve  2  17-4  747,41  Persistent L Superior Vena C a v a  2  17*4  753,32  Horseshoe Kidney  2  17 + 4  758.60  2  17 + 4  34  16 + 5  752.48  Bifid G e n i t a l i a  34  16 + 5  746.1  Dysplastic Tricuspid Valves  34  16 + 5  754,73  Bilateral Club Feet  34  16 + 5  751.24  Anal Atresia  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  Abnormal Vertebral Column  1  16 + 1/2  744.88  Flat F a c i e s  1  16 + 1/2  749,09  P o s t e r i o r Cleft  2  t  16 + 1/2  748.51  Small Lungs  2  1  16 * 1/2  228.1  Cystic Hygroma  Stomach Present and Normal Focal Decidual Necrosis  Imp: T u r n e r ' s  Syndrome  N o c y s t i c h y g r o m a i s i d e n t i f i e d ( P N D not c o n f i r m e d )  Palate  168  Appendix III  Autopsy Findings  MetTiod Amniotic EGA at of TA  Fluid  Narrow  Diagnosis:  Termination  Code;  16* 1/3  778.0  16 * 1/2  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  Fetal Hydrops  Bicuspid Pulmonary V a l v e  756.18  Hemivertebrae  753.40  Absent Ureters  752.45  Large Clitoris  751 10  Duodenal Atresia  758.19  Imp: R i n g 1 3 S y n d r o m e  748.58  Abnormal Lung Development  753 oo  Hypoplastic Kidneys  751.24  Imperforate A n u s  755.19  Syndactyly Toes and Metacarples  755.24  Absent R Thumb & Hypoplastic L Thumb  740.02  Anencephaly (Merocrania)  758.58  Imp: C o n f i n e d P l a c e n t a l M o s a i c i s m N o Developmental Abnormalities P N D o f V e n t r i c u l o m e g a l y not c o n f i r m e d d u e to F r a g m e n t a t i o n  758.20  Imp: T r i s o m y 1 8 S y n d r o m e N o Developmental Abnormalities P N D o f A b d . W a l l D e f e c t not c o n f i r m e d d u e to F r a g m e n t a t i o n  746 7 746 7  Imp: H y p o p l a s t i c L H e a r t S y n d r o m e H y p o p l a s t i c Left H e a r t N o other developmental  740.02  abnormalities  F r a g m e n t e d skull s u g g e s t i v e o f A n e n c e p h a l y N o other developmental  abnormalities  Imp: Incomplete E x a m ( D o n e i n S e a t t l e ) 755.34  A b s e n c e of R Great T o e  755.38  Congenital A b s e n c e of R Tibia  755.34  A b s e n c e o f R 1st M e t a t a r s a l  740.02  Anencephaly (Merocrania)  759.11  Adrenal Hypoplasia  Imp: M u l t i f a c t o r i a l N T D  39109  4  19(G.P.). 26 (dates)  755.50  Clinodactyly of 5th Finger of L H a n d  4  19(G.P.). 26 (dates)  759.24  Hypoplasia of Thymus  4  19(G.P). 26 (dates)  747.5  2 Vessel Cord  4  19 (G.P.). 26 (dates)  789.9  Retention C y s t Lined by S q u a m o u s Epithelium, L o c a t e d between posterior uterine wall a n d rectum  4  19{G.P.).26 (dates)  742.20  A s y m m e t r y o f Cerebral H e m i s p h e r e s with Failure of Development of D e e p Cerebral nuclei  4  19 {G.P.J. 26 (dates)  748.51  Hypoplasia of Lungs  4  19(G.P.}, 26 (dates)  764.9  Severe IUGR  4  19 {G.P.J, 26 (dates)  753.20  Hydronephrosis L Side  4  19{G.P.), 26 (dates)  753.29  Hydroureter L Side  4  19 (G.P.J. 26 (dates)  754.70  Bilateral Club Feet  4  19 {G.P.J. 26 (dates)  758.58  Imp: T r i p l o i d y  4  19 {G.P.J. 26 (dates)  755.19  S y n d a c t y l y btwn 3 r d + 4th F i n g e r s , B i l a t e r a l l y  4  19{G.P.J. 26 (dates)  756.08  Relative Macrocephaly  4  19 {G.P.J. 26 (dates)  524.0  Micrognathia  4  19 (G.P.). 26 (dates)  759.11  Hypoplasia of Adrenal  4  19 (G.P.). 26 (dates)  753.00  Hypoplasia of Kidneys  4  19(G.P.J. 26 (dates)  745.49  VSD  19  758.00  Imp: D o w n ' s S y n d r o m e  19  756.08  Flat N a s a l B r i d g e  19  756 08  Flat O c c i p u t  19  753.00  Renal Hypoplasia  19  748.51  Pulmonary Hypoplasia  19  745.63  A V C a n a l Defect  19  755.50  Bilateral 5th Finger Clinodactyly  19  755.25  Shortening of Upper Limbs  15* 1/2 (17 dates}  753.00  Hypoplasia of Kidney  15+ 1/2 (17 dates)  751.62  Hypoplasia of Liver  15+ 1/2 (17 dates)  748.51  S e v e r e Hypoplasia of Lungs  15+ 1/2 (17 dates}  749.10  U n i l a t e r a l L Cleft L i p  15+ 1/2 (17 dates)  756 49  Skeletal D y s p l a s i a Affecting Mainly L o n g B o n e s  15+ 1/2 (17 dates)  228.1  Cystic Hygroma  15+ 1/2 (17 dates)  778.0  Severe Generalized 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 c o n f i r m e d d u e to F r a g m e n t a t i o n  10  N o Developmental Abnormalities  169  Autopsy Findings  Appendix III Method o( TA  Amniotic EGA at Fluid  Termination  Narrow  Diagnosis;  Coda: 757.2  Bilateral S i m i a n C r e a s e  755.50  B i l a t e r a l 5th F i n g e r C l i n o d a c t y l y  745.68  P a r t i a l A t r i o v e n t r i c u l a r C a n a l D e f e c t - L a r g e Atrial C o m p o n e n t , S m a l l e r V e n t r i c u l a r C o m p o n e n t  756.00  Imp: D o w n ' 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  Bicuspid Pulmonary E d e m a  751.01  M e c k e l s Diverticulum  745.58  A S D , Partial  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 o f H a n d s B e t w e e n Digits  758.20  Imp: T r i s o m y 1 8 S y n d r o m e H e a d is d a m a g e d .  Adrenal Hypoplasia Imp: M u l t i f a c t o r i a l N T D Anencephaly 741.9  (holoacrania)  Cervical Rachtschisis  754.73  Bilateral Club Feet  759,24  Thymic Hyperplasia  756.30  O n l y 1 0 p a i r s o f ribs Pulmonary Hypoplasia  753.16  C y s t i c Dysplasia of Kidney  752.9  A p p a r e n t 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 o f U r i n a r y B l a d d e r )  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 l o a c a ) A b n o r m a l i t y  745.50  Foramen Ovale  759,89  Features Suggestive of C y c l o p i a  758 10  Imp: T r i s o m y 1 3 S y n d r o m e  747 21  H y p o p l a s i a o f A o r t i c Isthmus  747 5  Single Umbilical Artery  746.4  Bicuspid Aortic Valve  745 48  V S D , Small Perimembranous  741.94  Sacral Meningocele  758.00  Imp: D o w n ' s S y n d r o m e  755.50  B i l a t e r a l 5th F i n g e r C l i n o d a c t y l y  P N D o f O m p h a l o c e l e a n d C N S not c o n f i r m e d d u e to f r a g m e n t a t i o n  Imp: M u l t i f a c t o r i a l N T D  756.08  Flat O c c i p u t  751.01  M e c k e l ' s Diverticulum  758.00  Imp: D o w n ' s 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 c o n f i r m e d d u e to F r a g m e n t a t i o n  748 51  Pulmonary Hypoplasia  745.51  A S D (Secundum Type)  755.50  Bilateral 5th Finger Clinodactyly  14 (GP.) 16 (dates)  S u s p e c t IUD, 2 w k s retention  14 (GP.) 16(dates)  Dilated Urinary Bladder  14 (GP.) 16(dates)  P o x i m a l U p p e r L i m b s a r e Short, S h o r t e n t i n g o f L o n g B o n e s  14 (GP.) 16 (dates)  Short L o w e r Limbs s e e n Radiologically  14 (G.P.) 16 (dates)  N o S p e c i f i c D i a g n o s i s for S h o r t L i m b s  14 (G.P.) 16 (dates)  Imp: M C A , N o S p e c i f i c D i a g n o s i s  762.28  Imp: P r i m a r y P l a c e n t a l A b n o r m a l i t y , Stillbirth  761.2  Oligohydramnios Dysmorphism  752.60  Hypospadias  762.28  Hypoplastic Placenta with Poorly D e v e l o p e d V e s s e l s  762.28  Marked Artherosis, Placenta  762,20  Infaction,  747.5  2 Vessel Cord  Placenta  762.7  Chorioamnionitis  742 88  Bilateral Germinal Eminence Hemorrhage in Brain (Lateral Ventricles)  764 9  IUGR  758.58  Imp: M o s a i c 4 6 , X Y , d e l (5), ( p 1 4 . 1 ) N o Developmental Abnormalities  7475  Single Umbilical Artery N o Other Externally Demonstrable A n o m a l i e s  553.1  Large Omphalocele Containing Liver, Small Bowel, Stomach and Spleen  553.1  Small Omphalocele  755.51  Abnormal Clenching o f 4th & 5th Fingers  755.00  Left P o s t a x i a l T a g  170  Autopsy F i n d i n g s  Appendix III Code No:  Method  AjnmotJC EGA at  Narrow  Diagnosis:  Termi nation  Code:  l  16 + 6  746.4  Asymmetrical Dysplastic Bicuspid Aortic V a l v e  1  16 * 6  758.12  Imp: 4 6 , X Y , - 1 4 , t ( 1 3 q ; 1 4 q ) , t r i s o m y 1 3  1  1  13 + 6  747.19  Coarctation of Aorta  1  1  13 + 6  758.61  Imp: 4 5 , X fetus / 4 6 , X , d e l ( X ) ( p 2 1 ) p l a c e n t a  1  4  16  753.88  Enlarged Urinary Bladder  1  4  16  759.7  Imp: M C A , S u g g e s t i v e o f C l o a c a l D y s g e n e s i s / U r o r e c t a l S e p t u m M a l f o r m a t i o n S e q u e n c e  I  4  16  756.18  Lumbosacral Spinal A r c h Malformation  1  4  16  753.69  Urethral Obstruction  1  4  16  754.73  Bilateral Club Feet  1  4  16  751.23  A n a l / R e c t a l Agenesis, Possible Rectovesical communication  1  1  16 * 1/2  759.04  Accessory Spleen  1  1  16 • 1/2  744.81  Microstomia  1  1  16 + 1/2  751.01  M e c k e l s Diverticulum  1  1  16 * 1/2  756.68  A g e n e s i s o f L Hemidiaphragm  1  1  16 * 1/2  746.7  Hypoplastic L Heart Syndrome  1  1  16 - 1/2  756.08  Hypotelorism  1  1  16 - 1/2  742.26  Alobar Holoprosencephaly  1  1  16+ 1/2  758.58  Imp: C h r . 1 8 D u p l i c a t i o n D e f i c i e n c y S y n d r o m e  1  1  16 + 1/2  742.25  Cebocephaly  1  1  16 + 1/2  748.18  Single Nostril  4  3  14 • 5  759,7  Imp: M C A , N o S p e c i f i c  4  3  14 + 5  K i d n e y s w e r e not identified  •>  3  14 • 5  No Developmental Anomalies  1  2  20  1  2  20  OITA  Fluid  1 1 39737  39788  39 794  39819 Diagnosis  39905 N o K i d n e y s o r A d r e n a l s Identified N o D e v e l o p m e n t a l A b n o r m a l i t i e s i n Intact P a r t s  1  2  20  759.7  1  1  16  553.1  1  1  16  1  1  16  747.5  Single Umbilical Arteries  4  1  10+ 3(73 days)  753.16  Bilateral C y s t i c Dysplastic K i d n e y s  4  1  10 * 3(73 days)  755.00  Polydactyly, Post Axial T a g L Hand  4  1  10+ 3(73 days)  755,01  Duplicated Thumb R H a n d  4  1  10+ 3(73 days)  755.02  Hexadactyly R, L Feet  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 D y s p l a s t i c T r i c u s p i d V a l v e  4  1  10 + 3(73 days)  746 4  Mildly D y s p l a s t i c A o r t i c V a l v e  4  1  10 * 3(73 days)  759.69  Imp: M C A , Diff. D x . Elejalde S y n d r o m e o r P o l y d a c t y l y O b s t r u c t i v e U r o p a t h y  4  1  10 + 3(73 days)  746.08  Mildly D y s p l a s t i c P u l m o n a r y V a l v e  4  1  10 + 3(73 days)  1  1  17 * 1  755.50  Bilateral 5th Finger Clinodactyly  1  1  17* 1  747.25  Overriding Aorta  1  1  17* 1  745 48  V S D , Large  1  1  17* 1  746.6  Mitral Vatve, Diaphanous a n d Redundant  1  1  17+1  746,1  Tricuspid V a l v e , Diaphanous + Redundant  1  1  17* 1  746.08  Pulmonary Atresia, Complete  1  1  17* 1  745.20  T e t r a l o g y o f Fallot  1  1  17* 1  758.58  Imp. 4 6 , X X , - 9 , +der(9), t ( 9 ; 1 8 ) ( p 2 4 ; q 2 1 )  2  1  19* 4  748.58  Incomplete F i s s u r e F o r m a t i o n o f R L u n g  2  1  19* 4  744,24  Low Set Ears  2  1  19 * 4  759.11  Hypoplasia of Adrenals  2  1  19-4  755,09  Bilateral Hexadactyly of Hands  2  1  19* 4  756.08  B r o a d N a s a l Bridge  2  1  19 * 4  745.20  T e t r a l o g y o f Fallot  2  1  19 * 4  742.21  Absence of Corpus Callosum  2  1  19 * 4  758.56  Imp: 4 6 , X Y , d e r ( 1 0 ) , t(7;10)(p21 :q13)  2  1  15 - 12  756.34  Rib Anomalies  2  1  15+ 12  755,28  S h o r t R A r m with A b s e n t R a n d i u s a n d R a d i a l R a y A n o m a l y  2  1  15+ 12  748.58  Imcomplete L o b a t i o n R L u n g  2  1  15 + 12  748.58  Imcomplete F i s s u r i n g L u n g s  2  1  15 + 12  756.18  Butterfly S h a p e d  2  1  15+ 12  762,8  Imp: E a r l y A m n i o n R u p t u r e S e q u e n c e  2  1  15+ 12  744.88  Bilateral Pterygium, Short N e c k  2  1  15 + 12  750.25  Abnormal Hard Palate, Prominent Alveolar Ridge, Medial G r o o v e in Hard Palate  2  1  15+ 12  748.18  Asymmetrically S h a p e d  2  1  15 + 12  744,24  Low Set Ears  2  I  15 + 12  740.01  Absent Cranium  2  1  15 + 12  755,34  Partial Amputatuion o f R Big 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 V e r t e b r a e  Imp: I U G R a n d O l i g o h y d r a m n i o s d u e t o p o s s i b l e r e n a l m a l f o r m a t i o n  39930 Omphalocele N o other Developmental Abnormalities  39931  T h e s t r u c t u r e s o f t h e n e c k a n d t h o r a x c o u l d not b e a s s e s s e d .  39932  Perimembranous  39942  39955  4O103  Vertebrae  Nares  171  Appendix III Coda No  Method ofTA  Autopsy F i n d i n g s Amniotic EGA at Fluid  Termination  Narrow  Diagnosis:  Code: 751.10  Duodenal Atresis  754.01  Potters F a c e s  742.88  Germinal Eminence  742.25  Polymicrogyria  742 48  Heterotrophic G r e y Matter  Hemorrhage  No Evidence of Toxoplasmosis 759 7  Imp: M C A  762 28  Placenta, C h a n g e s A s s o c i a t e d With IUD, Fibrinoid Degeneration of Maternal V e s s e l s No other Developmental Abnormalities  748 51  Lung Hypoplasia  758 58  Imp: 4 6 , X Y , d e l ( 1 4 ) ( p 3 2 . 1 -qter), I U D 7 d a y s retention  5  4  34 (G.P.) 4 25 (dates)  747.21  Hypoplastic Aortic Arch  5  4  34 (G.P.) 4 25 (dates)  756.79  Absent Abdominal W a l l Muscular  5  4  34 (G.P.) 4 25 (dates)  752.84  Absent Prostate  5  4  34 (G.P.) & 25 (dates)  744.24  Low Set Dysplastic Ears  5  4  34 (G P.) S 25 (dates)  744.91  Facial Dysmorphism  5  4  34 (G.P.) & 25 (dates)  759.89  Imp: L i m b 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  Bilateral Hydroureter  5  4  34 (G.P.) S 25 (dates)  747.19  Coarctation of Aorta  5  4  34 (G.P.) a 25 (dates)  753.16  Bilateral C y s t i c Kidneys  5  4  34 (G.P.) a 25 (dates)  752.59  Absent Urethra  5  4  34 (G.P.) a 25 (dates)  752 85  Absent Definitive P e n i s  5  4  34 (G.P.) & 25 (dates)  747.5  2 Vessel Cord  5  4  34 {G.P.) 4 25 (dates)  753.20  L Hydronephrosis  5  4  34 (G.P.) 4 25 (dates)  752.80  Absent Gonads  5  4  34 (G P ) 4 25 (dates)  754.20  Severe Scoliosis  2  ,  36  758.10  Imp: T r i s o m y 1 3 S y n d r o m e  2  1  36  749.20  L Cleft L i p  2  1  36  757.39  Cutis Aplasia - Scalp  2  1  36  743.1  Bilateral Microopthalmia  2  1  36  742.28  Absent Olfactory L o b e  2  1  36  753.20  Bilateral Hydronephrosis  2  1  36  749.20  L Cleft P a l a t e  2  1  36  745.51  A S D , Secundum Type  2  1  36  752.88  Ambiguous Genitalia  2  1  36  745.20  T e t r a l o g y o f Fallot V a r i a n t  2  1  36  553.1  Omphalocele  2  1  36  742.48  Cerebellar  2  1  36  751.01  M e c k e l s Diverticulum  3  5  28  756.18  Segmentation Anomalies of S a c n .  3  5  28  747.5  Single Umbilical Artery  3  5  28  745.20  T e t r a l o g y o f Fallot  3  5  28  753.01  L Renal Agenesis  3  5  28  755.24  Absent Thumb, R Hand  3  5  28  755.26  Radial Aplasia  3  5  28  749.20  R Cleft P a l a t e  3  5  28  749.20  R Cleft L i p  3  5  28  759.89  Imp: M C A , Diff. D x . 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 s o m y 1 6 S y n d r o m e  4  1  15  746.88  Polyvalvular Dysplasia  4  1  15  745.48  VSD,  746.88  Polyvalvular Dysplasia  755 51  O v e r l a p p i n g F i n g e r s 2 n d & 5 t h o v e r 3 r d & 4th  758 20  Imp: T r i s o m y 1 8 S y n d r o m e  Heterotopias  Perimembraneous  755 02  Polydactyly & Ectrodactyly L Foot  755.50  O l i g o d a c t y l y o r E c t r o d a c t y l y with 3 digits L h a n d  759.7  Imp: M C A  P N D o f O m p h a l o c e l e not c o n f i r m e d d u e to fragmentation  N o other Developmental Abnormalities 740.02  D a m a g e d H e a d Suggestive of Anencephaly Imp: M u l t i f a c t o r i a l N T D  758.60  Imp: T u r n e r S y n d r o m e  778.5  Dorsal Edema, Hands and Feet  747.38  H y p o p l a s t i c P u l m o n a r y Trunk  746 88  L Ventricle Hypertrophy  746.00  Pulmonary Atresia  746.1  Tricuspid Dysplasia  Autopsy F i n d i n g s  Appendix III Method ofTA  Amniotic EGA at Fluid  Termination  Narrow  Diagnosis:  Code: 746.88  R Atrium Dilatation  746,2  E b s t e i n ' s A n o m a l y o f the H e a r t  18 • 1/2  758.10  Imp: T r i s o m y 1 3 S y n d r o m e  16 * 1/2  751.49  Malrotation of Gut  16 * 1/2  748.10  Absent N o s e  16 * 1/2  756.08  M i d l i n e Clefting  16 * 1/2  756.08  Hypotelorism  16 * 1/2  742.26  Holoprosencephaly  16 • 1/2  742.25  Cebocephaly  16 + 1/2  755.00  Postaxial Polydactyly, Hands, Bilateral  16 * 1/2  745.20  T e t r a l o g y o f Fallot  764.9  IUGR  17 • 1/2  742.58  Periventricular Leukomalacia  17 • 1/2  756.90  R e d u c e d M u s c l e Bulk, All E x t r e m i t i e s  17 + 1/2  744,88  Short N e c k  17- 1/2  744.91  Craniofacial Dysmorphism  17 + 1/2  756.08  Hypertelorism, Mild  17 * 1/2  748.18  Flat N o s e  17 • 1/2  744.24  Low Set Dysplastic Ears  17 + 1/2  524.0  Microretrognathia  17 * 1/2  Cleft P a l a t e Borderline I U G R  17 * 1/2  754.20  Scoliosis  748,51  Pulmonary Hypoplasia  17 + 1/2  Imp: F e t a l A k i n e s i a S e q . c o n s i s t ' n t c P e n a S h o k i e r , Multi. P t e r y g i u m , o r A r t h r o g r y p o s i s Multiplex C o n g e n i t a  17 + 1/2  Arthrogryposis, Generalized  17 + 1/2  757.8  Mutiple P t e r y g i a , A n t e r i o r A x i l l a e A n t e c u b i t a l  17 • 1/2  778.5  G e n e r a l i z e d E d e m a , Slight  755.00  Postaxial Tags - Hands  755.02  Bilateral Hexadactyly - Feet  758.10  Imp: T r i s o m y 1 3 S y n d r o m e  Limb Positional Deformaties (Oligo. Seq.) W i z e n e d F a c e s (Oligohydramnios Sequence) Bilateral Germinal E m i n e n c e  Hemorrhage  753.16  Multicystic Dysplastic H o r s e s h o e Kidney  745.59  ASD  + 5 G.P.. 14 dates  No other Developmental Abnormalities  * 5 G.P., 14 dates  Imp: T r i s o m y 1 8 S y n d r o m e  2  4  24 (G.P.) 26 (dates)  762.8  Amnion Nodosum, Minimal  2  4  24 (G.P.) 26 (dates)  762.28  Decidual Necrosis, Deciduitis and Thrombosis  2  4  24 (G.P.) 26 (dates)  748.51  Immature L u n g s ( O l i g o h y d r a m n i o s S e q u e n c e )  2  4  24 (G.P.) 26 (dates)  752,86  Enlarged Penis  2  4  24 (G.P.) 26 (dates)  753,88  Urinary Bladder, smooth a n d skeletal muscle hypoplasia  2  4  24 (G.P.) 26 (dates)  753.88  Bladder Dilation  2  4  24 (G.P.) 26 (dates)  753,29  Hydroureter  2  4  24 (G.P.) 26 (dates)  753,16  Cystic Dysplasia of Kidneys  24 (G.P.) 26 (dates)  752.88  Prostatic A p l a s i a with Patent Urethra  Hypoplastic Urachal Bladder  2  2  2  21 • 1/2  753.79  2  2  21 * 1/2  754.73  Bilateral Club Feet  2  2  21 • 1/2  754,01  Mild Potters F a c i e s  2  2  21 * 1/2  753.00  Bilateral R e n a l A g e n e s i s  748.58  Bilateral B i - L o b e d Lungs  2  ,  24  2  1  24  759.30  Dextrocardia  2  1  24  746.88  Juxtaposition o f Atrial A p p e n d a g e s  2  1  24  747,48  Bilateral V e n a e C a v a e  2  1  24  759.39  S i t u s I n v e r s u s - 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  Malrotation of B o w e l  2  1  24  759,11  Adrenal Hypoplasia  2  1  24  753,29  Hydroureters, Mild, Bilateral  2  1  24  746.00  Atresia of Pulmonic V a l v e  2  1  24  745 48  V S D , Muscular  2  1  24  745.1  Hypoplasia + Dysplasia of Tricuspid V a l v e s  2  1  24  746.88  2  1  24  747,0  R Ductus Arteriosus  2  1  24  745.51  ASD,  2  1  24  759,7  Imp: P o s s i b l y H y d r o l e t h a l u s , M C A  2  1  24  742,39  Hydrocephalus  2  1  24  745.10  T r a n s p o s i t i o n o f Grt. V e s s e l s  2  1  24  747.23  R Aortic Arch  Hypoplasia of R Ventricle  Secundum  P N D o f P o l y d a c t y l y not c o n f i r m e d d u e to mild frag, o f p o s t a x i a l a s p e c t o f H a n d s  173  Appendix III Method of TA  Autopsy Findings Arnniooe EGA at Fluid  Termination  Narrow  Diagnosis:  Code: 758.10  Imp: T r i s o m y 1 3 S y n d r o m e  759.89  Cyclopia  756.08  Proboscis  741.98  L u m b o s a c r a l S p i n a Bifida  747.5  Single Umbilical Artery  B i l a t e r a l Ctub F o o t C N S Not A s s e s s a b l e 758,10  Imp: S u g g e s t i v e o f T r i s o m y 1 3 S y n d r o m e  749,09  Cleft P a l a t e  P N D o f U / S findings not c o n f i r m e d d u e t o f r a g m e n t a t i o n 759.7  Imp: M C A  749.20  R Cleft P a l a t e  747.19  Coarctation of Aorta  747.21  Tubular H y p o p l a s i a o f A o r t i c Isthmus  749.20  R Cleft L i p  75122  Blind E n d i n g C o l o n  752.48  Prominent Phallic Structures  756.34  Bifid L o w e r T h o r a c i c R i b - B i l a t e r a l  754.59  Bilateral Equinovarus Foot Deformaties  759.18  Fused Adrenal Glands  75241  Vaginal Atresia  751,23  Anal Atresia  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 B i l a t e r a l H y d r o u r e t e 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  757.2  Bilateral Simian C r e a s e  759.7  Imp: M C A , S p e c i f i c E t i o l o g y Is Not K n o w n  754.76  Dorsal Flexion, L Foot  19* 1/2  742.39  Thin Cerebral Cortex Consistent With Ventriculomegaly  19 * 1/2  754,78  Bilateral P r o m i n e n c e of Heels  P N D o f C l u b b e d F e e t not c o n f i r m e d d u e to f r a g m e n t a t i o n Dorsalipedal  Edema  P N D o f C y s t i c H y g r o m a not c o n f i r m e d d u e to f r a g m e n t a t i o n 753,20  Hydronephrosis  758,50  Imp: T u r n e r s S y n d r o m e  744 88  Short Neck  744,24  Low Set Ears  758.20  Imp: T r i s o m y 1 8 S y n d r o m e  751 49  Malposition of Appendix  755.51  Flexion with Overlapping  750.28  Small Mouth  Fingers  553.1  Possible Small Omphalocele  751.01  M e c k e l s Diverticulum  746.88  Polyvalvular Dysplasia  746.08  Bicuspid Pulmonic Vatve  746.6  D y s p l a s i a o f Mitral Vatve  746 4  Dysplasia o f Aortic Vatve  746.1  Dysplasia of Tricuspid Vatve  745.48  V S D , Perimembranous  746.88  Hypertrophy R Ventricle  746.88  H y p e r t r o p h y R Atrium  524.0  Micrognathia  756.08  Frontal B o s s i n g  754.82  Narrow Chest  743 1  Microphthalmia  Single Palmar C r e a s e No other Developmental  Abnormalities  755.50  Mild Bilateral 5th Finger Clinodactyly  758.70  Imp: Klienfelters S y n d r o m e  747 5  Single Umbilical Artery  751 ot  M e c k e l ' s Diverticulum  Imp: P o s s i b l e C h r o m o s o m e A n o m a l y  P N D not c o n f i r m e d d u e t o f r a g m e n t a t i o n  Simian Crease, R Hand S c a n t O r g a n s found a r e submitted for Histology N o A b n o r m a l i t i e s a r e F o u n d i n t h e Intact P a r t s 758.00  Imp: D o w n ' s S y n d r o m e  755.50  5th F i n g e r C l i n o d a c t y l y R H a n d  P N D o f D i a p h r a g m a t i c H e m i a not c o n f i r m e d d u e to F r a g m e n t a t i o n  174  Autopsy F i n d i n g s  Appendix III Method o(TA  Amniotic EGA at Fluid  Termination  Narrow  Diagnosis:  Coda: 745.20  T e t r a l o g y o f Fallot  755.51  Abn Finger Flexion, 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 s o m y 1 3 S y n d r o m e  755 oo  Postaxiat Polydactyly L Hand  Absent Hippocampus with Migration Disorder Frontal B l o s s i n g with L a r g e Skull Shrortened Proximal Portions of Upper and Lower Limbs ? Disordered Ossification Hypospadias 748.51  P u l m o n i c H y p o p l a s i a with a N a r r o w C h e s t  755.19  Bilateral Syndactyly, R & L H a n d s  759.11  Hypoplasia of Adrenal Glands  758 58  Imp: D i g y n i c Triploidy  755.08  H e a d Disproportionately Large  754 88  S h r u n k e n Trunk  755.08  Hypertelorism  748.18  Pointed Tip of N o s e  750 28  S h o r t Phittrum  755.19  S y n d a c t y l y o f T o e s , L - 1 , 2, 3, 4 , R - all t o e s  753.00  Hypoplastic Kidneys  511.9  Bilateral Pleural Effusions  748.58  A b n . Lobation 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 i n g e r s , L - 2 n d S 3 r d , R - 2 n d , 3 r d , & 4th  778.0  Imp: N o n - i m m u n e H y d r o p s F e t a l i s  755.52  Wrists are Narrow  755.62  Ankles are Narrow  755.64  Valgus Deformatiy, K n e e s  757.2  Longitudinal Skin C r e a s e L Arm  757.8  Antecubital Pterygia  755.50  Small Thumbs  755.50  Finger W e b b i n g  511.9  L a r g e Pleural Effusions  778.0  Hydrops Fetalis, S e v e r e Extensive  764.9  IUGR  762.28  P l a c e n t a - Villus E d e m a  744 24  L o w Set Ears  756.08  Flat N a s a l B r i d g e  755 51  Flattened and B r o a d Dysmorphic Hands  754 78  Flattened and B r o a d Dysmorphic Feet  744 91  Antimongoidal Slant, E y e s  755.08  Bossed Forehead  762 8  Funisitis, early  762 7  Chorioamnionitis  753 38  A n t e r i o r R o t a t i o n o f Hilum, R K i d n e y  748 51  Pulmonary Hypoplasia  748 18  S i n g l e N a s a l C h o a n a , patent  746.88  Enlarged, Dilated R Atrium  745 51  A S D , secundum  742.26  H o l o p r o s e n c e p h a l y w i t h o l d infarction m i c r o s c o p i c in a r e a adjacent to t h a l a m u s  762.20  A r e a o f Infarction invorving 1 0 % o f P l a c e n t a l P a r e n c h y m a  762 28  A b n Placenta with G r e e n Discoloration o f M e m b r a n e s  742.1  Microcephaly  744 88  Short N e c k  758 10  Imp: T r i s o m y 1 3 S y n d r o m e R e t e n t i o n for > 1 w k  755.00  Bilateral, Postaxial Polydactyly, H a nds  756.08  Hypotelorism  754.78  Prominent H e e l P a d s  744.24  Low Set Ears  Low-Placed Pinnae 764.9  IUGR  758.20  Imp: T r i s o m y 1 8 S y n d r o m e  768.0  Intrauterine F e t a l D i s t r e s s , A c u t e InterviDus H e m o r r h a g e s ,  758,29  C h r . A n a l y s i s , C h o r i o n 4 7 , X Y , + 18, Cytotrophoblast 2 0 0 - 3 0 % Diploid, 7 0 - 8 0 % Triplold  757.68  Widely P l a c e d Nipples  756.02  Hypertelorism  741.01  Beaking of the Tectum  749,20  Left Cleft L i p  553.1  O m p h a l o c e l e , ruptured Left Cleft P a l a t e C a r d i a c Anomalies - Dr. Taylor dissection ... M e n i n g o c e l e a n d C h i a r i T y p e II M a l f o r m a t i o n  Placenta  Autopsy Findings  Appendix III Method ofTA  Amniotic EGA at Fluid  Terminal) on  Narrow  Diagnosis:  Code: 751.49  Intestinal M a l r o t a t i o n  768.0  Intrauterine F e t a l D i s t r e s s , A s p i r a t i o n A m n i o t i c Fluid S q u a l m e s , L u n g  756.08  Large Anterior Fontanelle  759.11  Hypoplastic Adrenal Gland  751.78  Fusion Pancreatic Tale and Spleen  753.32  H o r s e s h o e Kidney  754.50  Equinovarus Anomalies, Legs  755.51  Overlapping Digits, Hands  12* 2  755 01  Preaxial T a g s , Bilateral, Hands  12 • 2  746 88  12-2  745.49  12 * 2  746.6  12 * 2  747.23  R Aortic Arch  12 + 2  747.21  Tubular H y p o p l a s i a of Aortic A r c h  Polyvalvular Dysplasia VSD Mitral A t r e s i a  12 + 2  747 4i  Persistent L V e n a C a v a  12 + 2  753.88  Dilated Bladder  12+ 2  755.26  Radial Agenesis  12 + 2  7475  2 Vessel Cord  12 + 2  758 20  Imp: T r i s o m y 1 8 S y n d r o m e  12 + 2  P N D o f C y s t i c H y g r o m a not c o n f i r m e d d u e t o F r a g m e n t a t i o n  747.5  2 Vessel Cord  755.50  Unilateral 5th Finger Clinodactyly  12 - 1/2  745.48  V S D , small perimembranous  12 * 1/2  747.21  P r e d u c t a l T u b u l a r H y p o p l a s i a o f the A o r t a B e c a u s e o f the s e v e r e d a m a g e the c e r v i c a l r e g i o n o f the fetus c a n n o t b e e x a m i n e d .  Imp: D o w n ' s S y n d r o m e Incomplete Autopsy ( L e g Only)  22 - 23 wks  P N D o f H y d r o c e p h a l u s not c o n f i r m e d d u e to  22- 23 wks  Imp: M u l t i f a c t o r i a l N T D  22 - 23 wks  Lumbosacral Meningocele  fragmentation  No Developmental Abnormalities 758.00  Imp: D o w n ' s S y n d r o m e  749 21  B i l a t e r a l Cleft L i p  743 48  Bilateral Peripapillary C o l o b o m a t a  749 21  B i l a t e r a l Cleft P a l a t e  759.7  Imp: M C A P N D o f H o l o p r o s e n c e p h a l y Not C o n f i r m e d D u e T o F r a g m e n t a t i o n  758.00  Imp: D o w n ' s S y n d r o m e  748 51  Pulmonary Hypoplasia  754.50  Bilateral Equinovarus Deformaties of Feet  755.50  Bilateral 5th Finger Clinodactyly  553.1  O m p h a l o c e l e S a c Identified No other Developmental Abnormalities  R Ventricular Hypertrophy 746.01  Pulmonic Stenosis  747.26  Overriding Aorta  756.18  Hemi vertebrae  753.00  Bilateral Renal A g e n e s i s  755.50  Clinodactyly  748.51  Pulmonary Hypoplasia  745 49  VSD  P N D o f v e n t r i c u l o m e g a l y not c o n f i r m e d d u e to f r a g m e n t a t i o n Imp: U n e x p l a i n e d I U D 762.68  L o n g Hyrtl A n a s t o m o s i s o f U m b i l i c a l C o r d  758.00  Imp: D o w n ' s S y n d r o m e  756.08  Flat O c c i p u t  757.2  Bilateral S i m i a n C r e a s e  748.51  Mild Pulmonary Hypoplasia by Weight  755.50  Bilateral 5th Finger Clinodactyly  759.7  Imp: D e v e l o p m e n t a l F i e l d D e f e c t Involving t h e C a u d a l B l a s t o m a o f the E m b r y o  778.5  Mild E d e m a o n Dorsum o f Feet  P N D o f C y s t i c H y g r o m a Not Confirmed due to fragmentation  753.16  C y s t i c K i d n e y , Right S i d e  751.24  Anal Atresia  745.48  V S D , Large Subaortic  746.6  Mitral Vatve A t r e s i a  176  Autopsy Findings  Appendix III EGA at  Narrow  Termination  Code:  15 • 2  746.1  Dysplastic Tricuspid Valve  15 * 2  746.88  Hypoplastic L Ventricle  15 * 2  747.41  Persistent I Superior V e n a C a v a  15 - 2  746.4  Dysplastic Aortic Varve  15* 2  746.01  Subpulmonic Stenosis  15-2  758.29  Imp: 4 6 , X X , i d i c ( 1 8 ) ( p 1 1 . 3 )  15 • 2  745.11  D o u b l e Outlet R V e n t r i c l e  15 * 2  747.5  2 Vessel Cord  20-21  762.8  P l a c e n t a l M e m b r a n e s A t t a c h e d Directly t o the Skull  20-21  740.02  A p p e a r a n c e o f F e t u s w a s S i m i l a r t o that o f a n A n e n c e p h a l i c F e t u s  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  Adrenal Gland Hypoplasia  20-21  755.24  Amputation of 3rd Finger  20-21  762.8  Imp: A m n i o n D i s r u p t i o n S e q u e n c e  16 • 5  752.88  Bifid E x t e r n a l G e n i t a l i a  16 + 5  753 88  Hemibladders  16 + 5  553.1  Large Omphalocele  16 + 5  751.24  Anal Atresia  16 + 5  762.60  Short Umbilical C o r d  16 + 5  754.20  Scoliosis  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 , E x s t r o p h y , Imperforate A n u s a n d S p i n a B i f i d a  16-5  753.20  Dilated R e n a l Pelvis L Kidney  16 * 5  747.5  Single Umbilical 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  Omphalocele  13 + 3  758.10  Imp: T r i s o m y 1 3 S y n d r o m e  13 - 3  749.20  Right Cleft L i p  13 + 3  749.20  Right Cleft P a 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 c o n f i r m e d d u e to f r a g m e n t a t i o n  17 + 1  755.19  17+ 1  755.24  17 + 1  E c t r o d a c t y l y - 2/3 S y n d a c t y l y , L H a n d Imp: M a y R e p r e s e n t E c t e r o d a c t y l y E c t o d e r m a l D y s p l a s i a / C L / C P / S y n d r o m e N o other Developmental Abnormalities  17+ 1  755.24  M i s s i n g 3 r d Digit R H a n d  28 G.P.  32-33 dates  746.88  Antenatal Obstruction of F o r a m e n O v a l e  28 G.P.  32-33 dates  747.5  Single Umbilical Artery  28 G.P.  32-33 dates  762.28  M e c o n i u m P i g m e n t a t i o n , H i s t o c y t e s , P l a c e n t a l M e m b r a n e s , i n d i c a t i v e o f fetal s t r e s s  28 G.P.  32-33 dates  746.7  Imp: H y p o p l a s t i c L H e a r t  2B G.P  32-33 dates  747.19  Coarctation of Aorta  28 G.P.  32-33 dates  746.88  H y p o p l a s i a o f Left V e n t r i c l e  28 G.P.  32-33 dates  746 4  Bicuspid Aortic Valve  28 G P. 32-33 dales  746.88  H y p o p l a s i a o f Left Atrium  28 G.P.  32-33 dates  746.6  A t r e s i a o f Mitral Varve  28 G.P.  32-33 dates  745.48  V S D , Muscular  28 G.P.  32-33 dates  745.48  V S D , Perimembranous  Syndrome  17  753.00  B i l a t e r a l R e n a l A g e n e s i s , n o r e n a l t i s s u e identified  17  745.48  V S D , Perimembranous  18 • 1  755.88 ? G e n e r a l i z e d D e c r e a s e d  18 + 1  755.88  18 • 1 18 + 1  A b n o r m a l P r o c o l l a g e n S t u d i e s C o n s i s t e n t with O.I. (likely t y p e II) 756.88 1 756 34 Multiple F r a c t u r e s a n d D e f o r m a t i e s o f R i b s  19  758.70  4 7 , X X Y S y n d r o m e (Klinefelters S y n d r o m e )  19  755.50  Bilateral 5th Finger Clinodactyly  18 + 5  758.00  Imp; D o w n ' s S y n d r o m e  18 + 5  755.50  B i l a t e r a l 5th F i n g e r C l i n o d a c t y l y  18*5  757.2  L Simian Crease  18  744.88  Mild Nuchal E d e m a  18  756.08  Flat O c c i p u t  18  758.00  Imp: D o w n ' s S y n d r o m e  18  753.20  Mild Dilatation o f R e n a l P e l v e s  18  755.50  Bilateral 5th Finger Clinodactyly  18  757.2  Bilateral S i m i a n C r e a s e s  20 + 2  741.03  Hydrocephalus  20 + 2  754.50  Talipes Equinovarus  20 + 2  741.01  C h i a r i T y p e II M a l f o r m a t i o n s  20 • 2  741.01  Meningocle, Thoraco-Lumbar  20 * 2  Ossification  Multiple F r a c t u r e s a n d D e f o r m a t i e s o f L o n g B o n e s  Dandy W a l k e r Malformation Not Found  20 + 2  41214  Diagnosis:  Imp: M u l t i f a c t o r i a l N T D  177  Autopsy Findings  Appendix III Method of TA  Amniotic EGA at Fluid  Termination  Narrow  Diagnosis:  Code: P N D o f C y s t i c H y g r o m a not c o n f i r m e d d u e to f r a g m e n t a t i o n 758.00  Imp: D o w n ' s S y n d r o m e  778.5  Mild E d e m a  757.2  Bilateral S i m i a n C r e a s e  755.50  B i l a t e r a l 5th F i n g e r C l i n o d a c t y l y  758.00  Imp: D o w n ' s S y n d r o m e  15+ 2  755.58  Hypoplastic Clavicles  15+ 2  7578  Multiple P t e r y g i a i n A x i l l a , A n t i c u b i t a l , P o p l i t e a l & N e c k A r e a  15+ 2  749.09  Cleft P a l a t e  15+ 2  742.58 ? D i m y e l i a (probable)  15+ 2  755.19  Soft T i s s u e S y n d a c t y l y all T o e s  15+ 2  755,19  Soft T i s s u e S y n d a c t y l y all F i n g e r s  15+ 2  226 i  Posterior Cervical Hygroma  15' 2  764 9  IUGR  '15+ 2  759,89  Imp: Multiple P t e r y g i u m S y n d r o m e  15* 2  748.58  Incomplete F i s s u r e Formation o n Both Lungs  No Developmental Abnormalities P N D o f H y d r o p s not c o n f i r m e d 778.0  Imp: F e t a l H y d r o p s , S p e c i f i c E t i o l o g y N o t Identified, ( 1 0 % R . R . )  778.0  Imp: F e t a l H y d r o p s , S p e c i f i c E t i o l o g y N o t Identified, ( 1 0 % R . R . ) P N D not c o n f i r m e d d u e to f r a g m e n t a t i o n  22-23  762.8  Imp: A m n i o n D i s r u p t i o n S e q u e n c e  22-23  742 48  Asymmetry of Tentorium Cerebelli  22-23  742,48  A b s e n c e o f Fabt C e r e b r i  22-23  743 8  L E y e not F o r m e d i n t h e F a c e  22-23  748.18  Single Nostril  22-23  750.28  3 C l e f t s i n t h e M o u t h a n d a G r o v e i n t h e P a l a t e w i t h o n e o f the Left Clefts  755.50  Bilateral 5th Finger Clinodactyly  759.7  Imp: M C A with D i s t a n t C o n s a n g u i n i t y  754.73  Bilateral Clubbed Feet  553.1  Omphalocele, Large  755.50  C l i n o d a c t y l y o f 5th F i n g e r , B i l a t e r a l  751.49  Malrotation of Small B o w e l  Anencephaly C r a n i o r a c h i s c h i s i s , Failure of Closure 2,4 and 1 17* 1/2  C e r v i c a l Retroflexion  17 + 1/2  757.8  P t e r y g i a - A n t e r i o r , Axilliary, Inguinal  17 * 1/2  755.50  5th F i n g e r C l i n o d a c t y l y , B i l a t e r a l  17 + 1/2  747,21  Tubular H y p o p l a s i a of Aortic A r c h  17 + 1/2  747,5  Single Umbilical Artery  17 + 1/2  553,1  Omphalocele  17 + 1/2  748.58  Abnormal Lobation of Lungs  17 + 1/2  748.51  Pulmonary Hypoplasia  17 + 1/2  Imp: M u l t i f a c t o r i a l 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 F e t u s a n d P l a c e n t a  747.21  Mild Preductal Tubular H y p o p l a s i a o f Aorta  758.61  Imp: M o s a i c T u r n e r ' s S y n d r o m e  N o D e v e l o p m e n t a l A n o m a l i e s in P a r t s A v a i l a b l e Imp: U / S Identified M C A , R / O B a l a n c e d C h r . T r a n s l o c a t i o n In P a r e n t s  762.28  Circumvallate Placenta No Developmental Abnormalities P N D o f G a s t r o s c h i s i s not c o n f i r m e d d u e to f r a g m e n t a t i o n  741.01  L a r g e M e n i n g o m y e l o c e l e ( t h o r a c i c to s a c r a l )  741,01  C h i a r i It M a l f o r m a t i o n  754.59  V a r u s Deformity o f F e e t  741.01  Ventriculomegaly  741.03  Hydrocephalus  Imp: M u l t i f a c t o r i a l N T D  742.52  Diastematomyelia  741.03  Thora co-Lumbar N T D Imp: M u l t i f a c t o r i a l N T D  Arenal Hypoplasia D i s c o r d a n c e B e t w e e n H e a d a n d Trunk Asymmetric Growth Retardation Pulmonary Hypoplasia  178  Autopsy Findings  Appendix III Code No:  Method of TA  Amniotic EGA at Fluid  Termination  Narrow  Diagnosis:  Code: Mildly D y s m o r p h i c F a c e - P r o m i n e n t N o s e , R e c e s s e d M a n d i b l e Imp: S e v e r e O l i g o h y d . & G r o w t h R e t a r d a t i o n with n o c a u s e f o u n d  758.00  Imp: D o w n ' s S y d r o m e  757.2  Bilateral S i m i a n C r e a s e  745 20  T e t r a l o g y o f Fallot  74549  VSD  746.02  Pulmanoary Vatve Discordance  758.00  Imp: T w i n A D o w n s S y n d r o m e , T w i n B N o r m a l - S p o n t a n e o u s L o s s o f T w i n B  755.50  M i l d 5th F i n g e r C l i n o d a c t y l y - T w i n A  771,29  Multifocal Bacterial Proliferation, G r a m P o s . C o c c i - Twin A  762,52  True Knot in Umbilical C o r d - Twin B  771.29  A s c e n d i n g Infection - T w i n B  771.29  Fetal Vasculitis Placental Surface, G r a m Neg. - Twin B  753,88  Hypoplastic Bladder  752.48  Aplastic Upper Vagina Hypoplastic Ureters Abnormal Elongate Ovaries  753.00  Bilateral R e n a l A g e n e s i s  752.19  Hypoplastic Fallopian Tubes  755.51  Bilateral Camptodactyly, 2 n d & 5th overlapping 3rd & 4th N o other Developmental Abnormalities P N D o f D i a p h r a g m a t i c H e m i a not c o n f i r m e d d u e t o f r a g m e n t a t i o n  746.6  Mitral V a l v e A t r e s i a  749.09  B i l a t e r a l Cleft P a l a t e  745.11  D o u b l e Outlet R V e n t r i c l e  746.01 745 49 746.88  Pulmonary V a l v e S t e n o s i s VSD Hypoplastic L Ventricle  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 o r D i G e o r g e S y n d r o m e  746 4  Hypoplasia o f Aortic Artery  758,60  Imp: T u r n e r S y n d r o m e , S p . V a g . D e l . ( D & E P l a n n e d )  746 88  Hypoplastic L Ventricle  753 32  Horseshoe Kidney  748.51  Pulmonary Hypoplasia  511.9  Bilateral Pleural Effusions  747.21  Hypoplastic Aortic Arch  778.5  Generalized Edema  778 o  Hydrops Fetalis  228.1  Cystic Hygroma  778,o  Ascites  751.49  M a l r o t a t i o n o f the G l S y s t e m  755.51  Bilateral 2 Finger Overlapping - 3rd & 5th overlapping 4th  741.01 741.01  Hydrocephalus Sacromeningomyelocele  741.01  C h i a r i II M a t f o r m a t i o n  755.88  Short Upper and L o w e r Limbs  756.79  Protuberant Abdomen  754,82  Narrow Chest  756.0B  L a r g e H e a d Displaying Frontal B l o s s i n g  756.34  Shortened Ribs  754 4  Bowing of Femus, Radii a n d Ulnae  745 6  Mitral Vatve A t r e s i a  745 48  V S D , Subaortic  758 10  Imp: T r i s o m y 13 S y n d r o m e  757 3i  R hand Postaxial Skin T a g  746.88  Cortriatriatum Sinister  745.11  D o u b l e Outlet R V e n t r i c l e  753 34  Kidneys and Adrenals are Large by Weight  Quadricuspid Pulmonary Vatve  3  17  2. (19 +4 dates)  746,02  3  17  2. (19 +4 dates)  764.9  IUGR  3  17  2. (19 +4 dates)  759.11  Adrenal Hypoplasia  3  17  2. (19 +4 dates)  758.58  Imp: T r i p l o i d y  3  17  2.(19 + 4 dates)  745.49  ASD  3  17  2.(19 + 4 dates)  744.91  Dysmorphic Facial Features  3  17  2.(19 + 4 dates)  748.51  Pulmonary Hypoplasia  3  17  2. (19 * 4 dates)  753.32  Renal Extopia of H o r s e s h o e Kidney  3  17  2. (19 * 4 dates}  753.00  Renal Hypoplasia  3  17  2. (19 +4 dates)  755.50  Bilateral Dysmorphic Fingers  3  17  2.(19 + 4 dates)  746,6  Mitral V a l v e , Endocardial Diverticulum  179  Autopsy Findings  Appendix III Code No:  Method o( TA  Amniotic EGA at Fluid  Termination  Narrow  Diagnosis:  Code:  Imp: U / S Identification o f C y s t i c H y g r o m a P N D of Cystic Hygroma Not Confirmed D u e to Fragmentation N o D e v e l o p m e n t a l A n o m a l i e s w e r e Identified i n t h e F e t a 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 Spleen  745 59  ASD  753 o i  A b s e n c e of Kidney  747.19  Aortic Arch Coarctation  747.5  Single Umbilical Artery  746.88  Hypoplasia of L Ventricle  753,48  A b n o r m a l D i s t a l P o r t i o n o f R U r e t e r w i t h O b s t . o f L u m e n (Dupl. b e l o w & D i l a t i o n A b o v e O b s . )  753.20  Obstructive Hydronephrosis o f R Kidney due to Distal Ureter Obst.  747.41  Persistent L Superior Vena C a v a  747.21  A o r t i c A r c h Isthmus H y p o p l a s i a  746.3  Aortic Valve Subaortic Stenosis  746 e  Mitral V a l v e A t r e s i a  745.11  D o u b l e Outlet R V e n t r i c l e  745.51  A S D , Secundum Type  746.1  Dysplasia of Tricuspid Valve  753.20  Mild Hydropervis - Bilateral  755,50  Camptodactyly of 2nd Finger of R Hand P N D o f V e n t r i c l o m e g a l l y not c o n f i r m e d Flat N a s a l bridge  758.58  Imp: 4 6 , X Y , del(6)(p25)  744.24  Low Posterior Rotated  Ears  Possible Cerebellar Vermis Hypertelorism  740.02  Anencephaly Imp: M u l t i f a c t o r i a l N T D  N o other Developmental Abnormalities 756 17  762,20  Sacrococcygeal  Teratoma  Large Placental Subchorionic  Hematoma  Imp: S p o n t a n e o u s A b o r t i o n 748.51  Hypoplasia of Lungs  778,5  Soft T i s s u e E d e m a , Diffuse  746.88 ? P e r i c a r d i a l E f f u s i o n s  (Pericardium)  778 o  Imp: F e t a l H y d r o p s F e t a l i s , n o s p e c i f i c c a u s e  778 o  A s c i t e s in peritoneal Cavities  749 07  Cleft Soft P a l a t e  511.9  Bilateral Pleural Effusions, C a v i t i e s  762,28  Edema of Placenta  22-23  228.1  Posterior Cervical Hygroma ?  22-23  755.50  L H a n d 5th Finger Clinodactyly  22-23  758.58  Imp: 4 6 , X Y , d e r ( 1 8 ) , t ( 1 1 ; 1 8 )  22-23  753.16  L Kidney Focal Cortical Cystic Dysplasia  754.73  Bilateral Club Feet  17 • 1/2  Hemiverteberae  17 • 1/2  746.4  Dysplastic Aortic Cusps  17 • 1/2  748.33  Tracheal Agenesis  17 + 1/2  745,48  V S D , Perimembranous  751,01  M e c k e l s Diverticulum  751.24  Imperforate A n u s  750.13  Esopageal-Carinal Fistula  748,30  Small Laryngeal Pouch  17 + 1/2  756.34  11  17 * 1/2  756.08  Cephalomegaly  ribs  Imp: 4 6 , X Y , t ( 2 ; 1 2 ) ( q 1 3 ; p 1 1 . 2 ) De novo Balanced Reciprocal Translocations No Developmental Abnormalities  511.9  Bilateral Pleural Effusions No Other Developmental Anomalies  762.7  C h o r i o a m n i o n i t l s with F e t a l V a s c u l i t i s a n d F u n i s i t i s i n d i c a t i v e o f a s c e n d i n g infection  752.84  Deficient D e v e l o p m e n t o f P r o s t a t i c T i s s u e  748.51  Pulmonary Hypoplasia  778.0  Ascites  753 16  Cystic Dysplastic R Kidney  753,38  Diminished Renal Parenchyma L Kidney  753.29  Bilateral Hydroureter  180  Autopsy F i n d i n g s  Appendix III Mathod ot TA  Amniotic EGA at Fluid  Termination  Narrow  181  Diagnosis:  Coda: 753.20  Bilateral Hydropetvis  Imp: M u l t i f a c t o r i a l N T D 74002  Anencephaly  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)  T u b u l a r H y p o p l a s i a o f A o r t i c Isthmus Left V e n t r i c u l a r D y s p l a s i a Dysplasia o f Pulmonary Vatve 746.4  Dysplasia of Aortic Vatve  745.63  A V C a n a l Defect  553.1  Omphalocele  754.73  Bilateral Club Feet  748.53  Imcomplete L o b a t i o n o f L u n g s  756.14  A b s e n c e of Vertebral Bodies C e r v i c a l A r e a  749.09  Cleft P a l a t e  758.02  Imp: T r i s o m y 1 8 S y n d r o m e  744.88  Nuchal Edema Dysmorphic Facial Features Syndactyly, 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 closure defect involving 2, 4 a n d 1  740.1  Craniorachischisis  745.49  VSD  745.51  A S D , Secundum Type  746 88  Polyvalvular Dysplasia - Aortic, Pulmonary & Tricuspid  746 7  Hypoplastic L Ventricle  747.21  Mild 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 H y p o p l a s t i c Left H e a r t S y n d r o m e , c a n n o t rule out A . R . I n h e r i t a n c e  778.0  Hydrops Fetalis  228.1  Cystic Hygroma  747.5  Single Umbilical Artery  757.2  Bilateral S i 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  758.00  Imp: D o w n ' s S y n d r o m e No Developmental Abnormalities  761 3 762 30  Polyhydramnios T w i n t o T w i n T r a n s f u s i o n (clinical) Placenta - disrupted  762 30  m a k i n g a m o r p h o l o g i c a l d i a g n o s i s o f twin to twin t r a n s f u s i o n  Imp: T w i n t o T w i n T r a n s f u s i o n w i t h P o l y h y d r a m n i o s I n d u c e d S p o n t a n e o u s L a b o u r  762 30  Marked Cord Discrepancy  759.30  Situs Inversus, both twins Hemorrhage a n d Congestion of V i s c e r a  743.6  Prominent E y e s  747.26  Overriding Aorta  745.20  T e t r a l o g y o f Fallot V a r i a n t  755.19  Bilateral Syndactyly, Hands  754.82  Narrow Chest  756 08  Increased Head Size  764 9  IUGR  758.58  Imp: Triploidy  745.51  A S D , Secundum Type  755.19  Bilateral Syndactyly, Feet  762.28  Hypertensive Decidual Vascular Vessels  747.38 746.88 745 49  Pulmonary Artery H y p o p l a s i a R Ventricular Hypertrophy  VSD  746.88  D i l a t e d R Atrium  753.16  Cystic Dysplastic L Kidney  747.5  2 Vessel Cord  762.7  M o d . Chorionamnitis  762.28  M o d . Deciduitis  746.00  Pulmonary Vatve Atresia  P N D not c o n f i r m e d d u e t o f r a g m e n t a t i o n N o other Developmental Anomalies 751 01  M e c k e l s Diverticulum  749.29  Cleft P a l a t e  758 10  Imp: T r i s o m y 1 3 S y n d r o m e  749.29  Cleft L i p  758 20  Imp: T r i s o m y 1 8 S y n d r o m e , 4 7 , X X , + 1 8  impossible  Appendix III Code No:  Method of TA  Autopsy F i n d i n g s Amniotic EGA at Fluid  Termination  16 - 1/2  Narrow  Diagnosis:  Code: 754.73  Bilateral Clubbed Feet  745 48  V S D , Perimembranous  747.5  Single Umbilical Artery  748.51  Pulmonary Hypoplasia  759.84  Imp: S i r e n o m e l i a S e q u e n c e  746.86  Cardiomegaly  753.38  Sigmoid Agenesis  751.24  Anorectal Agenesis  759 84  S i r e n o m e l i a S e q u e n c e , S i n g l e A b n . M i d l i n e Limb  753  Urogenital A g e n e s i s , Absent Kidney, Bladder, Genitalia and G o n a d s  758.10  Imp: T r i s o m y 1 3 S y n d r o m e  16 * 1/2  P N D o f N u c h a l C y s t i c H y g r o m a not c o n f i r m e d d u e t o f r a g m e n t a t i o n  16 * 1/2  755.00  16 * 1/2  755.02  Postaxial Polydactyly of L Foot  16 • 1/2  745.20  T e t r a l o g y o f Fallot  16 + 1/2  752.48  Dysplastic External Genitalia  75101  M e c k e l s Diverticulum  740 02  Neural T u b e C l o s u r e T y p e 2 Defect  745.51  A S D , Secundum Type  Bilateral Postaxial Polydactyly of Hands  Imp: M u l t i f a c t o r i a l N T D  755.50  Bilateral 5th Finger Clinodactyly  740.02  Anencephaly (Merocrania)  Kyphoscoliosis of Thoracic Vertebrae Single F u s e d Kidney Hirsutism 754.73  R Club Foot  740.2  Iniencephaly  744.91  Sriort Forehead. Flat Occiput. Shalow Ortital Ridges, inner Epicanthal Folds, Broad Nasal Bridge. Upslanting Palpebral Fissures  524.0  Micrognathia  759.7  Imp: M C A , P o s s i b l e C h r o m o s o m e A n o m a l y - ( R . R . 5%)  744.88  Short N e c k  756.30  9 Ribs  742.25  Poly microgyria  742.48  Lateral Ventricle Collapse  742.21  Absent Corpus Callosum  742.28  Absent Olfactory L o b e a n d Tract  553.1  Omphalocele  762.7  Chorionamnitis  744.24  Low Set Ears  762.7  F o c a l V i l l u s Infection, P l a c e n t a  746.88 ? P e t e c h i a l H e m o r r h a g e s o n H e a r t Hypertrophic G r e y Matter, F o c a l  753.20  L Hydronephrosis  748.51  Pulmonary Hypoplasia  742.00  Occipital Encephalocele  752.08  L Gonadal Agenesis  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  752.38  R Unicomuate Uterus  745.51  A S D , Secundum Type  747.21  H y p o p l a s i a o f A o r t i c Isthmus  553.1  Large Omphalocele  756 30  11 R i b s  Redundant Nuchal Skin No other Developmental Abnormalities 778.5  Edema of Hands and Feet  228.1  Imp: C y s t i c H y g r o m a w i t h A s s o c i a t e d Btlat. P l e u r a l E f f u s i o n s - e t i o l o g y i s not k n o w n  755 09  Postaxial Polydactyly L Hand a n d L Foot  748.18  Abnormal N o s e , (Holoprosencephaly ?)  758 i o  Imp: T r i s o m y 13 S y n d r o m e  749.09  Cleft P a l a t e P N D o f H e a r t D e f e c t not c o n f i r m e d d u e to f r a g m e n t a t i o n  N o D e v e l o p m e n t a l A b n o r m a l i t i e s In Intact P a r 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  Characteristic Hand Positioning Heart E x a m Pending  ???  758.20  Imp: T r i s o m y 1 8 S y n d r o m e  762.28  Immature P l a c e n t a l T i s s u e  Atrioventricular Septal Defect Imp: C o n g e n i t a l H e a r t D e f e c t  Appendix III Method ofTA  Autopsy F i n d i n g s Amniotic EGA at Fluid  Termination  Narrow  Diagnosis:  Code:  750.28  Small Mouth  749.29  Cleft P a l a t e  524.0  Micrognathia  744,24  L o w Set E a r s  746 4  Dysplastic Bicuspid Valves  747,21  Aortic Hypoplasia  745.48  VSD,  758.20  Imp: T r i s o m y 18 S y n d r o m e  749.29  Cleft L i p  758.00  Imp: D o w n ' s S y n d r o m e  Perimembranouss  755.50  B i l a t e r a l 5th F i n g e r C l i n o d a c t y l y  757 2  Bilateral Simian C r e a s e H e a r t D i s e c t i o n i s P e n d i n g - A d d e n d u m R e p o r t wiD be r e l e a s e d  753.00  Bilateral R e n a l A g e n e s i s  748.51  Pulmonary Hypoplasia, (Oligohydramnios Sequalae)  755.88  P o s i t i o n a l Deformity o f L o w e r L i m b s ( O l i g o . S e q u a l a e )  P N D of N T D not confirmed due to  fragmentation  N o Developmental Abnormalities Imp: M u l t i f a c t o r i a l N T D ( a n t e n a t a l finding)  Head-Frontal Blossing S e v e r e Platyspondyly 755.88  Short L o n g B o n e s  755,88  Physeal Disorganization Dysmaturation of Bones Short R i b s  778 0/742 Imp: F e 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 D e v e l o p m e n t a l A b n o r m a l i t i e s in p a r t s s u b m i t t e d for e x a m The head is separate and extensively damaged  Imp: M u l t i f a c t o r i a l N T D 741,98  M e n i n g o m y e l o c e l e at t h e L o w e r T h o r a c i c / L u m b a r V e r t e b r a l C o l u m n  747.19  Aortic Coarctation  758,60  Imp: T u r n e r s S y n d r o m e  778.5  Generalized Edema  228.1  Cystic Hygroma, Posterior Cervical  S h o r t a n d Irregular R U l n a 746.88  Polyvarvular Dysplasia  748.51  Pulmonary Hypoplasia  755.26  Absent R Radius  755.52  Bilateral Wrist Flexion  758.20  Imp: T r i s o m y 18 S y n d r o m e  759.84  Imp: P o s s i b l e H o l t - O r a m 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  747 41  Posterior L Superior V e n a C a v a  745 63  A V C a n a l Defect  759.84  Imp: Diff. D x . H o l t - O r a m 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  755.58  Bilateral Handlebar C l a v i c l e s  755.28  U l n a slightly b o w e d a n d s h o r t e n e d  755,52  R a d i a l D e v i a t i o n o f h a n d s at w r i s t s  755.26  Bilateral A b s e n c e of R a d i u s and Thumbs  746 i  Dysplastic Tricuspid Varve P N D o f C y s t i c H y g r o m a not c o n f i r m e d due to  747.41  Persistent L Superior V e n a C a v a  745 49  VSD  746.08  Oysplastic Pulmonary Varve  758.20  Imp: T r i s o m y 18 S y n d r o m e  746 4  B i c u s p i d Aortic V a l v e  748.51  Mild Pulmonary Hypoplasia  fragmentation  N o other Developmental Abnormalities 754 20  Scoliosis  762.28  Abnormally Large Placenta  756 7i  Gastroschisis  764 9  IUGR  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  758 09  Imp: Diff. D i a g n o s i s o f T r i s o m y 21 S y n d r o m e  17 * 1/2  756.90  Transient Myeloproliferative Disorder  17 + 1/2  762.20  Placental  17 <• 1/2  762.20  I n c r e a s e d Pervillous Fibrin (Borderline)  Infarctions  Pancytopenia  Syndrome  Autopsy F i n d i n g s  Appendix III Code No:  Method o(TA  Amniotic EGA at Fluid  Narrow  Diagnosis:  Termination  Code:  34  17 * 1/2  757.20  Simian Crease  34  17 + 1/2  754.01  Potters 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 F i n g e r C l i n o d a c t y l y  4  15- 18 G.P. 20 dates  778.5  4  15- 18 G.P. 20 dates  4  15- 18 G.P. 20 dates  747.5  4  15- 18 G.P. 20 dates  762,8  Increased syncytial Knotting  4  15- 18 G.P. 20 dates  778.0  Ascites  4  15- 18 G.P. 20 dates  758,69  Imp: T u r n e r S y n d r o m e  4  15- 18 G.P. 20 dates  746.4  Bicuspid Aortic Vatve  4  15- 18 G.P. 20 dates  747.21  Tubular H y p o p l a s i a of Aortic A r c h  4  15- 18 G.P. 20 dates  762.28  E x t e n s i v