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Counselling of age-related risks and prenatal diagnosis : an overview of community and medical genetics… Sedun, Karen Leah 1991

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COUNSELLING OF AGE-RELATED RISKS AND PRENATAL DIAGNOSIS: AN OVERVIEW OF COMMUNITY AND MEDICAL GENETICS COUNSELLING by Karen Leah Sedun B . S c , The U n i v e r s i t y of Manitoba, 1983 THESIS SUBMITTED IN PARTIAL FULFILLMENT OF THE REQUIREMENTS FOR THE DEGREE OF MASTER OF SCIENCE i n THE FACULTY OF GRADUATE STUDIES (Genetics Program) We accept t h i s t h e s i s as conforming to the r e q u i r e d standard THE UNIVERSITY OF BRITISH COLUMBIA JUNE 19 91 (5) Karen Leah Sedun In presenting this thesis in partial fulfilment of the requirements for an advanced degree at the University of British Columbia, I agree that the Library shall make it freely available for reference and study. I further agree that permission for extensive copying of this thesis for scholarly purposes may be granted by the head of my department or by his or her representatives. It is understood that copying or publication of this thesis for financial gain shall not be allowed without my written permission. Department of Medt'cg] Benches (genetics Froqrntr^) The University of British Columbia Vancouver, Canada Date DE-6 (2/88) A b s t r a c t The e f f e c t i v e n e s s of g e n e t i c c o u n s e l l i n g regarding r i s k s a s s o c i a t e d with advanced maternal age (AMA) and p r e n a t a l d i a g n o s i s (PND) was assessed i n three groups of women; those with AMA only who are c o u n s e l l e d by t h e i r primary care p h y s i c i a n or o b s t e t r i c i a n w i t h i n the community (AO, N=311), those with AMA pl u s a minor concern (s) who are c o u n s e l l e d by g e n e t i c c o u n s e l l o r s (AP, N=52), and those with AMA as w e l l as complex i n d i c a t i o n s f o r p r e n a t a l d i a g n o s i s such that they are c o u n s e l l e d by g e n e t i c c o u n s e l l o r s and medical g e n e t i c i s t s (AC, N=36). Subjects were asked to complete two q u e s t i o n n a i r e s . P a t i e n t s i n AO completed the f i r s t q u e s t i o n n a i r e (Ql) a f t e r r e c e i v i n g c o u n s e l l i n g from t h e i r primary care p h y s i c i a n i n the community and before having a p r e n a t a l d i a g n o s t i c procedure. P a t i e n t s i n AP and AC completed Ql at the Medi c a l G e n e t i c s c l i n i c immediately before t h e i r g e n e t i c c o u n s e l l i n g . P a t i e n t s i n a l l three groups completed the second q u e s t i o n n a i r e (Q2) e i t h e r immediately a f t e r t h e i r procedure before l e a v i n g the h o s p i t a l or w i t h i n four weeks p o s t -procedure, p r i o r to r e c e i v i n g t h e i r t e s t r e s u l t s . The q u e s t i o n n a i r e s were designed to look at s u b j e c t s ' knowledge of the in f o r m a t i o n normally presented i n AMA c o u n s e l l i n g and to assess the emotional responses of women rega r d i n g t h e i r involvement with PND. i i Patients in a l l three groups were more informed in Ql and Q2 regarding r i s k s associated with having a procedure than risks associated with a chromosomal abnormality. While a majority of the women in each group said that they had been told the risk estimates requested of them, the number of women in each group who subsequently reproduced these figures was less than a majority. F i n a l l y , patients in a l l three groups demonstrated a decrease in anxiety once the procedure was complete. The effectiveness of the genetic counselling process does not appear to be related to those providing the genetic counselling or the patient's a b i l i t y to r e c a l l f actual information. i i i Table of Contents Page A b s t r a c t i i Table of Contents i v L i s t of Tables v i i L i s t of F i g u r e s v i i i Acknowledgements ix I n t r o d u c t i o n 1 Chapter One 6 A s s e s s i n g the E f f e c t i v e n e s s of the Genetic C o u n s e l l i n g Process 6 Chapter Two 13 Knowledge and P e r c e p t i o n of Information Regarding P r e n a t a l Diagnosis 13 Chapter Three 18 F a c t o r s Involved i n the Decision-Making Process Regarding P r e n a t a l D i a g n o s i s 18 Chapter Four 25 Emotional Responses to P r e n a t a l D i a g n o s i s 25 C o n c l u s i o n 32 The Present Study 33 Chapter F i v e . 36 Method 36 Subje c t s 36 Procedure 38 P r e s e n t a t i o n of Data 40 i v Page Chapter S i x 43 R e s u l t s 43 Background Data 43 V a r i a b l e s Regarding P r e n a t a l Diagnosis 45 R i s k s A s s o c i a t e d with Advanced Maternal Age 46 Risks A s s o c i a t e d with Neural Tube Defects 51 R i s k s A s s o c i a t e d with P r e n a t a l D i a g n o s t i c Procedures 55 Knowledge i n Problems Regarding Abnormal R e s u l t s 61 S t a t e A n x i e t y and F e e l i n g s About P r e n a t a l D i a g n o s i s 63 A d d i t i o n a l Comments 68 A D e s c r i p t i v e Comparison Between the Complete Data Set and an Incomplete Data Set (Ql Only) 70 Chapter Seven 72 D i s c u s s i o n 72 A D e s c r i p t i o n of the Sample 72 The Reasons f o r Having P r e n a t a l D i a g n o s i s 73 The Reasons f o r Wanting P r e n a t a l D i a g n o s i s 74 The Decision-Making Process Regarding P r e n a t a l D i a g n o s i s 75 The E f f e c t i v e n e s s of Genetic C o u n s e l l i n g Regarding Age-Related R i s k s and P r e n a t a l Diagnosis 77 (i) R i s k s a s s o c i a t e d with advanced maternal age 79 v Page ( i i ) Risk a s s o c i a t e d with n e u r a l tube d e f e c t s 82 ( i i i ) R i s k s a s s o c i a t e d with p r e n a t a l d i a g n o s t i c procedures 85 The Response Regarding Abnormal R e s u l t s 87 The Emotional Response to P r e n a t a l D i a g n o s i s .... 88 A D e s c r i p t i v e Comparison Between the Complete Data Set and an Incomplete Data Set 91 L i m i t a t i o n s of the Current Study 91 C o n c l u s i o n 96 References 99 Appendices 108 Appendix A: Specimen Set of Q u e s t i o n n a i r e s (i) Q u e s t i o n n a i r e 1 108 ( i i ) Q u e s t i o n n a i r e 2 114 Appendix B: Pre-Determined Ranges f o r E v a l u a t i n g P a t i e n t Knowledge (i) Risk of Down's Syndrome 120 ( i i ) Risk of Neural Tube D e f e c t s 121 v i L i s t of Tables Page Table 1 Q u e s t i o n n a i r e s #1 & #2: Times Completed 39 2 Background Data 44 v i i L i s t of F i g u r e s Page F i g u r e 1 Ql & Q2: P a t i e n t R e c a l l of Risk of Down's 49 2 Ql & Q2: P a t i e n t R e c a l l of Risk of NTDs 53 3 Ql & Q2: P a t i e n t R e c a l l of Risk with Amnio 56 4 Ql & Q2: P a t i e n t R e c a l l of Risk with CVS 57 5 Ql $ Q2: P a t i e n t R e c a l l of Risk with Ultrasound .. 59 6 Ql & Q2: P a t i e n t R e c a l l of M i s c a r r i a g e Risk i n 1st T r i m e s t e r with no Procedure 60 7 Anxiety S t a t e : AMA Only 65 8 Anxiety S t a t e : AMA Pl u s 66 9 Anxie t y S t a t e : AMA Complex 67 10 Anxiety S t a t e : Test R e s u l t s 69 v i i i Acknowledgements The h e l p f u l guidance and support of my t h e s i s committee during the course of t h i s p r o j e c t i s g r e a t l y a p p r e c i a t e d : Dr. B. M c G i l l i v r a y , Department of Me d i c a l G e n e t i c s ; Dr. D. Cox, Simon F r a s e r U n i v e r s i t y ; Dr. D. Dwyer, Department of Family P r a c t i c e ; and Dr. J . Friedman, Department of M e d i c a l G e n e t i c s . In p a r t i c u l a r , I would l i k e to express my s i n c e r e thanks to my t h e s i s s u p e r v i s o r , Dr. B. M c G i l l i v r a y , who has been most generous with her time and support throughout the d u r a t i o n of my master's program. I would a l s o l i k e to extend my g r a t i t u d e to P a t r i c i a B i r c h f o r her help and suggestions with the data management, Ruth M i l n e r f o r her guidance regarding the data a n a l y s i s , and a l l of the s t a f f at the P r e n a t a l Assessment U n i t and the Department of M e d i c a l Genetics f o r being so p a t i e n t and understanding d u r i n g my r e s e a r c h . Without the encouragement from a l l of those mentioned, t h i s p r o j e c t would not have been n e a r l y as i n t e r e s t i n g and enjoyable as i t has been. ix 1 Part A I n t r o d u c t ion Genetic c o u n s e l l i n g regarding a g e - r e l a t e d r i s k s f o r having a c h i l d with a chromosomal abnormality i s a s e r v i c e many women wish to have. The changing r o l e s of women have caused the maternal age d i s t r i b u t i o n at time of pregnancy to change. According t o V i t a l S t a t i s t i c s Canada f o r the Province of B r i t i s h Columbia (B.C.), the percentage of t o t a l l i v e b i r t h s to women aged 35 and over has in c r e a s e d from 4.4% in 1978 to 9.6% i n 1988. Although the number of t o t a l b i r t h s per year has not changed, the number of women g i v i n g b i r t h at a l a t e r age has. A major c o n t r i b u t i o n to t h i s s t a t i s t i c i s the "baby boom" which occurred i n the middle of t h i s century (Adams, Oakley, & Marks, 1982; Hansen, 1986). As the women born i n t h i s time p e r i o d approach middle age (35 and over) i n the 80s and 90s, the percentage of b i r t h s to women of advanced maternal age i s i n c r e a s i n g . S e v e r a l reasons f o r t h i s delayed c h i l d b e a r i n g have been d i s c u s s e d (Lehmann & Chism, 1987; Robinson, Garner, Gare, & Crawford, 1987; Sjogren & Uddenberg, 1990), such as changing p r o f e s s i o n a l or pe r s o n a l g o a l s , f i n a n c i a l s t a b i l i t y , l a t e acquaintance of the r i g h t p a r t n e r , and the wish to be f r e e of r e s p o n s i b i l i t y . I r r e s p e c t i v e of the e f f e c t s t h i s trend i s imposing from a s o c i a l p o i n t - o f - v i e w , t h i s s h i f t i n the maternal age d i s t r i b u t i o n has important medical i m p l i c a t i o n s . I t i s w e l l documented that women of advanced maternal age have an i n c r e a s e d r i s k of having a c h i l d with Down's 2 syndrome and other chromosomal a b n o r m a l i t i e s (Hook, 1981; Simpson et a l . , 1976). As a r e s u l t , p r e n a t a l d i a g n o s t i c s e r v i c e s have become a v a i l a b l e to women worldwide, although the age l i m i t and u t i l i z a t i o n v a r i e s between and w i t h i n c o u n t r i e s ( B a i r d , Sadovnick, & M c G i l l i v r a y , 1985; Sjogren & Uddenberg, 1988). In 1985, B a i r d et a l . reported on the o v e r a l l u t i l i z a t i o n of amniocentesis i n B.C. f o r p r e n a t a l d i a g n o s i s by women of advanced maternal age. The study rev e a l e d that between 1976-1983, approximately one-out-of-three women aged 38 and over at d e l i v e r y chose to have p r e n a t a l d i a g n o s i s , with evidence t h a t u t i l i z a t i o n would continue to i n c r e a s e . The most common p r e n a t a l d i a g n o s t i c techniques p r o v i d e d to women inc l u d e amniocentesis and c h o r i o n i c v i l l u s sampling (CVS), both of which are c a r e f u l l y guided by u l t r a s o u n d scan. A c c e p t a b i l i t y and a t t i t u d e s of women towards the procedures a v a i l a b l e have been s t u d i e d elsewhere (McGovern, 1986; Sjogren & Uddenberg, 1989; Spencer & Cox, 1987, 1988), and showed a growing r e l i a n c e and use of CVS due to the advantage of e a r l i e r sampling. One of the most important components of a p r e n a t a l d i a g n o s t i c s e r v i c e i s the p r o v i s i o n of g e n e t i c c o u n s e l l i n g . I t s b a s i c f u n c t i o n s which i n c l u d e informing the p a t i e n t regarding p r e n a t a l d i a g n o s i s and her i n d i c a t i o n f o r i t , d e l i v e r i n g a l l r e l e v a n t i n f o r m a t i o n i n a n o n - d i r e c t i v e manner, and p r o v i d i n g support and autonomy at a l l times are 3 dependent upon the c o u n s e l l o r ' s a b i l i t y to communicate with p a t i e n t s . As the f i e l d of g e n e t i c c o u n s e l l i n g grows with an i n c r e a s i n g demand f o r p r e n a t a l d i a g n o s i s , e v a l u a t i o n s of the e f f e c t i v e n e s s of g e n e t i c c o u n s e l l i n g are necessary to v e r i f y that the s e r v i c e i s performing i t s f u n c t i o n s adequately and a c c o r d i n g to the needs of the p a t i e n t s r e q u e s t i n g p r e n a t a l d i a g n o s i s (Emery, 1984; Evers-Kiebooms & van den Berghe, 1979; F r e t s & N i e r m e i j e r , 1990; K e s s l e r , 1990; Somer, Mustonen, & Norio, 1988). Chapter One reviews the impact of g e n e t i c c o u n s e l l i n g f o r p r e n a t a l d i a g n o s i s . A p r e r e q u i s i t e to an informed d e c i s i o n to undergo any s c r e e n i n g or d i a g n o s t i c t e s t i s knowledge about the t e s t . T h i s a c q u i r e d knowledge and subsequent d e c i s i o n whether or not to have the t e s t i s dependent, i n p a r t , upon the c o u n s e l l i n g given to the p a t i e n t and her a b i l i t y to g i v e a t r u l y informed consent (Annas & E l i a s , 1990; Bernhardt, 1989; C a s s i l e t h , Zupkis, Sutton-Smith, & March, 1980; Marteau, Johnston, P l e n i c a r , Shaw, & S l a c k , 1988). The assessment of what c o n s t i t u t e s an informed d e c i s i o n has been reviewed e x t e n s i v e l y i n the l i t e r a t u r e ( K e s s l e r , 1990; Lippman-Hand & F r a s e r , 1979; Sjogren & Marsk, 1989; Sjogren & Uddenberg, 1988; Wertz, Sorenson, & Heeren, 1986; Sorenson, Swazey, & Scotch, 1981), although d i f f e r e n t measures have been used. Chapter Two examines how women experience the g e n e t i c c o u n s e l l i n g o f f e r e d to them with res p e c t to knowledge and 4 p e r c e p t i o n of the i n f o r m a t i o n presented. The d e c i s i o n to have p r e n a t a l t e s t i n g i s one that women should make once a l l r e l e v a n t i n f o r m a t i o n has been p r o v i d e d . Autonomy i s very important i n g e n e t i c c o u n s e l l i n g f o r p r e n a t a l d i a g n o s i s , from the p a t i e n t and the c o u n s e l l o r ' s p o i n t - o f - v i e w (Sjogren & Marsk, 1989). With r a p i d l y -expanding c a p a b i l i t i e s i n p r e n a t a l d i a g n o s i s and treatment, Annas and E l i a s (1990) r e p o r t on the l e g a l and e t h i c a l i m p l i c a t i o n s of f e t a l d i a g n o s i s on behalf of the i n d i v i d u a l s p r o v i d i n g the i n f o r m a t i o n to p a t i e n t s . The purpose of gen e t i c c o u n s e l l i n g , i n a d d i t i o n to d e l i v e r i n g i n f o r m a t i o n , i s to help f a m i l i e s make t h e i r own d e c i s i o n s . Furthermore, the c o u n s e l l o r should t a i l o r each c o u n s e l l i n g s e s s i o n to the needs of the i n d i v i d u a l p a t i e n t , as not a l l p a t i e n t s w i l l share the same concerns and understanding regarding p r e n a t a l d i a g n o s i s (Bernhardt, 1989). I n v e s t i g a t i o n s of the f a c t o r s involved i n a woman's d e c i s i o n to have p r e n a t a l d i a g n o s i s (Bernhardt, 1989; Murray et a l . , 1980; Sjogren & Marsk, 1989; Sjogren & Uddenberg, 1988) have aided those p r o v i d i n g the g e n e t i c c o u n s e l l i n g by a l l o w i n g a b e t t e r understanding of the decision-making process encountered by women. Chapter Three d i s c u s s e s the elements of decision-making as presented i n the c l i n i c a l g e n e t i c s l i t e r a t u r e , with p a r t i c u l a r r e f e r e n c e to the d e c i s i o n s regarding p r e n a t a l d i a g n o s i s f o r advanced maternal age. 5 Knowledge and understanding of p r e n a t a l d i a g n o s i s are most c e r t a i n l y important c r i t e r i a f o r informed consent. S e v e r a l s t u d i e s have reviewed whether or not e l e c t i n g to have a procedure i s s o l e l y due to the i n f o r m a t i o n d i s c u s s e d i n g e n e t i c c o u n s e l l i n g (Sjogren & Uddenberg, 1990; Wertz & Sorenson, 1986). These s t u d i e s and other r e s e a r c h on the emotional responses of women encountering p r e n a t a l d i a g n o s i s i n d i c a t e t hat the d e c i s i o n to have p r e n a t a l d i a g n o s i s i s a l s o dependent upon p s y c h o s o c i a l f a c t o r s ( S i l v e s t r e & F r e s c o , 1980; Sjogren & Uddenberg, 1989; Thomassen-Brepols, 1987; Tunis et a l . , 1990). Chapter Four examines the r e a c t i o n of p a t i e n t s to g e n e t i c c o u n s e l l i n g , demonstrating how the emotional response p l a y s an e s s e n t i a l r o l e i n the d e c i s i o n -making process r e g a r d i n g p r e n a t a l d i a g n o s i s . 6 Chapter One Asses s i n g the E f f e c t i v e n e s s of the  Gen e t i c C o u n s e l l i n g Process Measuring the e f f e c t i v e n e s s of g e n e t i c c o u n s e l l i n g i s a d i f f i c u l t task because of the m u l t i p l e g o a l s of the c o u n s e l l i n g process and the va r i o u s c r i t e r i a f o r d e f i n i n g what makes i t " e f f e c t i v e . " Genetic c o u n s e l l i n g i s a communication process i n which the o b j e c t i v e s and expe c t a t i o n s of both the c o u n s e l l o r and the p a t i e n t are not always the same. For t h i s reason, the e f f e c t i v e n e s s of ge n e t i c c o u n s e l l i n g can be evaluated through e i t h e r the c o u n s e l l o r or the p a t i e n t ' s p o i n t - o f - v i e w . Furthermore, v a r i a t i o n among c o u n s e l l o r s regarding methods of p r a c t i c e and among p a t i e n t s with r e s p e c t to t h e i r s i t u a t i o n and reasons ( for seeking g e n e t i c c o u n s e l l i n g are a d d i t i o n a l f a c t o r s that need to be taken i n t o account when measuring the e f f i c a c y of such a complex medical s e r v i c e . Over the past decade, there have been numerous s t u d i e s on the e f f e c t i v e n e s s of g e n e t i c c o u n s e l l i n g (Evers-Kiebooms & van den Berghe, 1979; G r i f f i n , Kavanagh, & Sorenson, 1976, 1977; K e s s l e r , 1980; S h i l o h , Avdor, & Goodman, 1990; Sorenson et a l . , 1981; Wertz & F l e t c h e r , 1988) which demonstrate the d i f f e r e n t approaches used by c o u n s e l l o r s , and, subsequently, the d i f f e r e n t responses of p a t i e n t s to these methods. The b a s i c purpose of g e n e t i c c o u n s e l l i n g i s to provide 7 accurate and a p p r o p r i a t e i n f o r m a t i o n so that i t w i l l f a c i l i t a t e decision-making by the p a t i e n t (Davies, 1983). E a r l y i n v e s t i g a t i o n s i n the e f f e c t i v e n e s s of t h i s process concentrated mostly on the l e v e l of p a t i e n t m e d i c a l - g e n e t i c knowledge p o s t - c o u n s e l l i n g (Evers-Kiebooms & van den Berghe, 1979; G r i f f i n et a l . , 1977; Sorenson et a l . , 1981). The s t u d i e s r e v e a l e d a wide v a r i a b i l i t y i n the knowledge of p a t i e n t s , even when measured immediately a f t e r the c o u n s e l l i n g p r o c e s s . However, because of the r e t r o s p e c t i v e d e s ign used i n these s t u d i e s , t h i s v a r i a t i o n was not c o n c l u s i v e l y due to e f f e c t i v e or i n e f f e c t i v e c o u n s e l l i n g methods. For example, i f p a t i e n t s were i d e n t i f i e d as knowledgeable, t h i s d i d not n e c e s s a r i l y mean that they had a c q u i r e d t h e i r i n f o r m a t i o n i n t h e i r c o u n s e l l i n g s e s s i o n (Sorenson et a l . , 1981). Hence, a l t e r n a t i v e methods of study were used i n order to measure the l e v e l of knowledge more e f f e c t i v e l y and to e s t a b l i s h the reasons f o r d i f f e r e n t i a l r e t e n t i o n of i n f o r m a t i o n by p a t i e n t s . S t u d i e s i n e s t a b l i s h i n g the success i n g e n e t i c c o u n s e l l i n g placed more emphasis on the p a t i e n t s ' p e r s p e c t i v e ( K e s s l e r , 1980; Sorenson et a l . , 1981). In the r e s e a r c h p r e v i o u s l y mentioned, i t was found that the i n f o r m a t i o n provided i n g e n e t i c c o u n s e l l i n g o f t e n had profound p s y c h o l o g i c a l e f f e c t s on those r e c e i v i n g the i n f o r m a t i o n (Abramovsky, Godmilow, Hi r s c h h o r n , & Smith, 1980; Emery, 8 1984; Emery, et a l . , 1979; Evers-Kiebooms & van den Berghe, 1979; K e l t i k a n g a s - J a r v i n e n & A u t i o , 1983; K e s s l e r , 1980; R e i f & B a i t s c h , 1985). By a s s e s s i n g the p a t i e n t ' s needs and reasons f o r g e n e t i c c o u n s e l l i n g , i n a d d i t i o n to knowledge i n m e d i c a l - g e n e t i c i n f o r m a t i o n , a b e t t e r understanding of c r i t e r i a f o r e f f e c t i v e communication can be e s t a b l i s h e d . With t h i s s h i f t i n paradigm, s t u d i e s tended t o focus on the p a t i e n t ' s q u e s t i o n s and concerns before and a f t e r the c o u n s e l l i n g process i n order to assess whether or not t h e i r o b j e c t i v e s were being met i n seeking g e n e t i c c o u n s e l l i n g . Sorenson et a l . (1981) reported that the more time c o u n s e l l o r s spent with p a t i e n t s , the more l i k e l y the p a t i e n t s were to d i s c u s s t h e i r s o c i o - m e d i c a l concerns. T h i s approach allowed f o r more open communication between the c o u n s e l l o r and the p a t i e n t , and, subsequently, a more s u c c e s s f u l c o u n s e l l i n g s e s s i o n . A d d i t i o n a l s t u d i e s on the elements of e f f e c t i v e communication regarding g e n e t i c i n f o r m a t i o n have a l s o been p u b l i s h e d , r e v e a l i n g the importance of both nonverbal and v e r b a l communication f o r e f f e c t i v e g e n e t i c c o u n s e l l i n g (Wertz & F l e t c h e r , 1988; Kurtz & R i c c a r d i , 1979). Kurtz and R i c c a r d i (1979) recognized that while v e r b a l communication was r e s p o n s i b l e f o r t r a n s f e r r i n g and i n t e r p r e t i n g i n f o r m a t i o n to p a t i e n t s , nonverbal communication was s i m u l t a n e o u s l y e s s e n t i a l f o r conveying a t t i t u d e s and emotions. In reviews p u b l i s h e d by Bernhardt (1989) and 9 Sjogren and Marsk (1989), i t was a l s o recommended that c o u n s e l l o r s should determine the p a t i e n t ' s l e v e l of knowledge before the c o u n s e l l i n g begins so that they could educate p a t i e n t s at a l e v e l that the p a t i e n t s could understand. Although i t i s p o s s i b l e t h a t some p a t i e n t s may s t i l l not understand g e n e r a l concepts a f t e r s e v e r a l s e s s i o n s , i t i s n e v e r t h e l e s s the c o u n s e l l o r ' s o b l i g a t i o n to t r y to f i n d ways of communicating t h i s complex i n f o r m a t i o n (Wertz et a l . , 1986). F i n a l l y , Lum (1987) and Keena, Jawanda, and H a l l (1987) s t r e s s e d the importance of an a p p r e c i a t i o n f o r c u l t u r a l b e l i e f s and t r a d i t i o n s when c o u n s e l l i n g p a t i e n t s . C o u n s e l l o r s should be nonjudgemental with res p e c t to r e l i g i o u s and e t h n i c backgrounds, and be empathetic when p r o v i d i n g i n f o r m a t i o n . In summary, the r o l e of the g e n e t i c c o u n s e l l o r i s no longer simply to educate p a t i e n t s , r a t h e r i t i s important to acknowledge and a p p r e c i a t e the p s y c h o s o c i a l needs of the p a t i e n t i n order to communicate the i n f o r m a t i o n e f f e c t i v e l y . In a recent survey of 1,053 medical g e n e t i c i s t s i n 18 n a t i o n s , n e a r l y a l l p a r t i c i p a n t s p r e f e r r e d the n o n - d i r e c t i v e approach to g e n e t i c c o u n s e l l i n g (Wertz & F l e t c h e r , 1988). T h i s r e q u i r e s g e n e t i c c o u n s e l l o r s to concentrate on the p r e s e n t a t i o n of accurate f a c t s i n a manner which f a c i l i t a t e s decision-making by the p a t i e n t (Emery, 1984; F r e t s , 1990; H a r r i s , 1988). In t u r n , p a t i e n t s are thereby helped and supported i n making d e c i s i o n s f o r themselves. Emery (1984) r e f e r r e d to t h i s c h o i c e as an i n d i v i d u a l ' s p r e r o g a t i v e , provided i t i s made i n the f u l l knowledge of a l l the f a c t s and a p p r e c i a t i o n of the p o s s i b l e consequences. In some i n s t a n c e s , p a t i e n t s from d i f f e r e n t c u l t u r e s may expect to be t o l d what to do and may have l i t t l e experience with making t h e i r own d e c i s i o n s ( C z e i z e l , Metneki, & O s z t o v i c s , 1981; Emery, 1984; F a l e k , 1984; Lubs, 1979; Wertz & F l e t c h e r , 1988). In these cases, a n o n - d i r e c t i v e approach may confuse the p a t i e n t more and cause them to make i r r a t i o n a l d e c i s i o n s . Thus, a more " c l i e n t - d i r e c t e d " approach to c o u n s e l l i n g may meet the o b j e c t i v e s i n these s i t u a t i o n s . Pauker and Pauker (1977) and P i t z (1987) have e s t a b l i s h e d methods f o r d i r e c t i v e g e n e t i c c o u n s e l l i n g using d e c i s i o n a n a l y s i s . The models d e s c r i b e d by both research groups i n v o l v e d e c i s i o n - a i d i n g t e c h n o l o g i e s . In g e n e r a l , p a t i e n t s are a s s i s t e d i n f i r s t l y , d e f i n i n g t h e i r g e n e t i c problem, and secondly, e v a l u a t i n g t h e i r s i t u a t i o n by weighing the best outcome a g a i n s t r e l a t i v e c o s t s or burdens of the worst outcome f o r them. Although such approaches are thought to be more s c i e n t i f i c than p e r s o n a l , they are capable of being h e l p f u l f o r p a t i e n t s who have d i f f i c u l t y i n a s s e s s i n g t h e i r own needs independently. Thus, these methods allow c o u n s e l l o r s to help p a t i e n t s i n making d e c i s i o n s f o r themselves, and s t i l l be n o n - d i r e c t i v e i n t h e i r approach. E f f e c t i v e g e n e t i c c o u n s e l l i n g can be accomplished through a v a r i e t y of methods. T h i s assessment can be taken even f u r t h e r by using these same measures to compare the e f f e c t i v e n e s s of v a r i o u s sources of i n f o r m a t i o n . For in s t a n c e , depending on the h e a l t h care system, p a t i e n t s may r e c e i v e g e n e t i c c o u n s e l l i n g f o r p r e n a t a l d i a g n o s i s from e i t h e r t h e i r primary care p h y s i c i a n (family p h y s i c i a n or o b s t e t r i c i a n ) or by a medical g e n e t i c i s t and/or g e n e t i c c o u n s e l l o r . S t u d i e s have been p u b l i s h e d which review the g e n e t i c c o u n s e l l i n g o f f e r e d by these two means i n order to determine the c o s t - e f f e c t i v e n e s s . In 1980, Lippman-Hand and Cohen repo r t e d on the underuse of amniocentesis f o r p r e n a t a l d i a g n o s i s . I t was suggested that o b s t e t r i c i a n s ' lack of knowledge or negative a t t i t u d e concerning p r e n a t a l d i a g n o s i s was p r e v e n t i n g them from r e f e r r i n g e l i g i b l e women. In t h i s r e s p e c t , the p h y s i c i a n s would be making d e c i s i o n s f o r the p a t i e n t , demonstrating c o u n s e l l i n g methods c o n t r a r y to the usu a l procedure used among medical g e n e t i c i s t s . T h i s trend was a l s o observed by Fahy and Lippman (1988) through the Canadian c o l l a b o r a t i v e randomized t r i a l of C.V.S. In t h i s study, the o b s t e t r i c i a n s f e l t that they should be d i r e c t i v e and advise e l i g i b l e women to have p r e n a t a l d i a g n o s i s . Although the a t t i t u d e had changed from opposing p r e n a t a l d i a g n o s i s to promoting i t , the approach taken by o b s t e t r i c i a n s i n c o u n s e l l i n g p a t i e n t s s t i l l emphasized i n f l u e n c e and d i r e c t i o n i n s t e a d of autonomy and support. F i n a l l y , recent reviews by S h i l o h et a l . (1990) and Sjogren and Marsk (1989) reported that p a t i e n t s who r e c e i v e d c o u n s e l l i n g by medical g e n e t i c i s t s or g e n e t i c c o u n s e l l o r s were l e s s s a t i s f i e d with the in f o r m a t i o n g i v e n to them than p a t i e n t s who r e c e i v e d i n f o r m a t i o n regarding non-genetic problems from v a r i o u s medical sources. Since a p l a u s i b l e measure of e f f e c t i v e n e s s i n g e n e t i c c o u n s e l l i n g or any other medical s e r v i c e i s through p a t i e n t s a t i s f a c t i o n with the s e r v i c e s p r o v i d e d , t h i s r e s u l t was i n i t i a l l y d i s t u r b i n g to g e n e t i c p h y s i c i a n s and c o u n s e l l o r s . However, S h i l o h et a l . (1990) e x p l a i n e d that these r e s u l t s d i d not n e c e s s a r i l y mean that g e n e t i c c o u n s e l l i n g was l e s s s a t i s f y i n g than other medical s e r v i c e s because there are many f a c t o r s i n v o l v e d i n p a t i e n t s a t i s f a c t i o n . For example, p a t i e n t s who are r e f e r r e d f o r g e n e t i c purposes tend to r e l a t e more to what i s provided i n g e n e t i c c o u n s e l l i n g r a t h e r than how i t i s pro v i d e d ( S h i l o h et a l . , 1990). Thus, once again, an assessment of the e f f e c t i v e n e s s of g e n e t i c c o u n s e l l i n g depends on the p a t i e n t ' s s i t u a t i o n and how the s e r v i c e meets the o b j e c t i v e s of both i t s r e c i p i e n t s and p r o v i d e r s . 13 Chapter Two Knowledge and P e r c e p t i o n of Information Regarding P r e n a t a l Diagnosis Knowledge i s a p r e r e q u i s i t e f o r making informed d e c i s i o n s about any of the p r e n a t a l t e s t s c u r r e n t l y being o f f e r e d to women of advanced maternal age. There i s evidence i n the l i t e r a t u r e which demonstrates a l a r g e gap between what should be accomplished e d u c a t i o n a l l y i n g e n e t i c c o u n s e l l i n g and what, i n f a c t , i s being accomplished (Evers-Kiebooms & van den Berghe, 1979; G r i f f i n et a l . , 1977; K e l t i k a n g a s -J a r v i n e n & A u t i o , 1983; K e s s l e r , 1990; Lippman-Hand & F r a s e r , 1979; S e i d e n f e l d & A n t l e y , 1981; Somer et a l . , 1988; Sorenson et a l . , 1981). For example, the percentage of p a t i e n t s capable of demonstrating an adequate understanding of the g e n e t i c i n f o r m a t i o n p o s t - c o u n s e l l i n g and subsequently able to p r o v i d e informed consent v a r i e s . Many t h e o r i e s f o r t h i s lack of knowledge have evolved from these o b s e r v a t i o n s , f o c u s i n g on e i t h e r the c o u n s e l l o r ' s or the p a t i e n t ' s p e r s p e c t i v e . The g o a l of the consent process i n any medical s e r v i c e i s p r o v i d i n g a mechanism f o r p a t i e n t s to p a r t i c i p a t e i n decision-making with f u l l understanding of the f a c t o r s r e l e v a n t to t h e i r proposed care ( C a s s i l e t h et a l . , 1980). St u d i e s on whether or not t h i s goal i s accomplished i n s e r v i c e s other than g e n e t i c c o u n s e l l i n g have r e v e a l e d that p a t i e n t s are f r e q u e n t l y unable to r e c a l l s p e c i f i c i n f o r m a t i o n given to them even a f t e r e x t r a o r d i n a r y e f f o r t s are made to prov i d e complete i n f o r m a t i o n and to ensure t h e i r understanding ( E p s t e i n & Lasagna, 1969; S c h u l t z , 1975; Stewart, 1977). T h i s appears to be true r e g a r d l e s s of the amount of i n f o r m a t i o n d e l i v e r e d , the manner i n which i t i s presented, or the type of medical procedure i n v o l v e d . One ex p l a n a t i o n f o r poor knowledge among p a t i e n t s i s the technique of those p r o v i d i n g the i n f o r m a t i o n to p a t i e n t s ( K e s s l e r , 1990; Sorenson et a l . , 1981). Although medical g e n e t i c i s t s or f a m i l y p h y s i c i a n s / o b s t e t r i c i a n s are most o f t e n w e l l - t r a i n e d and knowledgeable i n t h e i r f i e l d , they may not be e s p e c i a l l y s k i l l e d i n t r a n s m i t t i n g the i n f o r m a t i o n at a l e v e l that the g e n e r a l p u b l i c can understand. In a recent review p u b l i s h e d by K e s s l e r (1990), i t was suggested that perhaps c o u n s e l l i n g s e r v i c e s of l a t e have reached a p l a t e a u i n t h e i r a b i l i t y to educate, and that any i n c r e a s e i n the e f f e c t i v e n e s s of g e n e t i c c o u n s e l l i n g w i l l come onl y from p a t i e n t s i n t h e i r attempt to understand the i n f o r m a t i o n presented to them and from c o u n s e l l o r s wishing to a s s i s t t h e i r p a t i e n t s i n making informed d e c i s i o n s regarding p r e n a t a l d i a g n o s i s . The most common e x p l a n a t i o n f o r p a t i e n t s ' lack of knowledge p o s t - c o u n s e l l i n g has been a t t r i b u t e d to the p a t i e n t s themselves. I t has p r e v i o u s l y been mentioned that when measuring the e f f e c t i v e n e s s of g e n e t i c c o u n s e l l i n g 15 through p a t i e n t r e t e n t i o n of i n f o r m a t i o n , many c o n s i d e r a t i o n s should be taken i n t o account. F i r s t of a l l , there i s the p o s s i b i l i t y that p a t i e n t s were never given the i n f o r m a t i o n , or a l t e r n a t i v e l y , t h a t they had been given the i n f o r m a t i o n but f a i l e d to understand i t and subsequently r e t a i n or reproduce i t (Hsia & S i l v e r b e r g , 1973; Marteau et a l . , 1988). Furthermore, i n assessments such as t h i s , i t i s o f t e n very d i f f i c u l t to d i s t i n g u i s h between p a t i e n t s ' understanding and remembering of g e n e t i c i n f o r m a t i o n (Evers-Kiebooms & van den Berghe, 1979). For example, i f the i n f o r m a t i o n p a t i e n t s reproduce i s i n c o r r e c t , i t i s not always c e r t a i n i f t h i s i s due to inadequate understanding d u r i n g the c o u n s e l l i n g s e s s i o n or due to a f a i l u r e of memory. F i n a l l y , p a t i e n t s may very w e l l have understood the i n f o r m a t i o n , but f a i l e d to produce i t f o r c o g n i t i v e or emotional reasons (Bernhardt, 1989; G r i f f i n et a l . , 1977; Marteau et a l . , 1988; S h i l o h et a l . , 1990; Somer et a l . , 1988; Sorenson et a l . , 1981). T h i s l a t t e r e x p l a n a t i o n has been reported as the most l i k e l y cause for p a t i e n t s ' lack of knowledge p o s t - c o u n s e l l i n g . An a p p r e c i a t i o n of a p a t i e n t ' s background i s e s s e n t i a l i n e f f e c t i v e g e n e t i c c o u n s e l l i n g (Bernhardt, 1989; Davies & Doran, 1982; S h i l o h et a l . , 1990). S t u d i e s i n measuring r e c a l l of i n f o r m a t i o n by d i f f e r e n t study groups observed a c o r r e l a t i o n between the p a t i e n t s ' l e v e l of education and how informed they were a f t e r c o u n s e l l i n g (Davies, 1983; Emery et a l . , 1973; G r i f f i n , 1977; K e s s l e r , 1990; Wertz et a l . , 1986). I t was o f t e n observed that well-educated p a t i e n t s were more informed p o s t - c o u n s e l l i n g than less-educated p a t i e n t s , p o s s i b l y due to having seen the i n f o r m a t i o n d u r i n g t h e i r s c h o o l i n g or simply because they were used to d e a l i n g with p r o b a b i l i t i e s and c o u l d assess new estimates with ease. Another f a c t o r that can be a t t r i b u t e d to v a r i a t i o n i n r e c a l l of i n f o r m a t i o n i s r e l a t e d to the manner i n which the i n f o r m a t i o n i s p r o v i d e d . For example, most people are not accustomed to making d e c i s i o n s about t h e i r p e r s o n a l l i v e s in terms of p r o b a b i l i t i e s . I t i s p o s s i b l e that p a t i e n t s who had a poor r e c a l l of the i n f o r m a t i o n had, i n f a c t , been given t h e i r r i s k s and remembered them at the time of study measurement. However, the form i n which the p a t i e n t s understood the i n f o r m a t i o n was not the same as that which was a c q u i r e d ( G r i f f i n et a l . , 1977; K e s s l e r , 1990; Lippman-Hand & F r a s e r , 1979). P a t i e n t s w i l l o f t e n t r a n s f o r m t h e i r r i s k estimates i n t o a more p e r s o n a l meaning. In c o n c l u s i o n , i t i s c l e a r from s t u d i e s i n g e n e t i c c o u n s e l l i n g that people w i l l widely d i f f e r i n t h e i r a t t i t u d e to r i s k . Some may put great e f f o r t i n t o understanding and weighing the p r o b a b i l i t i e s to make the c o r r e c t d e c i s i o n f o r t h e i r l i f e s i t u a t i o n . Others may not pay any a t t e n t i o n at a l l to the i n f o r m a t i o n g i v e n , except f o r the f a c t t h a t they are "at r i s k " and w i l l , t h e r e f o r e , r e a c t to t h i s f a c t a p p r o p r i a t e l y f o r them. In a study p u b l i s h e d by E l k i n s et a l . , (1986), a vast m a j o r i t y of women who r e c e i v e d c o u n s e l l i n g f o r Down's syndrome f e l t that d i s c u s s i o n s i n c l u d i n g only r i s k i n f o r m a t i o n were not a p p r o p r i a t e , and that g e n e t i c c o u n s e l l o r s should concentrate more on women's pe r s o n a l r e a c t i o n s and f e e l i n g s about t h e i r s i t u a t i o n . In 1990, K e s s l e r p u b l i s h e d a review of the l i t e r a t u r e with respect to p a t i e n t education i n g e n e t i c c o u n s e l l i n g and suggested that perhaps p r e c i s e r e c a l l of f a c t u a l i n f o r m a t i o n i s not always necessary f o r informed consent. From the s t u d i e s on p a t i e n t r e t e n t i o n of in f o r m a t i o n and a t t i t u d e towards the g e n e t i c c o u n s e l l i n g process, i t appears that the p r e r e q u i s i t e to informed consent may be knowledge expressed e i t h e r i n q u a n t i t a t i v e or q u a l i t a t i v e terms. Chapter Three F a c t o r s Involved i n the Decision-Making  Process Regarding P r e n a t a l D i a g n o s i s There are a mul t i t u d e of f a c t o r s a f f e c t i n g p r o s p e c t i v e parents' decision-making i n p r e n a t a l d i a g n o s i s . The d e c i s i o n w i l l vary depending on the woman's background and p e r c e p t i o n of a s s o c i a t e d r i s k s . There has been much resea r c h on i d e n t i f y i n g the many v a r i a b l e s i n v o l v e d so that g e n e t i c c o u n s e l l o r s may a s s i s t p a t i e n t s more e f f e c t i v e l y i n making informed d e c i s i o n s r e g a r d i n g p r e n a t a l d i a g n o s i s . The b a s i c process i n making a d e c i s i o n i s d e s c r i b e d as the i n t e g r a t i o n of the r e l e v a n t f a c t s f o r a p a r t i c u l a r d e c i s i o n and the values of the decision-maker (Antley, 1979; Pauker & Pauker, 1987; P i t z , 1987). T h i s process can be a p p l i e d to any d e c i s i o n , but i s of p a r t i c u l a r use to the d e c i s i o n of whether or not to have p r e n a t a l d i a g n o s i s . Another approach to t h i s process i s based on a model of decision-making under r i s k . Tversky and Kahneman (1974) and Pearn (1973) d e s c r i b e t h i s process as e s t a b l i s h i n g , f i r s t l y , the d e s i r a b i l i t y of the outcome to the i n d i v i d u a l ( s ) , and secondly, the p e r c e i v e d l i k e l i h o o d of the d e s i r a b l e r e s u l t o c c u r r i n g . Although i t i s u l t i m a t e l y the p a t i e n t who makes the d e c i s i o n of whether or not to have p r e n a t a l d i a g n o s i s , g e n e t i c c o u n s e l l o r s can a s s i s t i n understanding the opt i o n s a v a i l a b l e and the i m p l i c a t i o n s of having a p r e n a t a l t e s t . 19 T h e r e f o r e , knowledge of the f a c t o r s i n v o l v e d i n a woman's d e c i s i o n to have p r e n a t a l d i a g n o s i s i s c r u c i a l i n p r o v i d i n g o p t i m a l g e n e t i c c o u n s e l l i n g . The most important f a c t o r s that women con s i d e r when contemplating having p r e n a t a l d i a g n o s i s are the b e n e f i t s , r i s k s , and l i m i t a t i o n s i n v o l v e d with having a procedure (Davies & Doran, 1982; K e s s l e r , 1990). The most common advantage i d e n t i f i e d by women i n v a r i o u s s t u d i e s i s the reassurance that the baby does not have a s p e c i f i c d i s o r d e r (Davies & Doran, 1982; F l e t c h e r , 1973; Murray, Chamberlain, F l e t c h e r , Hopkins, Jackson, King, & Powledge, 1980). Women who b e l i e v e t h a t they are at r i s k may choose to have p r e n a t a l d i a g n o s i s to r e l i e v e t h e i r a n x i e t y . Other b e n e f i t s i n c l u d e p r o v i d i n g v a l u a b l e i n f o r m a t i o n about the f e t u s so th a t the mother and her primary care p r o v i d e r can prepare f o r optimal b i r t h care or parents who choose to c a r r y an a f f e c t e d f e t u s to term can make a p p r o p r i a t e p r e p a r a t i o n s , e.g., e m o t i o n a l l y and f i n a n c i a l l y (Murray et a l . , 1980). F i n a l l y , parents who choose not to c a r r y an a f f e c t e d f e t u s to term have the op t i o n to terminate based on the in f o r m a t i o n provided through p r e n a t a l d i a g n o s i s . There a l s o e x i s t s e v e r a l l i m i t a t i o n s to having p r e n a t a l d i a g n o s i s . A common concern expressed by women rega r d i n g p r e n a t a l t e s t i n g i s the p o s s i b i l i t y of c o m p l i c a t i o n s from the procedure (Davies & Doran, 1982; Sjogren & Uddenberg, 1989). 20 Even though women want to know i f the baby i s abnormal, some are not w i l l i n g to r i s k i n j u r i n g the f e t u s to r e l i e v e t h e i r a n x i e t y i n knowing t h a t i t i s normal (Davies, 1983). Another l i m i t a t i o n of p r e n a t a l d i a g n o s i s that needs to be w e l l -understood by parents i s that t e s t i n g i s onl y s p e c i f i c to the d i s o r d e r s i n q u e s t i o n , and cannot guarantee a h e a l t h y baby (Davies, 1983). Many other c o n g e n i t a l anomalies can occur i n newborns as w e l l as problems which may develop l a t e r on i n chi l d h o o d that cannot be detected by p r e n a t a l d i a g n o s i s ( G r i f f i n et a l . , 1977; Simpson et a l . , 1976). Perhaps the most b a s i c element i n a woman's d e c i s i o n whether to have p r e n a t a l d i a g n o s i s i s her p e r c e i v e d s u s c e p t i b i l i t y to having a g e n e t i c a l l y abnormal baby (Davies, 1983). Although the numerical r i s k of having a baby with a chromosomal abnormality i n c r e a s e s with age, women's p e r c e p t i o n of r i s k i s known to vary markedly among i n d i v i d u a l s (Davies, 1983; F r e t s , Duivenvoorden, Verhage, Peters-Romeyn, & N i e r m e i j e r , 1991; G r i f f i n et a l . , 1977; Lippman-Hand & F r a s e r , 1979; S i s s i n e et a l . , 1981; Somer et a l . , 1988; Sorenson et a l . , 1981; Wertz et a l . , 1986). In 1979, Lippman-Hand and F r a s e r p u b l i s h e d an important study which.reviewed p a t i e n t s ' r e c e p t i o n of i n f o r m a t i o n presented to them i n g e n e t i c c o u n s e l l i n g . I t was observed through t h e i r i n t e r v i e w s with p a t i e n t s that although the r i s k of having a c h i l d with a g e n e t i c d e f e c t i s given by the c o u n s e l l o r i n terms of a percentage, the outcome of t h i s value f o r the p a t i e n t i s b i n a r y : the c h i l d e i t h e r w i l l or w i l l not be normal. Thus, the u n c e r t a i n t y concerning the a c t u a l outcome of the pregnancy i s what parents are most concerned about, and i s o f t e n weighed more h e a v i l y than t h e i r numerical r i s k estimate (Antley, 1979; G r i f f i n et a l . , 1977; Lippman-Hand & F r a s e r , 1979; Pearn, 1973; Wertz et a l . , 1986). I n t e r p r e t a t i o n of g e n e t i c r i s k s have a l s o been shown to be i n f l u e n c e d by p e r s o n a l i t y t r a i t s and past experiences (Pearn, 1973; Sorenson et a l . , 1981; Wertz et a l . , 1986). S e v e r a l s t u d i e s suggest that p a t i e n t s come to c o u n s e l l i n g with c e r t a i n a t t i t u d e s or b e l i e f s about a problem or d i s o r d e r which may or may not change p o s t - c o u n s e l l i n g . For the most p a r t , p a t i e n t s leave the c o u n s e l l i n g s e s s i o n with a lower p e r c e i v e d r i s k estimate than what they had expected. Nonetheless, the higher the r i s k a c l i e n t b e l i e v e d was i n v o l v e d , the l e s s l i k e l y she was to have learned the a c t u a l r i s k as given by the c o u n s e l l o r and the g r e a t e r the tendency to experience the decision-making process as d i f f i c u l t (Abramovsky et a l . , 1980; F r e t s et a l . , 1991; Pearn, 1973; Sorenson et a l . , 1981; Wertz et a l . , 1984). Wertz et a l . (1986) a l s o found that most p a t i e n t s tended to overestimate n u m e r i c a l l y s m a l l e r r i s k s , and a l t e r n a t i v e l y , to underestimate n u m e r i c a l l y l a r g e r r i s k s . In any event, the p a t i e n t ' s f i n a l d e c i s i o n regarding p r e n a t a l d i a g n o s i s i s 22 u s u a l l y based on her own p e r s o n a l r i s k i n t e r p r e t a t i o n and ex p e c t a t i o n s about the normalcy of the c h i l d r a t her than on the numerical r i s k a l o n e . Other f a c t o r s which c o n t r i b u t e to a woman's p e r c e p t i o n of r i s k and the d e c i s i o n to have p r e n a t a l t e s t i n g i n v o l v e the s e v e r i t y or the burden of the d i s o r d e r i n q u e s t i o n . In Pearn's (1973) e a r l y s t u d i e s on p a t i e n t s ' s u b j e c t i v e i n t e r p r e t a t i o n s of r i s k s o f f e r e d i n g e n e t i c c o u n s e l l i n g , i t was found that the nature of the outcome was the most obvious f a c t o r i n f l u e n c i n g the p a t i e n t ' s p e r c e p t i o n of odds. The decision-making process was b e l i e v e d to i n v o l v e : (a) a pe r s o n a l view or understanding of the d i s o r d e r , and (b) a s u b j e c t i v e i n t e r p r e t a t i o n of the a s s o c i a t e d r i s k g i v e n for the d i s o r d e r ( s ) . In a recent study of Drugan et a l . (1990), i t was found that the s e v e r i t y of the chromosomal anomaly was one of the major determinants i n p a r e n t a l decision-making; sex chromosome anomalies were f e l t to be l e s s severe than autosomal chromosome anomalies. The i n f l u e n c e of past experience or f a m i l i a r i t y with a p a r t i c u l a r d i s o r d e r may a l s o p lay a r o l e i n the decision-making p r o c e s s . F r e q u e n t l y , p a t i e n t s have seen c h i l d r e n with the d i s o r d e r i n q u e s t i o n and understand the i m p l i c a t i o n s of having such a c h i l d themselves. Some may f e e l t h a t they could cope w e l l with an a f f e c t e d c h i l d , while others may be more concerned about the pe r c e i v e d burdens of having such a c h i l d . Examples of such 23 burdens i n c l u d e the e f f e c t on t h e i r p e r s o n a l and f a m i l y l i f e , the woman's p r o f e s s i o n a l l i f e , the demands from s o c i e t y , or f i n a n c i a l commitments (Davies & Doran, 1982; Pearn, 1973). In summary, p a t i e n t s ' p e r c e p t i o n of r i s k estimates w i l l h i g h l y depend on t h e i r p e r c e p t i o n of what they are t a k i n g a r i s k f o r . P a t i e n t a t t i t u d e s towards t h e i r pregnancy may a l s o p l a y a s i g n i f i c a n t r o l e i n the d e c i s i o n regarding p r e n a t a l t e s t i n g . The d e s i r e f o r c h i l d r e n , and, i n p a r t i c u l a r , h e a l t h y c h i l d r e n , i s a b a s i c human c h a r a c t e r i s t i c which i s dependent upon p e r s o n a l and c u l t u r a l circumstances ( F r e t s & N i e r m e i j e r , 1990; Lum, 1987; Murray et a l . , 1980; Pearn, 1973; S i s s i n e et a l . , 1981; Thomassen-Brepols, 1987). For example, parents may so d e s p e r a t e l y want a l i v i n g c h i l d of t h e i r own a f t e r having l o s t s e v e r a l c h i l d r e n from a g e n e t i c d i s e a s e that they w i l l continue to t r y with the reassurance that p r e n a t a l d i a g n o s i s i s a v a i l a b l e to them. In these cases, parents are more concerned f o r the h e a l t h or q u a l i t y of t h e i r c h i l d r e n , and may s a c r i f i c e q u a n t i t y to achieve q u a l i t y through the use of p r e n a t a l d i a g n o s i s (Roghmann & Doherty, 1983). F i n a l l y , p a t i e n t s may p e r c e i v e the b e n e f i t s and r i s k s d i f f e r e n t l y depending upon whether a pregnancy was planned or not (Davies, 1983). Therefore, a p a t i e n t ' s m o t i v a t i o n with r e s p e c t to her pregnancy i s an a d d i t i o n a l f a c t o r which c o u n s e l l o r s should explore i n h e l p i n g p a t i e n t s 24 to make d e c i s i o n s r e g a r d i n g p r e n a t a l d i a g n o s i s . In c o n c l u s i o n , the f a c t o r s d i s c u s s e d thus f a r have been i d e n t i f i e d as the most r e l e v a n t components of a woman's d e c i s i o n r e g a r d i n g p r e n a t a l d i a g n o s i s , or more s p e c i f i c a l l y , i n the d e c i s i o n to have p r e n a t a l t e s t i n g . A d d i t i o n a l f a c t o r s such as p a r e n t a l age, e t h n i c and e d u c a t i o n a l background, or economic s t a t u s have a l s o been demonstrated as having p o t e n t i a l to i n f l u e n c e a woman's d e c i s i o n (Davies, 1983; Verp, Bombard, Simpson, & E l i a s , 1988; Wertz & Sorenson, 1986). P r e n a t a l d i a g n o s i s i s sometimes looked upon as i n v o l v i n g two d e c i s i o n s ; the f i r s t one i s whether or not to have a p r e n a t a l d i a g n o s t i c procedure, and the second one i s what to do i n the event of an abnormal r e s u l t . According to the N a t i o n a l Research C o u n c i l (1975) and v a r i o u s c e n t e r s o f f e r i n g p r e n a t a l g e n e t i c c o u n s e l l i n g ( F l e t c h e r , 1973; Sjogren & Uddenberg, 1988; Somer et a l . , 1988), these two d e c i s i o n s are separate. The only p r e r e q u i s i t e to p r e n a t a l d i a g n o s i s may be an informed d e c i s i o n regarding p r e n a t a l t e s t i n g , and not a commitment regarding a p a r t i c u l a r a c t i o n i f r e s u l t s show abnormality. 25 Chapter Four Emotional Responses t o P r e n a t a l D i a g n o s i s When p r e n a t a l d i a g n o s i s was f i r s t recognized as a r a p i d l y expanding component of r o u t i n e o b s t e t r i c care, e f f o r t s were made to assess the e f f i c a c y and s a f e t y of f i r s t and second t r i m e s t e r d i a g n o s t i c methods. S t u d i e s on the e f f e c t i v e n e s s of g e n e t i c c o u n s e l l i n g f o r these procedures from the p a t i e n t ' s p e r s p e c t i v e demonstrated the n e c e s s i t y f o r addressing the emotional i s s u e s i n v o l v e d with having a procedure as w e l l . I t has been acknowledged that i n the maj o r i t y of i n s t a n c e s , emotional d i s t u r b a n c e i s a normal, ra t h e r than a p a t h o l o g i c a l , response to pregnancy (Blumberg, 1984). Pregnancy c o n f r o n t s women with new emotions and adjustments, and more o f t e n than not induces p e r i o d s of u n c e r t a i n t y and fe a r of f e t a l i n j u r y or d e f e c t . Women having p r e n a t a l d i a g n o s i s comprise a s p e c i a l group of pregnant women because they are undergoing a procedure due to an i n c r e a s e d r i s k f o r g i v i n g b i r t h to a c h i l d with a g e n e t i c anomaly (Beeson & Golbus, 1979; Blumberg, 1984; Evers-Kiebooms, 1988; Robinson, Tennes, & Robinson, 1975; Sjogren & Uddenberg, 1990; T u n i s , 1990). Through s t u d i e s on the emotional i m p l i c a t i o n s of p r e n a t a l d i a g n o s i s , the n e c e s s i t y of p s y c h o l o g i c a l c o u n s e l l i n g d u r i n g the p r e n a t a l d i a g n o s t i c process i s apparent. Genetic c o u n s e l l i n g d e a l s with problems which are more 26 s t r e s s f u l than many medical problems ( S c h i l d , 1984). The i n f o r m a t i o n which i s t r a n s m i t t e d on r i s k f a c t o r s regarding g e n e t i c d i s o r d e r s and p r e n a t a l d i a g n o s t i c procedures i s o f t e n c o n s i d e r e d very complex and d i f f i c u l t to understand even f o r i n d i v i d u a l s i n l e s s s t r e s s f u l s i t u a t i o n s . T h e r e f o r e , unless g e n e t i c c o u n s e l l o r s pay c l o s e a t t e n t i o n to the emotional impact p r e n a t a l d i a g n o s i s p l a c e s on p a t i e n t s , i t i s l i k e l y t h a t l e a r n i n g and understanding w i l l be compromised (S h i l o h et a l . , 1990) . Studies comparing g e n e r a l p a t t e r n s of mood s t a t e s i n pregnant women r e v e a l a c h a r a c t e r i s t i c U-shaped p a t t e r n r e f l e c t i n g i n c r e a s e s i n a n x i e t y i n the f i r s t and t h i r d t r i m e s t e r s and a decrease o c c u r r i n g i n the second t r i m e s t e r (Lubin, Gardener, & Roth, 1975; Tunis et a l . , 1990). When these assessments were made on women undergoing p r e n a t a l d i a g n o s i s , the extremes and shapes of the r e l a t i v e mood s t a t e p a t t e r n s changed s i g n i f i c a n t l y , r e v e a l i n g d i f f e r e n t times and l e v e l s of an x i e t y (Tunis et a l . , 1990). S e v e r a l r e s e a r c h e r s have repo r t e d a d d i t i o n a l sources of an x i e t y r e g a r d i n g the a c t u a l d i a g n o s t i c procedure. For example, the e x p e c t a t i o n of the t e s t i t s e l f has been shown to cause much d i s t r e s s due to the f e a r of promoting damage or m i s c a r r i a g e of the f e t u s , or due to the fe a r of the p a i n of the procedure (Beeson & Golbus, 1979; S i l v e s t r e & Fresco, 1980). Subsequently, w a i t i n g f o r the t e s t r e s u l t i s a l s o a major c o n t r i b u t o r of 27 i n c r e a s e d a n x i e t y f o r a l l women having p r e n a t a l d i a g n o s i s , r e g a r d l e s s of the method used (Beeson & Golbus, 1979; Blumberg, 1984; Robinson et a l . , 1988; S i l v e s t r e & Fresc o , 1980; Sjogren & Uddenberg, 1990; Spencer & Cox, 1987; Tunis, et a l . , 1990). From an interview-based study on r e a c t i o n s to p r e n a t a l d i a g n o s i s ( S i l v e s t r e & F r e s c o , 1980), i t was found that the m a j o r i t y of women undergoing amniocentesis i n d i c a t e d that the attachment to the c h i l d began only a f t e r the t e s t r e s u l t s were known. T h i s statement confirms the p r e v i o u s o b s e r v a t i o n s that p r e n a t a l d i a g n o s i s i s a s s o c i a t e d with a wide spectrum of emotional responses by women which need t o be recognized f o r e f f e c t i v e g e n e t i c c o u n s e l l i n g (Sjogren & Uddenberg, 1990; Sorenson et a l . , 1981). Many resea r c h groups have compared the anxiety experienced by women having p r e n a t a l d i a g n o s i s (Beeson & Golbus, 1979; Evers-Kiebooms, Swerts, & van den Berghe, 1988; Sjogren & Marsk, 1989; Sjogren & Uddenberg, 1990; Tunis et a l . , 1990). The g e n e r a l consensus among a l l reviews i s that women having p r e n a t a l d i a g n o s i s f o r advanced maternal age (AMA) only are l e s s anxious than those whose i n d i c a t i o n s i n v o l v e a p e r s o n a l or f a m i l y h i s t o r y of a g e n e t i c d i s o r d e r . In a review p u b l i s h e d by Sjogren and Marsk (1989), based on women's experiences with p r e n a t a l g e n e t i c c o u n s e l l i n g , i t was found that AMA women were more content with the i n f o r m a t i o n they r e c e i v e d i n c o u n s e l l i n g than p a t i e n t s who r e c e i v e d 28 c o u n s e l l i n g due to a g e n e t i c problem. T h i s suggested that women who are c o u n s e l l e d because of a known g e n e t i c d i s o r d e r may r e q u i r e more s p e c i a l i z e d c o u n s e l l i n g . Furthermore, i t has a l s o been suggested that the e l e v a t e d l e v e l s of p e r s o n a l s t r e s s and an x i e t y experienced by p a t i e n t s with g e n e t i c problems may reduce t h e i r tendency to take r i s k s (Pearn, 1973). T h e r e f o r e , fewer women may have p r e n a t a l d i a g n o s i s f o r g e n e t i c reasons p o s t - c o u n s e l l i n g i n comparison to women who are e l i g i b l e f o r age reasons o n l y . F i n a l l y , although i t has been recommended that a n x i e t y i t s e l f should not be a reason f o r p r e n a t a l d i a g n o s i s ( M i c h e l a c c i et a l . , 1984), Sjogren and Uddenberg (1990) suggest that a p a t i e n t ' s p s y c h o l o g i c a l response and i n t e r p r e t a t i o n of her r i s k i n a d d i t i o n to the a c t u a l s t a t i s t i c a l r i s k estimate should be the d e c i d i n g f a c t o r s f o r e l i g i b i l i t y r e garding p r e n a t a l d i a g n o s i s . In summary, through an awareness of the va r i o u s emotional experiences of women having p r e n a t a l d i a g n o s i s , g e n e t i c c o u n s e l l o r s should help p a t i e n t s cope with these f e e l i n g s before any d e c i s i o n s regarding p r e n a t a l d i a g n o s i s can be made. With the r e l a t i v e l y recent a v a i l a b i l i t y of a f i r s t t r i m e s t e r method f o r p r e n a t a l d i a g n o s i s , s t u d i e s have been c a r r i e d out to determine which method, amniocentesis or c h o r i o n i c v i l l u s sampling (CVS), was considered the more d e s i r a b l e a l t e r n a t i v e f o r women (Robinson et a l . , 1988; Sjogren & Marsk, 1989; Sjogren & Uddenberg, 1988, 1989; Spencer & Cox, 1987, 1988; Tunis et a l . , 1990). Although amniocentesis has been the method of p r a c t i c e f o r many yea r s , the advent of CVS o f f e r s s e v e r a l advantages that amniocentesis cannot. F i r s t of a l l , the e a r l i e r sampling time (9-12 weeks g e s t a t i o n a l age) i n the f i r s t t r i m e s t e r , rather than the second t r i m e s t e r f o r amniocentesis (15-17 weeks g e s t a t i o n a l age), makes i t p o s s i b l e to d e t e c t f e t a l a b n o r m a l i t i e s much e a r l i e r i n the pregnancy. T h i s f a c t o r i s considered a ppealing s i n c e the e n t i r e t e s t i n g p e r i o d takes p l a c e before f e t a l movement and s i g n i f i c a n t maternal attachment to the baby (Robinson et a l . , 1988; Sjogren & Uddenberg, 1989; Spencer & Cox, 1987, 1988). For those women who choose to terminate an abnormal pregnancy, the emotional d i s t r e s s caused by the l o s s of the c h i l d and the procedure f o r t e r m i n a t i o n may not be as great as f o r those women who terminate a f t e r amniocentesis (Robinson et a l . , 1988; Spencer & Cox, 1987). Secondly, the w a i t i n g time f o r r e s u l t s a f t e r CVS i s u s u a l l y one week, i n comparison to three weeks a f t e r amniocentesis ( a c t u a l w a i t i n g p e r i o d s w i l l vary among c e n t e r s ) . T h i s f a c t o r suggests an e a r l i e r r e d u c t i o n i n anx i e t y f o r CVS p a t i e n t s (Robinson et a l . , 1988; Sjogren & Uddenberg, 1989; Spencer & Cox, 1987). D e s p i t e the obvious b e n e f i t s of CVS, there a l s o e x i s t s e v e r a l disadvantages to t h i s procedure. Due to the 30 r e l a t i v e l y recent development of t h i s technique, the r i s k s of CVS due to t e c h n i c a l d i f f i c u l t y i n c a r r y i n g out the procedure and p o s s i b l e m i s c a r r i a g e a f t e r the procedure were o r i g i n a l l y g r e a t e r (1-2%) than what was reported f o r amniocentesis (<0.5%) (Robinson, 1988; Spencer & Cox, 1987). However, s i n c e then, r e p o r t s from the Canadian (Canadian C o l l a b o r a t i v e CVS-Amniocentesis C l i n i c a l T r i a l Group, 1989) and American (Rhoads et a l . , 1989) randomized t r i a l s comparing amniocentesis and CVS showed that although a s l i g h t l y higher r i s k of procedure f a i l u r e and f e t a l l o s s may e x i s t f o r CVS, the t o t a l l o s s r a t e s were not s i g n i f i c a n t l y d i f f e r e n t . In c o n c l u s i o n , i t i s d i f f i c u l t to compare the emotional impacts of the two most commonly used p r e n a t a l d i a g n o s t i c procedures. N e v e r t h e l e s s , s t u d i e s that do compare the two methods share at l e a s t one o b s e r v a t i o n i n common, which i s that p r e n a t a l d i a g n o s i s induces a spectrum of emotions i n i t s p a r t i c i p a n t s . The emotional trauma inherent i n p r e n a t a l d i a g n o s i s has caused some concern about the use of these procedures (Blumberg, 1984; C l a r k & DeVore, 1989; Karp, 1981). However, the a l t e r n a t i v e to the knowledge that p r e n a t a l d i a g n o s i s p r o v i d e s i s a s s o c i a t e d with even more severe emotional trauma (Blumberg, 1984; Sjogren & Uddenberg, 1987). In research regarding p a r t i c i p a n t s ' r e a c t i o n s to p r e n a t a l d i a g n o s i s i n g e n e r a l , the m a j o r i t y of women recognize i t as a p o s i t i v e and worthwhile experience (Blumberg, 1984; Evers-Kiebooms et a l . , 1988; Finley, Varner, Vinson, & Finley, 1977; Sjogren & Uddenberg, 1988, 1989; Tunis et a l . , 1990) . 32 Conclus ion There are many i s s u e s that must be taken i n t o account when c o u n s e l l i n g p a t i e n t s with d i f f e r e n t i n d i c a t i o n s f o r p r e n a t a l d i a g n o s i s . I t has been suggested that through p r o s p e c t i v e study methods, a b e t t e r assessment of p a t i e n t r e t e n t i o n of i n f o r m a t i o n and the emotional impact of g e n e t i c c o u n s e l l i n g would be p o s s i b l e . The present research was designed to examine the g e n e t i c c o u n s e l l i n g o f f e r e d by medical g e n e t i c i s t s and g e n e t i c c o u n s e l l o r s i n the Department of M e d i c a l Genetics and by primary care p r o v i d e r s w i t h i n the community. Part B The Present Study In the pr o v i n c e of B r i t i s h Columbia, p r e n a t a l d i a g n o s i s i s a v a i l a b l e to a l l pregnant women age 35 and over at the expected date of confinement (EDC) because of i n c r e a s e d r i s k s f o r f e t a l chromosome a b n o r m a l i t i e s . A l l p a t i e n t s e l i g i b l e to have a p r e n a t a l d i a g n o s t i c procedure are expected f i r s t to r e c e i v e a p p r o p r i a t e c o u n s e l l i n g to a i d i n t h e i r d e c i s i o n -making. The c o u n s e l l i n g i n v o l v e s the f o l l o w i n g : a d i s c u s s i o n of t h e i r s p e c i f i c a g e - r e l a t e d r i s k s , a d e s c r i p t i o n of the two most commonly used procedures (amniocentesis and c h o r i o n i c v i l l u s sampling) and t h e i r r e s p e c t i v e r i s k s , and an ex p l a n a t i o n of the meaning of abnormal r e s u l t s . The o b j e c t i v e of the c o u n s e l l i n g i s to impart enough i n f o r m a t i o n to p a t i e n t s to permit them to make an informed d e c i s i o n and giv e informed consent. P r i o r t o November, 1989, a l l women e l i g i b l e f o r p r e n a t a l d i a g n o s i s were c o u n s e l l e d by s p e c i a l l y - t r a i n e d g e n e t i c c o u n s e l l o r s and medical g e n e t i c i s t s through the Department of Med i c a l G e n e t i c s , The U n i v e r s i t y of B r i t i s h Columbia (UBC). Since then, those p a t i e n t s having no r i s k s other than those a s s o c i a t e d with advanced maternal age (AMA) have r e c e i v e d such c o u n s e l l i n g from t h e i r primary care p h y s i c i a n or o b s t e t r i c i a n i n the community, r a t h e r than by g e n e t i c c o u n s e l l o r s and medical g e n e t i c i s t s at the M e d i c a l G e n e t i c s c l i n i c . On the day of the procedure, a review of the inf o r m a t i o n presented i n c o u n s e l l i n g i s done by a nurse 34 appointed to the AMA program to ensure t h a t informed consent i s p r o v i d e d . P a t i e n t s with AMA and a d d i t i o n a l g e n e t i c concerns have continued to be seen by g e n e t i c c o u n s e l l o r s and medical g e n e t i c i s t s . I n d i v i d u a l i z e d c o u n s e l l i n g i s pro v i d e d t o such p a t i e n t s with r e s p e c t to t h e i r s i t u a t i o n i n a d d i t i o n to the c o u n s e l l i n g given to a l l p a t i e n t s i n the AMA program. T h i s system pr o v i d e d an unique o p p o r t u n i t y to study the e f f e c t i v e n e s s of the g e n e t i c c o u n s e l l i n g done by primary care p h y s i c i a n s i n a d d i t i o n to that done by g e n e t i c c o u n s e l l o r s and medical g e n e t i c i s t s . The s u b j e c t s i n t h i s study comprised three groups of women. The f i r s t group c o n s i s t e d of women with AMA only as an i n d i c a t i o n f o r p r e n a t a l d i a g n o s i s (AO). These women were c o u n s e l l e d by t h e i r primary care p h y s i c i a n i n the community. The second group c o n s i s t e d of women with AMA p l u s other g e n e t i c concerns (AP) which d i d not impose a d d i t i o n a l g e n e t i c r i s k s above t h e i r r i s k a s s o c i a t e d with AMA or give reason to manage t h e i r pregnancy any d i f f e r e n t l y than the women i n AO. Examples of concerns i n the AP group i n c l u d e an o b s t e t r i c h i s t o r y of spontaneous pregnancy l o s s e s with normal p a r e n t a l chromosomes, a f a m i l y h i s t o r y of a l l e r g i e s , or concern about exposure t o an environmental agent t h a t , i n f a c t , i s not a tera t o g e n . The women i n AP were c o u n s e l l e d by g e n e t i c c o u n s e l l o r s at the M e d i c a l Genetics c l i n i c to d i s c u s s t h e i r 35 concerns i n a d d i t i o n to AMA c o u n s e l l i n g . The t h i r d group c o n s i s t e d of women with AMA and complex i n d i c a t i o n s f o r p r e n a t a l d i a g n o s i s (AC) which d i d impose a d d i t i o n a l f e t a l r i s k s and may have r e q u i r e d a d d i t i o n a l t e s t i n g and foll o w - u p . Examples of concerns i n the AC group i n c l u d e a h i s t o r y of a pr e v i o u s c h i l d with a chromosome abnormality or a n e u r a l tube d e f e c t . The women i n AC were c o u n s e l l e d by g e n e t i c c o u n s e l l o r s and medical g e n e t i c i s t s at the M e d i c a l Genetics c l i n i c to d i s c u s s t h e i r r i s k s i n a d d i t i o n to age. The purpose of t h i s t h e s i s i s to examine p a t i e n t s ' knowledge and s a t i s f a c t i o n gained through g e n e t i c c o u n s e l l i n g by g e n e t i c c o u n s e l l o r s , medical g e n e t i c i s t s , and primary care p h y s i c i a n s . The study d e s c r i b e s the p a t i e n t s ' r e c a l l of inf o r m a t i o n normally presented i n AMA c o u n s e l l i n g and t h e i r emotional responses to t h e i r involvement with p r e n a t a l d i a g n o s i s . From the ob s e r v a t i o n s presented i n t h i s survey, i t i s t h i s w r i t e r ' s i n t e n t i o n to assess the e f f e c t i v e n e s s of ge n e t i c c o u n s e l l i n g provided by g e n e t i c c o u n s e l l o r s , medical g e n e t i c i s t s , and primary care p h y s i c i a n s r e g a r d i n g r i s k s a s s o c i a t e d with AMA. 36 Chapter F i v e Method Sub j e c t s There were two c r i t e r i a f o r s e l e c t i o n of s u b j e c t s . F i r s t l y , they had to be pregnant women aged 35 and over at the expected date of confinement and, t h e r e f o r e , e l i g i b l e f o r p r e n a t a l d i a g n o s i s . Secondly, they had to have s u f f i c i e n t f l u e n c y i n v e r b a l and w r i t t e n E n g l i s h to p r o v i d e informed consent and to complete the q u e s t i o n n a i r e s . In the event of an e l i g i b l e s u b j e c t who was not E n g l i s h - s p e a k i n g , the language of p r e f e r e n c e was nonetheless recorded to e s t a b l i s h whether or not there was a s i g n i f i c a n t need t o arrange f o r m u l t i l i n g u a l c o u n s e l l i n g w i t h i n the p r e n a t a l s e r v i c e . Over a p e r i o d of f i v e months, a l l p a t i e n t s e l i g i b l e f o r p r e n a t a l d i a g n o s i s were asked to p a r t i c i p a t e i n t h i s study with the f o l l o w i n g e x c e p t i o n s : p a t i e n t s were seen o n l y on Wednesdays and F r i d a y s d u r i n g the l a t t e r two months of the study p e r i o d due to other research i n v o l v i n g the CVS p a t i e n t s and other academic commitments, and p a t i e n t s were not seen on e i g h t non-consecutive days due to t h i s w r i t e r ' s absence f o r v a r i o u s reasons. T h e r e f o r e , p a t i e n t s who p a r t i c i p a t e d i n t h i s study were r e p r e s e n t a t i v e of the p o p u l a t i o n from which they were drawn. Forty-seven of 884 p a t i e n t s (6%) were excluded due to a 37 language b a r r i e r . The m a j o r i t y of these p a t i e n t s were of O r i e n t a l descent and had access to s e v e r a l Chinese or Cantonese-speaking p h y s i c i a n s w i t h i n the community to p r o v i d e them with a p p r o p r i a t e c o u n s e l l i n g . T h i r t e e n of 884 p a t i e n t s (1%) r e f u s e d to p a r t i c i p a t e due to i n c r e a s e d a n x i e t y or simply because they were too busy. Seventy-two of 884 p a t i e n t s (8%) who had given consent to p a r t i c i p a t e and 63 of 884 p a t i e n t s (7%) who had not given consent u l t i m a t e l y d i d not p a r t i c i p a t e due to i n s u f f i c i e n t time a v a i l a b l e t o complete the f i r s t q u e s t i o n n a i r e . F i n a l l y , there were 38 of 884 p a t i e n t s (5%) who agreed to p a r t i c i p a t e and completed the f i r s t q u e s t i o n n a i r e , but were subsequently excluded from the study f o r s e v e r a l reasons: a missed a b o r t i o n , f e t a l demise, or u l t r a s o u n d abnormality d e t e c t e d at procedure, more than s i x weeks elapsed before completing the second q u e s t i o n n a i r e , or they chose not to have a p r e n a t a l d i a g n o s t i c procedure p o s t - c o u n s e l l i n g . Even though the data c o l l e c t e d from these 38 p a t i e n t s was not i n c l u d e d i n the complete data a n a l y s i s , t h e i r responses were reviewed to determine whether they d i f f e r e d from the other p a t i e n t s . Of the i n i t i a l 884 e l i g i b l e p a t i e n t s f o r t h i s study, 399 (45%) met i n c l u s i o n c r i t e r i a and s u c c e s s f u l l y completed both q u e s t i o n n a i r e s . There were 311 of 722 p a t i e n t s i n AO (43%), 52 of 102 p a t i e n t s i n AP (53%), and 36 of 60 p a t i e n t s i n AC (60%) . 38 Procedure P a t i e n t s were asked to complete two q u e s t i o n n a i r e s . The f i r s t q u e s t i o n n a i r e (Ql) was completed before the p a t i e n t s had a p r e n a t a l d i a g n o s t i c procedure, and the second q u e s t i o n n a i r e (Q2) was completed a f t e r the p a t i e n t s had a p r e n a t a l d i a g n o s t i c procedure. Due to the change i n the p r o v i s i o n of g e n e t i c c o u n s e l l i n g regarding AMA and p r e n a t a l d i a g n o s i s , the timing of Ql completion v a r i e d among groups. From November, 1989, AMA only p a t i e n t s (AO) were c o u n s e l l e d by t h e i r primary care p h y s i c i a n i n the community ra t h e r than by g e n e t i c c o u n s e l l o r s at the M e d i c a l G e n e t i c s c l i n i c . Only a f t e r c o u n s e l l i n g were such p a t i e n t s r e f e r r e d to and seen at the P r e n a t a l Assessment U n i t (PAU) on the day of t h e i r procedure. T h e r e f o r e , i t was not p o s s i b l e t o access these p a t i e n t s p r i o r to r e c e i v i n g g e n e t i c c o u n s e l l i n g . On the other hand, s i n c e the p a t i e n t s i n AP and AC were c o u n s e l l e d by g e n e t i c c o u n s e l l o r s and medical g e n e t i c i s t s at the M e d i c a l G e n e t i c s c l i n i c ( s i t u a t e d on the same s i t e as the PAU), i t was p o s s i b l e f o r the women i n these groups to complete Ql p r i o r to r e c e i v i n g g e n e t i c c o u n s e l l i n g as a time c o u l d be arranged f o r them to do so a t the c l i n i c on the day of t h e i r appointment. A summary of the times at which Ql and Q2 were completed i n each group i s in c l u d e d i n Table 1. The time elapsed between g e n e t i c c o u n s e l l i n g , the day of the procedure, and the completion of Q2 was recorded f o r a l l TABLE 1: QUESTIONNAIRES #1 & #2: TIMES COMPLETED QUESTIONNAIRE 1 (Q1) QUESTIONNAIRE 2 (Q2) AMA ONLY AMA PLUS AMA COMPLEX POST COUNSELLING at the Prenatal Assessment Unit(PAU) before having a prenatal test. PRIOR TO COUNSELLING at the Medical Genetics clinic. POST PROCEDURE either (i) at the PAU after their procedure and before leaving the hospital. (ii) at home to be mailed back within four weeks. CO 40 p a t i e n t s due to i t s p o t e n t i a l to decrease p a t i e n t s ' r e t e n t i o n of i n f o r m a t i o n provided i n g e n e t i c c o u n s e l l i n g . The number of women i n a l l three groups who completed both q u e s t i o n n a i r e s on the same day was: 264 of 311 p a t i e n t s i n AO (85%), 23 of 52 p a t i e n t s i n AP (44%), and 18 of 36 p a t i e n t s i n AC (50%). The maximum time elapsed i n AP and AC was two weeks between r e c e i v i n g g e n e t i c c o u n s e l l i n g and having a procedure, and up to four weeks u n t i l Q2 was completed. However, only 5 of 52 p a t i e n t s i n AP (10%) and 5 of 36 p a t i e n t s i n AC (14%) f e l l i n t o t h i s category. The time elapsed between r e c e i v i n g g e n e t i c c o u n s e l l i n g and completion of Ql i n AO was u n a v a i l a b l e , although 48 of 311 p a t i e n t s (15%) i n t h i s group completed Q2 w i t h i n four weeks a f t e r having a p r e n a t a l d i a g n o s t i c procedure. P a t i e n t s who had p r e v i o u s l y had p r e n a t a l d i a g n o s i s were in c l u d e d i n t h i s study s i n c e t h e i r r i s k a s s o c i a t e d with advanced maternal age w i l l have i n c r e a s e d i n comparison to t h e i r r i s k i n a pr e v i o u s pregnancy. The breakdown of women in t h i s category are d e s c r i b e d i n the r e s u l t s s e c t i o n . P r e s e n t a t i o n of Data The q u e s t i o n n a i r e s used i n t h i s study were designed to c o l l e c t i n f o r m a t i o n from women having p r e n a t a l d i a g n o s i s f o r advanced maternal age (as a minimal i n d i c a t i o n ) . The types of i n f o r m a t i o n requested i n v o l v e d demographic v a r i a b l e s (for example, age, g r a v i d i t y , e t h n i c o r i g i n , l e v e l of education, 41 e t c . ) , numerical r i s k s a s s o c i a t e d with advanced maternal age and having a p r e n a t a l d i a g n o s t i c procedure, and p e r s o n a l i n f o r m a t i o n r e g a r d i n g t h e i r involvement with p r e n a t a l d i a g n o s i s . A l l q u e s t i o n s were designed i n c o l l a b o r a t i o n with t h i s w r i t e r ' s t h e s i s committee with the e x c e p t i o n of two which were obtained from q u e s t i o n n a i r e s r e p o r t e d i n the psychology l i t e r a t u r e . These two measures i n c l u d e d the A-State s c a l e of the S t a t e - T r a i t Anxiety Inventory ( S p i e l b e r g e r , 1970), and the S u b j e c t i v e S t r e s s S c a l e (Berkun, B i a l e k , Kern, & Y a g i , 1962) . In the S t a t e - T r a i t Anxiety Inventory, p a t i e n t s were evaluated regarding f e e l i n g s of t e n s i o n , nervousness, worry, and apprehension ( S p i e l b e r g e r , 1972). H a l f of the items from a l i s t of 20 r e l a t e to the presence of these f e e l i n g s , and the remaining items r e f l e c t the absence. P a t i e n t s are i n s t r u c t e d to r a t e each item from (1) not at a l l , to (4) very much so. For items i n which a high r a t i n g i n d i c a t e s low a n x i e t y , the s c o r i n g weights are reversed. For example, i f a p a t i e n t g i v e s a score of 4 to the statement, "I f e e l calm," her score i n the a n a l y s i s i s only 1. Thus, the a n a l y s i s d e f i n e s a continuum of i n c r e a s i n g l e v e l s of s t a t e a n x i e t y i n t e n s i t y , with low scores i n d i c a t i n g s t a t e s of calmness and s e r e n i t y , intermediate scores i n d i c a t i n g moderate l e v e l s of t e n s i o n and apprehensiveness, and high 42 scores r e f l e c t i n g s t a t e s of intense apprehension and t e a r f u l n e s s ( S p i e l b e r g e r , 1972). The S u b j e c t i v e S t r e s s S c a l e i s a l s o designed to assess an emotional s t a t e by r e q u i r i n g p a t i e n t s to choose one a d j e c t i v e from a l i s t of 14 which best d e s c r i b e s how they are f e e l i n g at a p a r t i c u l a r p o i n t - i n - t i m e . The l i s t i n v o l v e s a spectrum of a d j e c t i v e s , ranging from very p o s i t i v e to very negative examples. Samples of the q u e s t i o n n a i r e s used i n t h i s study are inc l u d e d i n Appendix A. The A-State s c a l e i s i n c l u d e d as #2 in Q2, and the S u b j e c t i v e S t r e s s S c a l e i s in c l u d e d as #21(b) in Ql and #10 i n Q2. As there are no pre v i o u s s t u d i e s of t h i s kind a v a i l a b l e to compare r e s u l t s with, measures of s t a t i s t i c a l s i g n i f i c a n c e w i l l not be made i n t h i s a n a l y s i s . Thus, the p r e s e n t a t i o n of the data w i l l i n v o l v e a d e s c r i p t i v e a n a l y s i s only such that i n t e r p r e t a t i o n s of "more" or " l e s s " w i l l r e f e r to q u a l i t a t i v e r a t h e r than q u a n t i t a t i v e d e s c r i p t i o n s . Due to the d i f f e r e n c e s i n s i z e s of the three groups of women i n a d d i t i o n to the v a r i o u s backgrounds and i n d i c a t i o n s f o r p r e n a t a l d i a g n o s i s , a comparison between the three groups of women was not made i n t h i s t h e s i s . Chapter Six Re s u l t s Background Data The women i n a l l three groups d i d not d i f f e r g r e a t l y with r e s p e c t to age, e t h n i c o r i g i n , and e d u c a t i o n a l background. A d e s c r i p t i o n of these r e s u l t s i n a d d i t i o n t o other demographic v a r i a b l e s i s in c l u d e d i n Table 2. As mentioned p r e v i o u s l y , women who had had p r e n a t a l d i a g n o s i s i n a p r e v i o u s pregnancy were in c l u d e d i n t h i s study s i n c e i t i s the women's knowledge of r i s k s a s s o c i a t e d with t h e i r present pregnancy that i s of i n t e r e s t . A l l of the women who p a r t i c i p a t e d i n t h i s study were pregnant, age 35 and over at the expected date of confinement, and, t h e r e f o r e , e l i g i b l e f o r p r e n a t a l d i a g n o s i s . Depending on age and i n d i c a t i o n s f o r p r e n a t a l d i a g n o s i s , women chose e i t h e r amniocentesis or c h o r i o n i c v i l l u s sampling (CVS). The m a j o r i t y of p a t i e n t s i n each group had amniocentesis: 230 of 311 i n AO (74%), 31 of 52 i n AP (60%), and 25 of 36 i n AC (69%). The m a j o r i t y of women i n each group s a i d t h a t t h e i r pregnancy was planned (70% i n AO (N=306), 71% i n AP (N=52), and 51% i n AC (N=35)), and that i t took l e s s than one year to conceive (70% i n AO (N=309) , 75% i n AP (N=52), and 79% i n AC (N=34)) . TABLE 2: BACKGROUND DATA AMA ONLY AMA PLUS AMA COMPLEX N = 311 N = 52 N = 36 AGE (mean) 37.089 37.615 37.083 ETHNIC ORIGIN 83% 90% 89% - Caucasian (257/311) (47/52) (32/36) RELIGION 45% 48% 58% - Protestant (130/311) (25/52) (21/36) EDUCATION - completed 25% 22% 27% high school (74/311) (11/50) (9/33) - > 2 yrs. post- 63% 66% 64% secondary (191/311) (33/50) (21/33) OBSTETRIC HISTORY - gravida 2 4 2 (35%, 61/309) (21%, 11/52) (31%, 11/35) - >1 loss (SA) 41% 75% 64% (126/305) (38/51) (23/36) PREVIOUS PND 17% 40% 25% (52/311) (21/52) (9/36) 45 V a r i a b l e s Regarding P r e n a t a l Diagnosis In a l l three groups, the m a j o r i t y of women s a i d that they had c o n s i d e r e d having p r e n a t a l d i a g n o s i s (PND) b e f o r e being given i n f o r m a t i o n about the s e r v i c e from t h e i r d o c t o r / medical g e n e t i c i s t or other source: 77% i n AO (N=298), 79% i n AP (N=52) , and 69% i n AC (N=35) . The f i r s t and second most important "reasons f o r having PND" i n each group was being i n a high r i s k age group (66% i n AO (N=311) , 58% i n AP (N=52), and 42% in AC (N=36) ) and not wanting to have an abnormal baby r e g a r d l e s s of the r i s k (36% in AO (N=311), 37% i n AP (N=52), and 39% i n AC (N=36)), r e s p e c t i v e l y . T h i s q u e s t i o n was i n c l u d e d i n #9 i n Q l . In the case where p a t i e n t s r e c e i v e d c o u n s e l l i n g by g e n e t i c c o u n s e l l o r s and medical g e n e t i c i s t s , having a p e r s o n a l or f a m i l y h i s t o r y of a g e n e t i c d i s o r d e r was a l s o i n d i c a t e d as the second most important reason f o r 12% of the p a t i e n t s i n AP (N=52) and the most important reason f o r 28% of the p a t i e n t s i n AC (N=36). The sources i d e n t i f i e d as the most r e s p o n s i b l e f o r p r o v i d i n g i n f o r m a t i o n about g e n e t i c problems were the p a t i e n t s ' f a m i l y doctor (48% i n AO (N=254), 23% i n AP (N=44), and 43% i n AC (N=35)), or o b s t e t r i c i a n (17% i n AO (N=254), 20% i n AP (N=44), and 29% i n AC (N=35)). Other p o s s i b i l i t i e s such as f a m i l y and f r i e n d s , media, or books were r e l e v a n t f o r l e s s than 10% of a l l p a t i e n t s . P a t i e n t s who were c o u n s e l l e d by g e n e t i c c o u n s e l l o r s and medical g e n e t i c i s t s claimed a Genetic A s s o c i a t e as t h e i r source of in f o r m a t i o n by only 12% of the p a t i e n t s i n AP (N=44) and 14% of the p a t i e n t s i n AC (N=35). A supplementary q u e s t i o n i d e n t i f i e d the p a t i e n t s ' f a m i l y doctor as the f i r s t most h e l p f u l i n making a d e c i s i o n to have PND (47% i n AO (N=311), 40% i n AP (N=52), and 33% i n AC (N=36)). The second most h e l p f u l i n d i v i d u a l (s) were i d e n t i f i e d as the p a t i e n t s ' f a m i l y and f r i e n d s i n AO (21%, N=311) and o b s t e t r i c i a n i n AP (21%, N=52) and AC (22%, N=36). F i n a l l y , the m a j o r i t y of women i n a l l three groups s a i d that t h e i r most important "reason f o r choosing to have PND" was to have the o p t i o n of t e r m i n a t i n g an abnormal pregnancy: 50% i n AO (N=311), 62% i n AP (N=52), and 67% i n AC (N=36). T h i s q u e s t i o n was in c l u d e d as #20 i n Q l . The second and t h i r d most important reasons were to r e l i e v e a n x i e t y by knowing that the baby's chromosomes were normal (52% i n AO (N=311), 46% i n AP (N=52), and 56% in AC (N=36)), and to prepare f o r an abnormal c h i l d (19% i n AO (N=311), 16% i n AP (N=52), and 25% i n AC (N=36)), r e s p e c t i v e l y . Risks A s s o c i a t e d with Advanced Maternal Age In order to assess how informed the p a t i e n t s were through the r e l a t i v e knowledge gained i n t h e i r c o u n s e l l i n g p r o c e s s , s e v e r a l q u e s t i o n s included i n the f i r s t q u e s t i o n n a i r e (Ql) were repeated i n the second q u e s t i o n n a i r e (Q2). With res p e c t t o r i s k s a s s o c i a t e d with advanced 47 maternal age (AMA), the r i s k s of having a baby with Down's syndrome were d i s c u s s e d . P a t i e n t s were asked to f i r s t of a l l i n d i c a t e whether or not they had been t o l d t h e i r r i s k of having a baby with Down's syndrome, and secondly, t o give what the approximate r i s k of having a baby with Down's syndrome i s at age 30, 40, and at t h e i r own age. A l l responses given f o r numerical r i s k estimates were c a t e g o r i z e d i n t o three l e v e l s ; informed, somewhat informed, and uninformed. The l i m i t s used t o e s t a b l i s h these l e v e l s were d e r i v e d from B.C. data for Down's syndrome (Hook, 1981), and through p e r s o n a l communication with Dr. B. M c G i l l i v r a y . A d e s c r i p t i o n of the l e v e l s used f o r d i f f e r e n t ages are inc l u d e d i n Appendix B. In Q l , approximately 75% of a l l women s a i d t h at they had been t o l d t h e i r r i s k of having a baby with Down's syndrome. However, p a t i e n t s who claimed that they had been t o l d t h e i r r i s k d i d not always reproduce that number when requested. For example, 239 of 304 p a t i e n t s i n AO (79%) i n d i c a t e d t h a t they had been t o l d t h e i r r i s k , y et only 161 of those 239 p a t i e n t s (67%) a c t u a l l y reproduced that r i s k when asked to do so. The other 78 of 239 p a t i e n t s (33%) l e f t the en t r y blank and were c o n s i d e r e d as having no r e c a l l i n the data a n a l y s i s . An e x p l a n a t i o n f o r treatment of missing data w i l l be d i s c u s s e d f u r t h e r i n the d i s c u s s i o n . A g r a p h i c a l r e p r e s e n t a t i o n of these r e s u l t s i n a d d i t i o n to Ql r e s u l t s 48 from AP and AC are i n c l u d e d i n F i g u r e 1. The numerical r i s k of having a baby with Down's syndrome at age 30 and 40 was given by l e s s than 30% of the p a t i e n t s i n each group i n Q l . In a d d i t i o n to t h i s low l e v e l of response, the m a j o r i t y of the r i s k estimates given were uninformed responses. Thus, due to such low numbers of informed p a t i e n t s o v e r a l l , the r e s u l t s from these e n t r i e s were not t a b u l a t e d . In comparing Ql and Q2 responses, the number of p a t i e n t s who s a i d t h at they had been t o l d t h e i r r i s k of having a baby with Down's syndrome in c r e a s e d i n each group from 79% in Ql (N=304) to 93% i n Q2 (N=305) f o r AO, 79% i n Ql (N=52) to 98% i n Q2 (N=50) for AP, and 72% i n Ql (N=36) to 100% i n Q2 (N=34) f o r AC. Among those p a t i e n t s who proceeded to reproduce a r i s k estimate f o r t h e i r own age i n Q2, there was an i n c r e a s e i n the number of informed p a t i e n t s : 70% i n Ql (N=161) to 82% i n Q2 (N=221) f o r AO, 64% i n Ql (N=25) to 77% i n Q2 (N=39) f o r AP, and 65% i n Ql (N=20) to 77% i n Q2 (N=26) fo r AC. However, although the number of p a t i e n t s having no r e c a l l decreased from Ql to Q2, approximately 25% of the women i n each group were s t i l l unable to r e c a l l t h e i r r i s k estimate i n Q2. R e s u l t s f o r Q2 p a t i e n t r e c a l l of t h e i r r i s k of having a baby with Down's syndrome are a l s o i n c l u d e d i n F i g u r e 1. R e s u l t s of r i s k estimates f o r ages 30 and 40 are not i n c l u d e d f o r the same reasons as i n Q l . 49 FIGURE 1. Q1: PATIENT RECALL OF RISK OF DOWN'S 100 % WHO REPORTED RECEIVING RISK AMA ONLY INFORMED UNINFORMED AMA P L U S AMA C O M P L E X H SOMEWHAT INFORMED L"ZH NO RECALL Q2: PATIENT RECALL OF RISK OF DOWN'S % WHO REPORTED RECEIVING RISK 100 AMA ONLY INFORMED UNINFORMED AMA P L U S AMA C O M P L E X H SOMEWHAT INFORMED LU NO RECALL 50 In a d d i t i o n to s c o r i n g the number of informed p a t i e n t s regarding r i s k s a s s o c i a t e d with AMA, the data were a l s o used to determine how many women simply recognized that the r i s k of having a baby with Down's syndrome i n c r e a s e s with age. Thi s was accomplished by s c o r i n g the number of women who gave a lower r i s k f o r age 30 than at age 40, and a r i s k estimate i n between i f t h e i r age was w i t h i n these l i m i t s . The r e s u l t s from t h i s a n a l y s i s showed that only 13% i n AO (N=311), 16% i n AP (N=52), and 22% i n AC (N=36) i n d i c a t e d t h i s knowledge through t h e i r responses i n Q l , and even fewer p r o p o r t i o n s i n Q2. F i n a l l y , p a t i e n t s were a l s o asked to i n d i c a t e how they f e l t about t h e i r own r i s k of having a baby with Down's syndrome. For example, they were asked to i n d i c a t e whether they f e l t t h a t t h e i r r i s k was high or low. In AO, 51% of the p a t i e n t s (N=288) i n Ql and 59% of the p a t i e n t s (N=297) i n Q2 f e l t t h a t t h e i r r i s k was low. The p a t i e n t s who d i d not respond with a low r i s k p e r c e p t i o n f e l t t h a t t h e i r r i s k was e i t h e r high (35% i n Ql and 31% i n Q2) or average (14% i n Ql and 10% i n Q2). In AP, 50% of the p a t i e n t s (N=46) i n Ql and 45% of the p a t i e n t s (N=49) i n Q2 f e l t that t h e i r r i s k was high. Again, a l t e r n a t i v e responses were e i t h e r low (35% i n Ql and 37% i n Q2) or average (15% i n Ql and 18% i n Q2). F i n a l l y , i n AC, 44% of the p a t i e n t s (N=32) f e l t that t h e i r r i s k was low and 44% of the p a t i e n t s f e l t i t was high i n Q l . 51 Comparing t h i s to Q2, the number of p a t i e n t s with a high r i s k p e r c e p t i o n i n c r e a s e d to 50% (N=34), l e a v i n g 41% of the p a t i e n t s f e e l i n g t h a t t h e i r r i s k was low, and 9% average. Risk A s s o c i a t e d with Neural Tube Defects In the pr o v i n c e of B r i t i s h Columbia, a woman's r i s k of having a baby with a n e u r a l tube d e f e c t i s 1/700 (McBride, 1979). T h i s anomaly i s r o u t i n e l y screened f o r using the sample obtained from women having amniocentesis. The 1/700 r i s k estimate a p p l i e s to the m a j o r i t y of women r e g a r d l e s s of t h e i r age and may or may not be inc l u d e d i n the p r e n a t a l c o u n s e l l i n g p r o c e s s . In order to assess whether or not c o u n s e l l i n g f o r n e u r a l tube d e f e c t s was provided to women i n t h i s study, and i f so, i f they were informed, a q u e s t i o n was incl u d e d i n e x a c t l y the same manner as the p r e v i o u s q u e s t i o n . That i s , the women were asked i f they had been t o l d t h e i r r i s k of having a baby with a n e u r a l tube d e f e c t , and i f so, what d i d they think the approximate r i s k was at age 30, 40, and at t h e i r own age. The purpose of m a i n t a i n i n g c o n s i s t e n c y i n the design of these q u e s t i o n s was not to pro v i d e the p a t i e n t with any i n f o r m a t i o n that could r e v e a l whether the r i s k was a s s o c i a t e d with age or not. In Q l , approximately 40% of a l l women s a i d t h a t they had been t o l d t h e i r r i s k of having a baby with a n e u r a l tube d e f e c t . As i n the p r e v i o u s q u e s t i o n , not a l l of the women who s a i d t h a t they had been t o l d t h e i r r i s k were able to 52 reproduce t h a t r i s k when requested t o do so: 139 of 307 p a t i e n t s i n AO (45%) reported r e c e i v i n g a r i s k with only 73 of those 139 p a t i e n t s (53%) a c t u a l l y reproducing a r i s k , 19 of 51 p a t i e n t s i n AP (37%) reported r e c e i v i n g a r i s k with only 4 of those 19 p a t i e n t s (21%) reproducing a r i s k , and f i n a l l y , 14 of 35 p a t i e n t s i n AC (40%) reported r e c e i v i n g a r i s k with o n l y 8 of those 14 p a t i e n t s (57%) reproducing a r i s k . The number of informed p a t i e n t s v a r i e d across the three groups: 45 of 73 i n AO (62%), 1 of 4 i n AP (25%), and 1 of 8 i n AC (13%). A l l Ql r e s u l t s are in c l u d e d i n F i g u r e 2, demonstrating an o v e r a l l low l e v e l of response regarding r i s k s a s s o c i a t e d with n e u r a l tube d e f e c t s . In comparing Ql to Q2 responses, the number of women who reported having r e c e i v e d a r i s k regarding n e u r a l tube d e f e c t s i n c r e a s e d to 80% i n AO (N=300), 90% i n AP (N=49), and 97% i n AC (N=33). In a d d i t i o n to t h i s , the number of women who were able t o reproduce t h e i r r i s k a l s o i n c r e a s e d to 72% i n AO (N=241), 70% i n AP (N=44), and 69% i n AC (N=32). As i n Q l , the number of informed p a t i e n t s v a r i e d across the three groups: 104 of 174 p a t i e n t s i n AO (60%), 14 of 31 p a t i e n t s i n AP (45%), and 6 of 22 p a t i e n t s i n AC (27%). In comparison to Ql r e s u l t s , F i g u r e 2 demonstrates an i n c r e a s e i n the l e v e l of response f o r a l l groups. However, the o v e r a l l numbers of informed p a t i e n t s continued to represent l e s s than a ma j o r i t y i n each group. 53 FIGURE 2. Q1: PATIENT RECALL OF RISK OF NTDs % WHO REPORTED RECEIVING RISK 100 80 60 N-307 A M A ONLY INFORMED UNINFORMED N-51 N-35 A M A P L U S A M A C O M P L E X WM SOMEWHAT INFORMED L~Z3 NO RECALL Q2: PATIENT RECALL OF RISK OF NTDs % WHO REPORTED RECEIVING RISK A M A ONLY INFORMED UNINFORMED A M A P L U S A M A C O M P L E X H SOMEWHAT INFORMED L"Z] NO RECALL 54 Since the response r a t e s to r i s k s a s s o c i a t e d with n e u r a l tube d e f e c t s at ages 30 and 40 were l e s s than 30% by a l l groups i n both Ql and Q2, the r e s u l t s from these e n t r i e s were not t a b u l a t e d . However, the data was reviewed to determine how many women simply acknowledged that the r i s k of having a baby with a n e u r a l tube d e f e c t i s not a s s o c i a t e d with age and i s the same f o r a l l women i n B.C. This was accomplished by s c o r i n g the number of women who gave the same r i s k estimate f o r age 30, 40, and t h e i r own age (be i t informed or n o t ) , as w e l l as those who cou l d not r e c a l l the exact number yet i n d i c a t e d on the q u e s t i o n n a i r e that they were aware t h a t i t was the same f o r women of a l l ages. In Q l , only 8% of the p a t i e n t s i n AO (N=311), 6% of the p a t i e n t s i n AP (N=52), and 3% of the p a t i e n t s i n AC (N=36) i d e n t i f i e d t h i s i n f o r m a t i o n . Comparing these r e s u l t s to those found i n Q2, the number of women acknowledging t h i s i n f o r m a t i o n i n c r e a s e d to 15% i n AO (N=311), 24% i n AP (N=52), and 14% i n AC (N=36). As i n the p r e v i o u s q u e s t i o n regarding Down's syndrome, p a t i e n t s were a l s o asked how they f e l t about t h e i r r i s k of having a baby with a n e u r a l tube d e f e c t . In Q l , 65% of the p a t i e n t s i n AO (N=311), 56% i n AP (N=52), and 58% i n AC (N=36) gave a response to t h i s q u e s t i o n , whereas a m a j o r i t y of the women i n each group s a i d that they f e l t that t h e i r r i s k was low: (159 of 203 i n AO (78%), 17 of 29 i n AP (59%), and 14 of 21 i n AC (67%). In Q2, the response r a t e i n c r e a s e d i n each group to 84% i n AO (N=311), 79% i n AP (N=52), and 81% i n AC (N=36), and as i n Q l , the m a j o r i t y of the women i n each group continued to f e e l t h a t t h e i r r i s k was low: 210 of 260 i n AO (81%), 29 of 41 i n AP (71%), and 16 of 29 i n AC (55%). R i s k s A s s o c i a t e d with P r e n a t a l D i a g n o s t i c Procedures A p r e r e q u i s i t e to an informed d e c i s i o n to have a p r e n a t a l d i a g n o s t i c procedure i s knowledge about the procedure. Given that a l l p a t i e n t s i n t h i s study were e l i g i b l e to have a p r e n a t a l t e s t and, subsequently, had e i t h e r an amniocentesis or c h o r i o n i c v i l l u s sampling (CVS), women were asked s e v e r a l questions regarding r i s k s a s s o c i a t e d with having a p r e n a t a l d i a g n o s t i c procedure. For both procedures, the same spectrum of r i s k estimates was provided i n order to reduce the number of c o r r e c t responses by chance alone. P a t i e n t s who l e f t the entry blank or i n d i c a t e d t hat they d i d not know the r i s k were scored and t a b u l a t e d as having no r e c a l l . In response to the r i s k a s s o c i a t e d with having an amniocentesis, F i g u r e 3 demonstrates that a la r g e number of p a t i e n t s i n each group advanced from having no r e c a l l i n Ql to being informed i n Q2. Thus, the number of informed p a t i e n t s i n each group i n c r e a s e d from 20% (N=299) i n Ql to 74% (N=305) i n Q2 f o r AO, 32% (N=50) i n Ql to 68% (N=52) i n Q2 f o r AP, and 16% (N=35) i n Ql to 80% (N=35) i n Q2 f o r AC. In each event, the response rate was above 90% f o r a l l groups FIGURE 5. Q1: PATIENT RECALL OF RISK WITH AMNIO Q2: PATIENT RECALL OF RISK WITH AMNIO % WHO RESPONDED N-305 N-52 N-35 5 7 FIGURE 4. Q1: PATIENT RECALL OF RISK WITH CVS % W H O R E S P O N D E D 100 AMA ONLY mM INFORMED AMA PLUS 1 UNINFORMED AMA COMPLEX NO R E C A L L Q2: PATIENT RECALL OF RISK WITH CVS % W H O R E S P O N D E D 100 AMA ONLY • 1 INFORMED AMA PLUS AMA COMPLEX 1 UNINFORMED 111 NO R E C A L L 58 concerned. P a t i e n t r e c a l l of the r i s k a s s o c i a t e d with having CVS a l s o showed an i n c r e a s e i n the number of informed p a t i e n t s . A g r a p h i c a l r e p r e s e n t a t i o n of these r e s u l t s i s i n c l u d e d i n F i g u r e 4. In Q l , 43% of the p a t i e n t s i n AO (N=292), 42% i n AP (N=51), and 27% i n AC (N=35) were informed. Comparing these r e s u l t s to Q2, the m a j o r i t y of p a t i e n t s i n a l l three groups were informed: 58% i n AO (N=302), 63% i n AP (N=51), and 51% i n AC (N=35). Once again, the response r a t e f o r a l l e n t r i e s r e g a r d i n g the r i s k a s s o c i a t e d with CVS was above 90% f o r a l l three groups. Although u l t r a s o u n d i s not an i n v a s i v e technique, i t i s nonetheless a r o u t i n e procedure i n p r e n a t a l care, and was, t h e r e f o r e , i n c l u d e d i n s c o r i n g p a t i e n t knowledge regarding r i s k s a s s o c i a t e d with p r e n a t a l procedures. For the most p a r t , the number of informed p a t i e n t s i n Ql remained the same i n Q2 across a l l groups, m a i n t a i n i n g an average of 75% of women r e c o g n i z i n g that there i s no known r i s k of having a m i s c a r r i a g e due to u l t r a s o u n d . R e s u l t s from t h i s q u e s t i o n are i n c l u d e d i n F i g u r e 5. In a d d i t i o n to i n f o r m a t i o n regarding r i s k s a s s o c i a t e d with having a p r e n a t a l d i a g n o s t i c procedure, p a t i e n t s were a l s o asked what they thought was the approximate r i s k of having a m i s c a r r i a g e i n the f i r s t twelve weeks of pregnancy. As seen i n F i g u r e 6, the r e s u l t s form t h i s e n try r e v e a l that 59 FIGURE 5. Q1: PATIENT RECALL OF RISK WITH ULTRASOUND % W H O R E S P O N D E D AMA ONLY • i I N F O R M E D AMA PLUS AMA COMPLEX H U N I N F O R M E D 1111 N O R E C A L L Q2: PATIENT RECALL OF RISK WITH ULTRASOUND % W H O R E S P O N D E D 100 -AMA ONLY Mm I N F O R M E D AMA PLUS AMA COMPLEX I U N I N F O R M E D ! ! • N O R E C A L L 6 0 FIGURE 6. Q1: PATIENT RECALL OF MISCARRIAGE RISK IN 1st TRIMESTER WITH NO PROCEDURE % WHO RESPONDED 100 AMA ONLY • 1 INFORMED AMA PLUS I UNINFORMED AMA COMPLEX NO RECALL Q2: PATIENT RECALL OF MISCARRIAGE RISK IN 1st TRIMESTER WITH NO PROCEDURE % WHO RESPONDED 100 AMA ONLY MM INFORMED AMA PLUS AMA COMPLEX 1 UNINFORMED 111 NO RECALL 61 the p a t i e n t s were very unaware of the magnitude of t h i s r i s k i n comparison to the r i s k estimates given regarding p r e n a t a l t e s t i n g . In Q l , the p r o p o r t i o n of informed p a t i e n t s were 20% i n AO (N=299), 32% i n AP (N=50), and 16% i n AC (N=35). In Q2, the number of informed p a t i e n t s were 21% i n AO (N=297), 33% i n AP (N=48), and 26% i n AC (N=35), demonstrating only a sm a l l i n c r e a s e i n the number of informed p a t i e n t s i n AC. Based on the i n f o r m a t i o n provided with respect to options a v a i l a b l e i n p r e n a t a l t e s t i n g f o r f u t u r e pregnancies, the p a t i e n t s were a l s o asked which procedures they would or would not have, and why. With resp e c t to p r e n a t a l d i a g n o s i s by amniocentesis, 79% of the p a t i e n t s i n AO (N=295), 69% i n AP (N=49), and 71% i n AC (N=31) s a i d that they would choose to have t h i s method of t e s t i n g i n the event of a f u t u r e pregnancy. CVS was chosen by 52% of the p a t i e n t s i n AO (N=272), 61% i n AP (N=46), and 30% i n AC (N=30). F i n a l l y , u l t r a s o u n d was chosen by 97% i n AO (N=293), 96% i n AP (N=49), and 97% i n AC (N=31). One of the reasons given f o r not choosing a p a r t i c u l a r method of t e s t i n g i n c l u d e d the r e f u s a l to choose CVS due to i t s higher reported r i s k of m i s c a r r i a g e i n comparison to amniocentesis: 10% of the p a t i e n t s i n AO (N=311), 10% i n AP (N=52), and 3% i n AC (N=36). Knowledge i n Problems Regarding Abnormal R e s u l t s A l l p a t i e n t s who p a r t i c i p a t e d i n t h i s study were at increased r i s k of having a baby with a chromosomal problem. 62 For t h i s reason, p a t i e n t s were asked i f they were f a m i l i a r with the s o r t s of problems that people with Down's syndrome exper ience. P a t i e n t s i n a l l three groups i d e n t i f i e d s e v e r a l problems a s s o c i a t e d with Down's syndrome. The most common problems were mental r e t a r d a t i o n (approximately 70% i n AO (N=311), AP (N=52), and AC (N=36)), p h y s i c a l l y handicapped* (20% i n AO (N=311), 35% i n AP (N=52), and 19% i n AC (N=36)), and heart problems (15% i n AO (N=311), 27% i n AP (N=52), and 28% i n AC (N=36)). Other problems which were i d e n t i f i e d by approximately 15% of the p a t i e n t s i n each group i n c l u d e d a short l i f e - s p a n , an unusual f a c i a l appearance, and b e h a v i o u r a l problems. The p a t i e n t s ' source of i n f o r m a t i o n regarding problems a s s o c i a t e d with Down's syndrome was not requested i n t h i s q u e s t i o n . P a t i e n t s were a l s o asked i f they were f a m i l i a r with the s o r t s of problems experienced by people with a n e u r a l tube d e f e c t . In most g e n e r a l terms, 24% of the p a t i e n t s i n AO (N=311), 27% i n AP (N=52), and 42% i n AC (N=36) s a i d that these people are p h y s i c a l l y handicapped. Other more s p e c i f i c problems i n c l u d e d p a r a l y s i s (29% i n AO (N=311), 23% i n AP (N=52), and 33% i n AC (N=36)), s k e l e t a l a b n o r m a l i t i e s (15% in AO (N=311), 15% i n AP (N=52), and 23% i n AC (N=36)), and * = exact d e f i n i t i o n of t h i s problem not p r o v i d e d . retardation (12% in AO (N=311), 25% in AP (N=52), and 6% in AC (N=36). In order to explore whether or not the women had considered the repercussions of having an abnormal pregnancy, they were also asked what would be the most s i g n i f i c a n t problem for them i f they were to have a baby with Down's syndrome. The four most common problems i d e n t i f i e d in each group were having to worry about who would care for the ch i l d once the parents grew old (27% in AO (N=311), 25% in AP (N=52), and 22% in AC (N=36)), coping with the problems associated with the syndrome (30% in AO (N=311), 27% in AP (N=52), and 22% in AC (N=36)), the effect i t would have on their family l i f e (15% in AO (N=311), 29% in AP (N=52), and 17% in AC (N=36), and the emotional stress and lack of patience they would experience (15% in AO (N=311), 17% in AP (N=52), and 11% in AC (N=36). State Anxiety and Feelings about Prenatal Diagnosis Women who are e l i g i b l e for prenatal diagnosis may experience a variety of emotions. The various responses may be induced depending upon their indication for prenatal testing, through learning about the potential problems associated with childbearing at an advanced maternal age, or from making a decision to have an invasive prenatal procedure. In both questionnaires, patients were asked how anxious 64 they were feeling at that moment on a scale from 1 to 4. Referring back to Table 1, patients in AO were, therefore, revealing their feelings in Ql post-counselling and immediately before their procedure, patients in groups AP and AC were stating their feelings in Ql immediately before their genetic counselling session, and patients in a l l three groups revealed in Q2 how they were feeling after their procedure. Even though most of the patients in each group completed both Ql and Q2 on the same day (85% in AO (N=311), 44% in AP (N=52), and 50% in AC (N=36) , there exist l i m i t a t i o n s of this analysis regarding the ef f e c t of variable time. For example, those patients who completed Q2 within four weeks after their procedure may have been less anxious than those who completed Q2 immediately after their procedure. A description of the timing of questionnaire completion and i t s pote n t i a l e f f e c t on the results w i l l be included in the discussion. The state anxiety decreased from before having a procedure to after having a procedure for a l l groups. In Ql, the majority of patients in each group f e l t somewhat anxious to moderately anxious. Once the procedure was complete, the majority of patients in AO and AP f e l t somewhat anxious to not at a l l anxious. In AC, however, the majority of patients remained somewhat anxious to moderately anxious. These results are presented in Figures 7-9. In the second questionnaire, the same type of question 65 FIGURE 7. ANXIETY STATE: AMA ONLY somewhat 30% PRE-PROCEDURE N=304 not at al somewhat 42% 16% POST-PROCEDURE N=303 66 FIGURE 8. ANXIETY STATE: AMA PLUS somewhat 35% PRE-PROCEDURE N=52 somewhat 39% moderately so 26% POST-PROCEDURE N=51 6 7 FIGURE 9. ANXIETY STATE: AMA C O M P L E X somewhat 26% PRE-PROCEDURE N=34 somewhat 48% 26% POST-PROCEDURE N=35 was also used to ask patients how anxious they were feeling regarding the test results (see Figure 10). In this case, the majority of patients in a l l three groups were fee l i n g somewhat anxious to moderately anxious. In addition to t h i s , more patients in AP (27%, N=304), and AC (23%, N=35) f e l t very anxious regarding the test results than those who f e l t very anxious once the procedure was complete (8% in AP (N=303), 3% in AC (N=35)). In response to the Subjective Stress Scale, most of the patients in a l l three groups progressed from feeling nervous in Ql (31% in AO (N=275), 35% in AP (N=43), and 44% in AC (N=34)) to feeling fine in Q2 (31% in AO (N=238), 25% in AP (N=48), and 22% in AC (N=36)). Patients who chose more than one item to best describe how they were feeling in either Ql or Q2 were not included in the analysis of th i s question. The results from the A-State scale of the State-Trait Anxiety Inventory were tabulated for each patient using a scoring key provided by Consulting Psychologists Press (Spielberger et a l . , 1970). A score could range from a minimum of 20 to a maximum of 80. In each group, the scores were averaged to give a f i n a l score of 37.41 in AO (N=264), 40.77 in AP (N=44), and 42.72 in AC (N=34). Additional Comments Additional comments were made by the patients with respect to their o v e r a l l experience with prenatal diagnosis 69 FIGURE 10. ANXIETY STATE: TEST RESULTS somewhat 51% not at all 9% very much s o 14% moderately so 26% AMA ONLY N=304 somewhat 36% moderately s o 27% not at all 10% very much so 27% AMA PLUS N=52 70 f o r advanced maternal age. F i r s t of a l l , 74% of the p a t i e n t s i n AO (N=311), 69% i n AP (N=52), and 69% i n AC (N=36) s a i d that nothing had happened durin g the procedure that they had not expected. At the end of Q2, the p a t i e n t s were asked how s a t i s f i e d they were with the o v e r a l l c o u n s e l l i n g they r e c e i v e d . On a s c a l e from (1) very s a t i s f i e d to (4) q u i t e d i s a p p o i n t e d , the m a j o r i t y of p a t i e n t s i n a l l three groups s a i d that they were very s a t i s f i e d : 64% i n AO (N=300), 78% in AP (N=51), and 80% i n AC (N=35). F i n a l l y , a s e c t i o n reserved at the end of each q u e s t i o n n a i r e f o r any comments revealed that p a t i e n t s i n each group (16% i n AO (N=311), 33% i n AP (N=52), and 19% i n AC (N=36)) were very impressed by the s t a f f i n v o l v e d i n the a c t u a l p r e n a t a l procedure. They were d e s c r i b e d as very f r i e n d l y , s u p p o r t i v e , and i n f o r m a t i v e . A D e s c r i p t i v e Comparison Between the Complete Data Set and an  Incomplete Data Set (Ql Only) Subject s were i n c l u d e d i n t h i s study based on e l i g i b i l i t y f o r p r e n a t a l d i a g n o s i s and a b i l i t y to read and wr i t e E n g l i s h . Those who d i d not meet these c r i t e r i a were excluded from t h i s study, and, t h e r e f o r e , were never given a q u e s t i o n n a i r e . As mentioned p r e v i o u s l y , there were 38 women who d i d meet these c r i t e r i a and completed Q l , but not Q2 f o r va r i o u s reasons. T h i s subset of women comprised 24 AO p a t i e n t s , 11 AP p a t i e n t s , and 3 AC p a t i e n t s . A d e s c r i p t i v e a n a l y s i s of the data c o l l e c t e d from t h i s subset of p a t i e n t s showed that there were no apparent d i f f e r e n c e s between t h e i r Ql responses and the Ql responses of the p a t i e n t s who completed both q u e s t i o n n a i r e s . 72 Chapter Seven D i s c u s s i o n The present study suggests that the e f f e c t i v e n e s s of the ge n e t i c c o u n s e l l i n g process regarding a g e - r e l a t e d r i s k s and p r e n a t a l d i a g n o s i s w i l l vary depending upon the p a t i e n t ' s emotional r e a c t i o n and i n d i v i d u a l circumstances regarding t h e i r involvement with p r e n a t a l d i a g n o s i s . For the most p a r t , the g e n e t i c c o u n s e l l i n g provided by medical g e n e t i c i s t s , g e n e t i c c o u n s e l l o r s , and primary care p h y s i c i a n s has been shown to be i n f o r m a t i v e and s u p p o r t i v e f o r p a t i e n t s . However, the r e s u l t s suggest that the f a c t u a l i n f o r m a t i o n provided i n c o u n s e l l i n g may not always be the d e c i d i n g f a c t o r i n the p a t i e n t s ' d e c i s i o n to have p r e n a t a l d i a g n o s i s . To f a c i l i t a t e the i n t e r p r e t a t i o n of the r e s u l t s , f i n d i n g s w i l l be d i s c u s s e d i n the order of p r e s e n t a t i o n i n the pr e v i o u s sect i o n . A D e s c r i p t i o n of the Sample The sample of women i n v o l v e d i n t h i s study r e p r e s e n t s a p o p u l a t i o n of women who are pregnant at an advanced maternal age (35 years and over at EDC). For the most p a r t , the women in each group were approximately 37 years of age, Caucasian, P r o t e s t a n t , and had a post-secondary education of two or more ye a r s . The o b s t e t r i c h i s t o r y r e v e a l e d that most of the women were pregnant f o r at l e a s t the second time, and had experienced one or more l o s s e s (spontaneous a b o r t i o n s ) . 73 In choosing to have a prenatal diagnostic procedure, the patient's age and indication for prenatal diagnosis played an important role. Due to a limited time schedule committed for CVS procedures at Grace Hospital, Vancouver, B.C., patients with f i r s t of a l l , genetic indications, and secondly, greatest age, have p r i o r i t y . Therefore, the fact that amniocentesis was the chosen procedure for the majority of women in each group does not suggest that there i s a greater desire for amniocentesis than CVS. The Reasons for Having Prenatal Diagnosis The main reasons for the patients to have prenatal diagnosis were (a) because they were in a high risk age group, and (b) because they did not want to have an abnormal baby, regardless of their r i s k . Another reason which was i d e n t i f i e d by patients in AP and AC was a personal or family history of a genetic disorder. This was to be expected given the d e f i n i t i o n s of the three groups based on indications for prenatal diagnosis. A t o t a l of eight patients in the entire study group responded that their most important reason to come for prenatal diagnosis was to find out the sex of the baby. Seven of these patients came from the community (AO), and one was referred to the Department of Medical Genetics due to a minor complication (AP). Through looking at these individual patients more cl o s e l y , i t was observed that 4 of the 8 patients were East Indian, practicing either the Sikh (2) or Hindu (2) r e l i g i o n , and one patient was Chinese Roman Catholic. The remaining three patients had l e f t the entries asking their ethnic o r i g i n and re l i g i o u s a f f i l i a t i o n blank. Given the fact that there were only four East Indian patients who participated in this entire study, t h i s suggests that a correlation exists between East Indians and the use of prenatal diagnosis for sex determination. Therefore, the counselling process for such patients should concentrate on the c u l t u r a l significance of sex determination in addition to the risks associated with advanced maternal age. The Reasons for Wanting Prenatal Diagnosis A l l women in t h i s study have at least age as a common indication for prenatal diagnosis. However, the most important reason for wanting to have a prenatal test w i l l depend on each i n d i v i d u a l and her personal experience with prenatal diagnosis. The f i r s t and second most important reasons for wanting PND were (1) to have the option to terminate an abnormal pregnancy, and (2) to relieve anxiety by knowing that the baby's chromosomes were normal, respectively. A t h i r d reason given for wanting PND was to prepare for an abnormal pregnancy. This option was included in thi s question to assess how many women would not choose to terminate an abnormal pregnancy when given the opportunity. 75 U n f o r t u n a t e l y , the r e s u l t s make t h i s assessment d i f f i c u l t to make s i n c e there were women i n a l l three groups who chose (1) as t h e i r most important reason, and the o p p o r t u n i t y to prepare f o r an abnormal baby as t h e i r second or t h i r d most important reason. By responding with "to terminate" and "to not terminate" i n that order to the same q u e s t i o n , t h i s r esearcher concludes that e i t h e r the women d i d not understand the q u e s t i o n or that they d i d understand i t , but are undecided as to what they would do i f an abnormal r e s u l t was found. The Decision-Making Process Regarding P r e n a t a l Diagnosis The r e s u l t s show that the m a j o r i t y of p a t i e n t s i n each group had thought about or considered having PND p r i o r to r e c e i v i n g any s p e c i f i c i n f o r m a t i o n , f o r example, r i s k of m i s c a r r i a g e , e l i g i b i l i t y , e t c . T h i s suggests that there e x i s t s an awareness w i t h i n the community reg a r d i n g the a v a i l a b i l i t y of t h i s s e r v i c e , and, subsequently, a corresponding i n t e r e s t . I t has a l s o been suggested i n s t u d i e s s i m i l a r to t h i s one that women may make d e c i s i o n s regarding p r e n a t a l t e s t i n g i n the absence of r e l e v a n t i n f o r m a t i o n , and that the g e n e t i c c o u n s e l l i n g process serves to reassure them by p r o v i d i n g i n f o r m a t i o n that helps them f e e l c o n f i d e n t i n t h e i r d e c i s i o n (Sorenson, 1981). The p r o v i s i o n of accurate i n f o r m a t i o n regarding s p e c i f i c r i s k s and medical techniques i s very important to ensure that an informed consent i s given to have p r e n a t a l d i a g n o s i s . In 76 t h i s study, a l a r g e number of women i n a l l three groups had r e c e i v e d the bulk of t h e i r i n f o r m a t i o n from t h e i r f a m i l y doctor or o b s t e t r i c i a n . P a t i e n t s i n AP had most probably never seen a g e n e t i c c o u n s e l l o r p r i o r to the time when Ql was completed. In a d d i t i o n to t h i s , p a t i e n t s i n AP or AC may have p e r c e i v e d the medical g e n e t i c i s t s and g e n e t i c c o u n s e l l o r s as " d o c t o r s , " making the f a m i l y doctor the main source of i n f o r m a t i o n f o r 23% of the p a t i e n t s i n AP (N=52) and 43% i n AC (N=36) an o v e r e s t i m a t i o n . Perhaps the p a t i e n t s i n groups AP and AC could have i d e n t i f i e d t h e i r main source of i n f o r m a t i o n more s p e c i f i c a l l y i f the design of t h i s q u e s t i o n had i n c l u d e d a medical g e n e t i c i s t or a g e n e t i c c o u n s e l l o r as an a v a i l a b l e response. The r o l e of the g e n e t i c c o u n s e l l o r i s to p r o v i d e the necessary i n f o r m a t i o n a p a t i e n t needs to make an informed consent regarding p r e n a t a l d i a g n o s i s . In a d d i t i o n to t h i s , c o u n s e l l o r s should p r o v i d e the p a t i e n t with support and complete autonomy throughout t h e i r decision-making p r o c e s s . The r e s u l t s from t h i s study r e v e a l that the i n d i v i d u a l s who were i d e n t i f i e d as being the most r e s p o n s i b l e f o r p r o v i d i n g them with the necessary i n f o r m a t i o n were a l s o i d e n t i f i e d as the most h e l p f u l to them i n making t h e i r d e c i s i o n s to have p r e n a t a l d i a g n o s i s . The q u e s t i o n of whether or not they experienced autonomy i n t h e i r decision-making process cannot be assessed from the data a v a i l a b l e , but w i l l be d i s c u s s e d i n 77 a subsequent research study i n v o l v i n g the sample of women reported here. The E f f e c t i v e n e s s of Genetic C o u n s e l l i n g Regarding Age- Related Risks and P r e n a t a l Diagnosis The o b j e c t i v e of g e n e t i c c o u n s e l l i n g i s to impart enough i n f o r m a t i o n to p a t i e n t s to enable them to make a t r u l y informed d e c i s i o n . For the purpose of t h i s study, the g e n e t i c c o u n s e l l i n g p r o v i d e d by primary care p h y s i c i a n s , medical g e n e t i c i s t s , and g e n e t i c c o u n s e l l o r s was assessed by determining how informed the p a t i e n t s were through t h e i r a b i l i t y to recognize and understand a s e r i e s of r i s k estimates r e l a t e d to advanced maternal age and having a p r e n a t a l d i a g n o s t i c procedure. Given the data c o l l e c t e d from q u e s t i o n s r e q u i r i n g p a t i e n t s to r e c a l l numerical r i s k estimates, there were missing cases i n both q u e s t i o n n a i r e s and w i t h i n a l l three groups of p a t i e n t s . T h i s causes a problem i n the a n a l y s i s of the r e s u l t s s i n c e i t i s unknown as to whether or not a p a r t i c u l a r q u e s t i o n was l e f t blank because the p a t i e n t was uninformed or could not remember the answer or i f she d i d not read or understand the q u e s t i o n . In the event that p a t i e n t s l e f t q u e s t i o n s blank because they were uninformed or could not remember the s p e c i f i c r i s k e s t i m ates, t h i s could suggest that t h e i r g e n e t i c c o u n s e l l i n g process was inadequate i n p r o v i d i n g them with the necessary 78 i n f o r m a t i o n that p a t i e n t s need to make an informed d e c i s i o n . On the other hand, t h i s could a l s o suggest that p a t i e n t s who had, i n f a c t , been c o u n s e l l e d a p p r o p r i a t e l y d i d not remember the r i s k estimates because they may not have been important to them i n making a d e c i s i o n t o have p r e n a t a l d i a g n o s i s . The r e s u l t s presented i n Tables 3-6 support the l a t t e r e x p l a n a t i o n f o r missing cases s i n c e approximately 25% of the p a t i e n t s i n each group l e f t the e n t r i e s r e q u e s t i n g r i s k estimates f o r Down's syndrome and n e u r a l tube d e f e c t s blank a f t e r having r e p o r t e d that they had, i n f a c t , been t o l d these numbers. P a t i e n t s who reported that they had not been t o l d any r i s k estimates and subsequently l e f t a l l e n t r i e s r e q u e s t i n g these numbers blank represented l e s s an 20% of the p a t i e n t s i n each group. In the event that p a t i e n t s r e f r a i n e d from answering q u e s t i o n s because they d i d not read or understand them, the v a l i d i t y of the data presented i n t h i s r e s e a r c h would be q u e s t i o n a b l e . Nonetheless, due to the o b s e r v a t i o n s made thus f a r , i n a d d i t i o n to the f a c t t h at the t o t a l number of missing cases f o r any q u e s t i o n represents a maximum of 20% of the p a t i e n t s i n each group, t h i s researcher concludes t h a t the p r e s e n t a t i o n of the q u e s t i o n n a i r e s used i n t h i s study was not r e s p o n s i b l e f o r the occurrence of missing cases. The e f f e c t i v e n e s s of the g e n e t i c c o u n s e l l i n g process w i l l be d i s c u s s e d w i t h i n each group, t a k i n g i n t o account at 79 which time p a t i e n t s r e c e i v e d t h e i r g e n e t i c c o u n s e l l i n g i n r e l a t i o n to Ql and Q2, and from whom the c o u n s e l l i n g was r e c e i v e d . (i) R i s k s a s s o c i a t e d with advanced maternal age. In a l l three groups, a m a j o r i t y of the women s a i d that they had been t o l d t h e i r r i s k of having a baby with Down's syndrome. N e v e r t h e l e s s , not a l l of the women who repor t e d having r e c e i v e d the r i s k s were able to s t a t e what those r i s k s were. T h i s was demonstrated i n both q u e s t i o n n a i r e s , suggesting the i n a b i l i t y of p a t i e n t s to r e c a l l a s p e c i f i c numerical r i s k that i s provided to them i n g e n e t i c c o u n s e l l i n g . The purpose of req u e s t i n g a r i s k estimate at age 30, 40, and the p a t i e n t ' s own age was to see i f the women could at l e a s t recognize the f a c t t h a t a woman's r i s k of having a baby with a chromosomal problem i n c r e a s e s with age. U n f o r t u n a t e l y , t h i s knowledge was not demonstrated s i n c e the ma j o r i t y of the women i n each group responded to what they thought t h e i r own r i s k was, and d i d not respond to r i s k s at age 30 or 40. Perhaps t h i s knowledge could have been revealed i f the qu e s t i o n had been phrased d i f f e r e n t l y . For example, i n s t e a d of asking p a t i e n t s to s t a t e what the r i s k was at age 40, the q u e s t i o n could have asked i f the r i s k at age 40 was g r e a t e r than, l e s s than, or the same as the r i s k at age 30. Looking at each group i n d i v i d u a l l y , the p a t i e n t s i n AO 80 demonstrated an i n c r e a s e i n the number of women who reported having r e c e i v e d t h e i r r i s k (79% (N=304) i n Ql to 93% (N=305) in Q2), and an i n c r e a s e i n the number of informed p a t i e n t s (47% (N=239) i n Ql to 64% (N=285) i n Q2). Given the assumption that these p a t i e n t s had r e c e i v e d t h e i r c o u n s e l l i n g i n the community p r i o r to completing Ql and due to the f i n d i n g s i n Ql and Q2 that show an i n c r e a s e i n the number of informed p a t i e n t s , t h i s researcher concludes that at l e a s t 14% (N=305) of the p a t i e n t s i n AO had r e c e i v e d i n f o r m a t i o n regarding t h e i r r i s k of Down's syndrome at some p o i n t - i n - t i m e between Ql and Q2. T h i s percentage was d e r i v e d by comparing the number of p a t i e n t s who reported r e c e i v i n g t h e i r r i s k i n Ql and Q2. The i n c r e a s e i n the number of informed p a t i e n t s may have r e s u l t e d from e i t h e r p a t i e n t s l e a r n i n g t h e i r r i s k of Down's syndrome f o r the f i r s t time at Grace H o s p i t a l , or being unable to remember the exact number when completing Ql and being reminded at Grace H o s p i t a l . Although the p a t i e n t s ' source of t h i s i n f o r m a t i o n was not i n d i c a t e d , they may have gained t h e i r knowledge from e i t h e r the AMA nurse who reviewed t h e i r r i s k s with them and witnessed them s i g n i n g the consent form to have a p r e n a t a l d i a g n o s t i c procedure, or perhaps from the i n d i v i d u a l s i n v o l v e d i n performing the procedure. R e f e r r i n g to the p a t i e n t s i n AP, the r e s u l t s a l s o show an i n c r e a s e i n the number of p a t i e n t s who reported having r e c e i v e d t h e i r r i s k (79% (N=52) i n Ql to 98% (N=50) i n Q2) as w e l l as an i n c r e a s e i n the number of informed p a t i e n t s (39% (N=41) i n Ql to 60% (N=50) i n Q2). Since the p a t i e n t s in t h i s group r e c e i v e d t h e i r c o u n s e l l i n g r e g a r d i n g a g e - r e l a t e d r i s k s and p r e n a t a l d i a g n o s i s ( i n a d d i t i o n to c o u n s e l l i n g regarding t h e i r p e r s o n a l or f a m i l y h i s t o r y ) between completing Ql and Q2, t h i s researcher concludes that any gain i n knowledge shown by t h i s group of p a t i e n t s may have been due to the c o u n s e l l i n g they r e c e i v e d from a g e n e t i c c o u n s e l l o r . Although the AMA nurse witnessed the s i g n i n g of the consent form by a l l p a t i e n t s having a p r e n a t a l d i a g n o s t i c procedure, a review of t h e i r r i s k s , e t c . was only g i v e n to the p a t i e n t s who were c o u n s e l l e d by t h e i r primary care p h y s i c i a n i n the community. The r e s u l t s from the p a t i e n t s i n AC a l s o show an in c r e a s e i n the number of women who reported having r e c e i v e d t h e i r r i s k (72% (N=36) i n Ql to 100% (N=34) i n Q2) as w e l l as in the number of informed p a t i e n t s (50% (N=26) i n Ql to 59% (N=34) i n Q2). As i n the case for p a t i e n t s i n AP, p a t i e n t s i n AC a l s o r e c e i v e d t h e i r c o u n s e l l i n g between Ql and Q2, thus suggesting t h a t any gain i n knowledge demonstrated by these p a t i e n t s was due to the c o u n s e l l i n g they r e c e i v e d from e i t h e r (or both) a medical g e n e t i c i s t or g e n e t i c c o u n s e l l o r . Since t h i s group of p a t i e n t s has been d e f i n e d as AMA p l u s complex i n d i c a t i o n s f o r p r e n a t a l d i a g n o s i s , i t i s l i k e l y that these p a t i e n t s had been seen p r e v i o u s l y by e i t h e r a medical 82 g e n e t i c i s t or a g e n e t i c c o u n s e l l o r . Nonetheless, the women's r i s k a s s o c i a t e d with AMA would have been g r e a t e r i n t h i s pregnancy, making her o v e r a l l r i s k (AMA r i s k p l u s any a d d i t i o n a l r i s k r e l a t e d to t h e i r i n d i c a t i o n f o r p r e n a t a l d i a g n o s i s ) g r e a t e r as w e l l . ( i i ) Risk a s s o c i a t e d with n e u r a l tube d e f e c t s . The r e s u l t s presented i n F i g u r e 2 suggest that c o u n s e l l i n g f o r n e u r a l tube d e f e c t s (NTDs) was not always a r o u t i n e component of the c o u n s e l l i n g process given to the p a t i e n t s i n t h i s study. T h i s i s not s u r p r i s i n g s i n c e the common i n d i c a t i o n f o r a l l p a t i e n t s i n t h i s study to have p r e n a t a l d i a g n o s i s was because of t h e i r i n c r e a s e d r i s k of having a baby with a chromosomal problem, and not due to t h e i r r i s k of NTDs. As mentioned p r e v i o u s l y , the samples c o l l e c t e d from p a t i e n t s who had had an amniocentesis were t e s t e d for NTDs i n a d d i t i o n to chromosomal a b n o r m a l i t i e s . Given that the m a j o r i t y of the p a t i e n t s i n each group had had an amniocentesis, the r e s u l t s suggest that perhaps these women were not aware of being screened f o r t h i s anomaly, or they were aware but were uninformed re g a r d i n g i t s frequency. The purpose of re q u e s t i n g a r i s k estimate at age 30, 40, and at t h e i r own age was to see i f the p a t i e n t s could recognize that the r i s k of NTDs does not i n c r e a s e with age, and i s constant f o r women of a l l ages. As i n the case with the r i s k of Down's syndrome, t h i s knowledge was not 83 demonstrated since the majority of patients in each group only responded to their own risk of NTDs, and l e f t the risk associated at age 30 and 40 blank. By designing t h i s question in the same manner as the question regarding Down's syndrome, th i s question may have only served to confuse the patients. As in the previous question regarding Down's syndrome, there were also patients in each group who were not able to state what their risk of NTDs was after having reported that they had received t h i s information. The management of missing cases has been discussed previously, suggesting several explanations for the patients' lack of response. In group AO, only 45% of the patients (N=307) stated that they had received their risk in Ql. This suggests that the majority of patients who were counselled by their primary care physician had not been counselled regarding NTDs. In Q2, the number of patients who stated that they had received their risk increased to 80% (N=300), which suggests that there were patients in AO who had been told their risk of NTDs during the time period between completing Ql and Q2. Although the source of the patients' gain in knowledge was not i d e n t i f i e d , i t may have been either the AMA nurse or the individuals involved in performing the procedure who provided patients with this information. Even though the results demonstrate an increase in the number of informed patients in 84 AO (32% (N=139) i n Ql to 43% (N=241) i n Q2), the number of informed p a t i e n t s continued to represent l e s s than a m a j o r i t y of the p a t i e n t s i n each group. With r e f e r e n c e to the r e s u l t s i n Ql f o r groups AP and AC, only 37% (N=51) and 40% (N=35) of the p a t i e n t s , r e s p e c t i v e l y , s t a t e d that they had been t o l d t h e i r r i s k of NTDs. Comparing these r e s u l t s to those i n Q2, the numbers incr e a s e d to 90% i n AP (N=49) and 97% in AC (N=33). T h i s suggests t h a t p a t i e n t s i n groups AP and AC had been t o l d t h e i r r i s k of NTDs i n t h e i r g e n e t i c c o u n s e l l i n g p r o c e s s . The number of informed p a t i e n t s i n each group a l s o i n c r e a s e d from 5% (N=19) i n Ql to 32% (N=44) i n Q2 f o r AP and from 7% (N=14) in Ql to 19% (N=32) i n Q2 f o r AC. Ne v e r t h e l e s s , the o v e r a l l numbers of informed p a t i e n t s i n these groups, as w e l l as i n AO, represent much l e s s than a m a j o r i t y of the p a t i e n t s i n each group. In summary, a t o t a l of 80% or more of the p a t i e n t s i n each group s t a t e d that they had r e c e i v e d t h e i r r i s k of NTDs. When asked to r e c a l l t h e i r r i s k , only 43% or l e s s of the p a t i e n t s i n each group were able to reproduce an informed r i s k estimate and approximately 30% of the p a t i e n t s i n each group had no r e c a l l at a l l . T h e r e f o r e , t h i s researcher concludes t h a t the s p e c i f i c r i s k of NTDs was not important to the m a j o r i t y of the p a t i e n t s i n t h i s study. ( i i i ) R i s k s a s s o c i a t e d with p r e n a t a l d i a g n o s t i c  procedures. A l l of the women in c l u d e d i n t h i s study had experienced having e i t h e r an amniocentesis or a CVS at some p o i n t - i n - t i m e d u r i n g the study p e r i o d . In comparing r e s u l t s in Q l and Q2, a l l three groups demonstrated an i n c r e a s e i n the number of informed p a t i e n t s regarding r i s k s a s s o c i a t e d with p r e n a t a l t e s t i n g . R e s u l t s i n Q2 show t h a t a m a j o r i t y of the p a t i e n t s i n each group were informed. T h i s suggests t h a t , f i r s t of a l l , p a t i e n t s i n AP and AC had r e c e i v e d t h i s i n f o r m a t i o n from the c o u n s e l l i n g provided by medical g e n e t i c i s t s and g e n e t i c c o u n s e l l o r s , and secondly, t h a t p a t i e n t s i n AO had r e c e i v e d t h i s i n f o r m a t i o n a f t e r t h e i r c o u n s e l l i n g and at some p o i n t - i n - t i m e between completing Ql and Q2. The problem of missing cases was not an i s s u e i n t h i s case such that a l l q u e s t i o n s r e l a t e d to p r e n a t a l procedures r e c e i v e d a g r e a t e r than 90% response by the p a t i e n t s i n each group. In comparison to the number of informed p a t i e n t s i n the two p r e v i o u s r i s k assessments (DS and NTDs), the p a t i e n t s were c l e a r l y more informed regarding t h e i r chance of m i s c a r r i a g e due to a procedure than t h e i r r i s k of having an abnormal baby. T h i s could suggest that at the time of p r e n a t a l t e s t i n g , p a t i e n t s were g e n e r a l l y most concerned (due to t h e i r g r e a t e r r e c a l l of the a s s o c i a t e d r i s k s ) about the r e p e r c u s s i o n s from choosing to have a procedure. 86 A l t e r n a t i v e l y , the p a t i e n t s ' source of i n f o r m a t i o n may have provided them with r i s k s a s s o c i a t e d with procedures more o f t e n or more a p p r o p r i a t e l y than r i s k s a s s o c i a t e d with Down's syndrome or NTDs. In a d d i t i o n to the r i s k s a s s o c i a t e d with having a procedure, the p a t i e n t s i n t h i s study (as w e l l as a l l other women who are pregnant) are a l s o faced with a background r i s k of m i s c a r r i a g e d u r i n g t h e i r f i r s t twelve weeks of pregnancy. Genetic c o u n s e l l i n g f o r AMA p a t i e n t s should inform women that p r e n a t a l t e s t s (AMN/CVS) are used to r u l e out chromosomal a b n o r m a l i t i e s and are not capable of a s s u r i n g them of having a normal, h e a l t h y baby. The r e s u l t s show that the p a t i e n t s i n t h i s study were very unaware of the l i m i t a t i o n s of having a p r e n a t a l d i a g n o s t i c t e s t before as w e l l as a f t e r t h e i r c o u n s e l l i n g p r o c e s s . In each group, a m a j o r i t y of the p a t i e n t s thought that t h e i r background r i s k of m i s c a r r i a g e was much lower than i t a c t u a l l y i s . In response to a ge n e r a l a t t i t u d e towards the va r i o u s methods of p r e n a t a l t e s t i n g , the women were most a c c e p t i n g of u l t r a s o u n d , which i s a non-invasive technique and a r o u t i n e component of p r e n a t a l care i n B.C. With re s p e c t to the two most common i n v a s i v e techniques, amniocentesis was more widely accepted than CVS by a l l three groups i n t h i s study. U n f o r t u n a t e l y , t h i s researcher cannot conclude from these r e s u l t s t h at more women p r e f e r amniocentesis over CVS s i n c e 87 p a t i e n t s who knew that they were not e l i g i b l e to have CVS may have chosen a g a i n s t i t . For example, due to age p r i o r i t y , i t would be d i f f i c u l t f o r a 35-year-old pregnant woman to have CVS i f her only i n d i c a t i o n f o r having p r e n a t a l d i a g n o s i s was AMA. I f the q u e s t i o n had asked p a t i e n t s which procedures they would p r e f e r r e g a r d l e s s of e l i g i b i l i t y , perhaps a ge n e r a l a t t i t u d e towards v a r i o u s methods of p r e n a t a l t e s t i n g would have been r e v e a l e d . The Response Regarding Abnormal R e s u l t s The minimal i n d i c a t i o n f o r a l l of the p a t i e n t s i n t h i s study to have p r e n a t a l d i a g n o s i s was advanced maternal age. Given the p o t e n t i a l problems a s s o c i a t e d with c h i l d - b e a r i n g at a l a t e r age, i t was important to i d e n t i f y whether or not the p a t i e n t s were aware of the s o r t s of a b n o r m a l i t i e s that a p r e n a t a l t e s t can screen f o r so that they c o u l d make d e c i s i o n s regarding the management of the remainder of t h e i r pregnancy. In each group, approximately 70% of the p a t i e n t s s t a t e d that c h i l d r e n with Down's syndrome experience mental r e t a r d a t i o n , and about h a l f of these p a t i e n t s a l s o i n d i c a t e d other a s s o c i a t e d problems. In a d d i t i o n to t h i s , l e s s than 30% of the p a t i e n t s i n each group were able t o i d e n t i f y what c h i l d r e n with NTDs experience. The p a t i e n t s ' source of t h e i r i n f o r m a t i o n was not i n d i c a t e d i n these q u e s t i o n s . I t has been d i s c u s s e d p r e v i o u s l y i n t h i s s e c t i o n that 88 greater than 80% of the patients in each group had reported having received their risk of Down's syndrome and NTDs. Taking a l l of these results into account, this suggests that patients may have been informed regarding their risk of having a baby with a NTD without being informed regarding what this abnormality involved. On the other hand, this could also suggest that patients either could not remember what they were told or they may have been told but i n t e n t i o n a l l y disregarded the question because they f e l t that their risk of NTDs was not as important as other r i s k s and concerns. In any event, the effectiveness of counselling regarding neural tube defects appears to be less than the counselling regarding Down's syndrome due to i t s lack of association with advanced maternal age. The Emotional Response to Prenatal Diagnosis It has been well-documented that women experience varying lev e l s of anxiety during their pregnancy, esp e c i a l l y i f and when a prenatal test is elected. The results from this research are no exception to these conclusions. For the purpose of t h i s study, the analysis of patients' emotional response was related to prenatal diagnosis in general, and not related to a s p e c i f i c diagnostic test. Figures 7 through 9 show that the l e v e l of state anxiety and subjective stress decreased in a l l three groups. For the patients in AO, t h i s change in emotions occurred during the 89 time p e r i o d immediately before t h e i r procedure (post-c o u n s e l l i n g ) and immediately a f t e r t h e i r procedure. Those p a t i e n t s who p r e f e r r e d to complete Q2 at home and r e t u r n i t back to t h i s w r i t e r w i t h i n four weeks (before r e c e i v i n g t h e i r t e s t r e s u l t s ) may have f e l t l e s s anxious than the p a t i e n t s who completed Q2 immediately a f t e r t h e i r procedure. N e v e r t h e l e s s , s i n c e there were only 48 of the 311 p a t i e n t s (15%) who d i d not complete Q2 immediately a f t e r t h e i r procedure, the r e s u l t s demonstrate that the m a j o r i t y of p a t i e n t s i n AO experienced a sense of r e l i e f as soon as the p r e n a t a l t e s t was complete. In groups AP and AC, p a t i e n t s a l s o experienced a decrease i n a n x i e t y , although 34% of the p a t i e n t s i n AP (N=51) and 29% of the p a t i e n t s i n AC (N=35) continued to f e e l moderately to very anxious once the procedure was complete. T h i s l e v e l of anx i e t y can be expected of these p a t i e n t s due to t h e i r a d d i t i o n a l concerns r e l a t e d to t h e i r pregnancy. With r e s p e c t to the amount of time elapsed between completing Ql and Q2 i n these groups, a la r g e p r o p o r t i o n of the p a t i e n t s i n AP (44%, N=52) and i n AC (50%, N=36) completed both q u e s t i o n n a i r e s on the same day. In a d d i t i o n to asking p a t i e n t s to ra t e t h e i r l e v e l of s t a t e a n x i e t y at the time of completing Q2, p a t i e n t s were a l s o asked to ra t e t h e i r a n x i e t y regarding t h e i r t e s t r e s u l t s . Comparing the r e s u l t s i n F i g u r e s 7-9 to the r e s u l t s 90 i n F i g u r e 10, the p a t i e n t s ' l e v e l of s t a t e a n x i e t y appears to in c r e a s e once again i n each group, demonstrating approximately the same d i s t r i b u t i o n s as were seen i n t h e i r a n x i e t y experienced pre-procedure. T h i s suggests that women who have PND may experience two stages d u r i n g t h e i r pregnancy where a n x i e t y may be induced: the f i r s t stage i n v o l v e s having the p r e n a t a l d i a g n o s t i c procedure, and the second stage i n v o l v e s w a i t i n g f o r the t e s t r e s u l t s . The a l t e r n a t i v e approach used to measure s t a t e a n x i e t y i n v o l v e d the S t a t e - T r a i t A n x i e t y Inventory (STAI) developed by C D . S p i e l b e r g e r and a s s o c i a t e s i n 1966. For the purpose of t h i s study, the s t a t e - a n x i e t y (A-State) a n a l y s i s was a p p l i e d to p r o v i d e r e l i a b l e , s e l f - r e p o r t measures of s t a t e a n x i e t y at a p a r t i c u l a r moment-in-time. The p a t i e n t s were asked to respond to 20 d i f f e r e n t statements (A-State a n a l y s i s ) i n Q2, thus a f t e r having had t h e i r procedure. In the i n t e r e s t of time and extent of other i n f o r m a t i o n requested of p a t i e n t s i n Ql and Q2, the A-State i n v e n t o r y was only i n c l u d e d i n Q2. Ther e f o r e , t h i s a n a l y s i s served to measure s t a t e a n x i e t y at one s p e c i f i c time rather than changes i n a n x i e t y over a p e r i o d of time. The r e s u l t s from the A-State i n v e n t o r y show that a l l three groups re v e a l e d intermediate s c o r e s . According to S p i e l b e r g e r ' s i n t e r p r e t a t i o n of A-State scores ( S p i e l b e r g e r et a l . , 1970), t h i s suggests that a l l of the p a t i e n t s 91 experienced moderate levels of tension and apprehensiveness. Therefore, even though the three groups of women d i f f e r e d with respect to their indications for PND and who provided them with genetic counselling, the majority of women in each group experienced approximately the same anxiety post-procedure. A Descriptive Comparison Between the Complete Data Set and an Incomplete Data Set A descriptive comparison was made between the complete study group (patients who completed both Ql and Q2) and the incomplete study group (patients who completed Ql only) to determine whether or not there were any indications within the incomplete study group that would have predicted their exclusion from t h i s study. Given that there were no apparent differences observed, this suggests that the patients comprising the incomplete study group were representative of the population from which they were drawn and were excluded from this study by chance alone. Limitations of the Current Study There are several l i m i t a t i o n s which have the po t e n t i a l to influence the results of this study. The method used in thi s study to assess the effectiveness of the genetic counselling process in three groups.of women involved the application of two questionnaires; the f i r s t was to be given p r i o r to 92 c o u n s e l l i n g , and the second to be given p o s t - c o u n s e l l i n g ( a f t e r having a p r e n a t a l t e s t ) . Due to the d i v i s i o n of r e s p o n s i b i l i t y r egarding the p r o v i s i o n of g e n e t i c c o u n s e l l i n g f o r AMA p a t i e n t s , i t was not p o s s i b l e to assess a l l of the p a t i e n t s i n t h i s study before and a f t e r r e c e i v i n g t h e i r g e n e t i c c o u n s e l l i n g . In a d d i t i o n to t h i s , the amount of time elapsed between completing Ql and Q2 v a r i e d w i t h i n each group. For example, although 264 of 311 p a t i e n t s i n AO (85%) completed Ql and Q2 on the same day, the remaining 48 of 311 p a t i e n t s i n AO (15%) completed Q2 w i t h i n four weeks a f t e r t h e i r procedure and before r e c e i v i n g t h e i r t e s t r e s u l t s . In groups AP and AC, most of the p a t i e n t s a l s o completed Ql and Q2 on the same day (44% i n AP (N=52), 50% i n AC (N=36)), although the remaining p a t i e n t s i n these groups completed Q l and Q2 i n a v a r i e t y of ways: (a) p a t i e n t s completed Ql immediately before t h e i r c o u n s e l l i n g and had t h e i r procedure on the same day but completed Q2 w i t h i n four weeks a f t e r t h e i r procedure (25% of the p a t i e n t s i n AP (N=52) and 11% i n AC (N=36)); (b) p a t i e n t s completed Q l and r e c e i v e d t h e i r c o u n s e l l i n g on the same day but had t h e i r procedure and completed Q2 up to two weeks l a t e r (8% of the p a t i e n t s i n AP (N=52) and i n 11% i n AC (N=36)); (c) p a t i e n t s completed Ql and r e c e i v e d t h e i r c o u n s e l l i n g on the same day, had t h e i r procedure up to two weeks l a t e r , and completed Q2 w i t h i n four 93 weeks a f t e r t h e i r procedure (10% of the p a t i e n t s i n AP (N=52) and 14% i n AC (N=36)); and f i n a l l y , (d) p a t i e n t s completed Q l , had t h e i r procedure, and completed Q2 w i t h i n two weeks a f t e r t h e i r procedure (13% of the p a t i e n t s i n AP (N=52) and 14% i n AC (N=36)). The e x i s t e n c e of v a r i a b l e time between the completion of Ql and Q2 should be acknowledged as a l i m i t a t i o n of t h i s study due to i t s p o t e n t i a l to i n f l u e n c e the p a t i e n t s ' r e t e n t i o n r egarding f a c t u a l i n f o r m a t i o n r e c e i v e d through c o u n s e l l i n g , as w e l l as t h e i r s t a t e a n x i e t y r e g a r d i n g t h e i r involvement with p r e n a t a l d i a g n o s i s . Other l i m i t a t i o n s of t h i s study i n v o l v e whether or not i t was the p a t i e n t ' s f i r s t experience with having a p r e n a t a l d i a g n o s t i c procedure (AMN/CVS), and which procedure was e l e c t e d i n t h i s pregnancy. P a t i e n t s who had experienced having a p r e n a t a l d i a g n o s t i c procedure i n a p r e v i o u s pregnancy were i n c l u d e d i n t h i s study because i t was t h e i r knowledge of r i s k s a s s o c i a t e d with t h e i r present pregnancy that was r e l e v a n t . Nonetheless, these p a t i e n t s may not have been as anxious as the p a t i e n t s who had never experienced having a procedure because they may have known what to expect. In a d d i t i o n to t h i s , the choice of procedure may have a l s o played a r o l e r e g a r d i n g the p a t i e n t s ' s t a t e anxiety i n each group. For example, the p a t i e n t s who had had an amniocentesis would have been f u r t h e r along i n t h e i r 94 pregnancy than those who had had a CVS, and would, t h e r e f o r e , have had more time to experience f e t a l - m a t e r n a l bonding through movement or v i s i o n by u l t r a s o u n d (Spencer & Cox, 1988). T h i s attachment may have caused a n x i e t y i n c r e a s e s above t h a t of the CVS p a t i e n t s . On the other hand, the p a t i e n t s who had had a CVS at Grace H o s p i t a l would have been faced with a s l i g h t l y higher r i s k of procedure than the p a t i e n t s who had had an amniocentesis. T h e r e f o r e , p r e v i o u s experience with p r e n a t a l d i a g n o s i s and the nature of the method used are v a r i a b l e s that have the p o t e n t i a l to' i n f l u e n c e the r e s u l t s of t h i s study. With r e f e r e n c e to the number of informed p a t i e n t s a f t e r having had t h e i r procedure, there was a l s o the p o s s i b i l i t y of an i n t e r v e n t i o n e f f e c t due to the a p p l i c a t i o n of two q u e s t i o n n a i r e s . For example, p a t i e n t s who may not have been informed i n Ql may have been more informed i n Q2 because they had asked the i n d i v i d u a l ( s ) p r o v i d i n g them with g e n e t i c c o u n s e l l i n g the answers to the q u e s t i o n s that they d i d not know. T h e r e f o r e , p a t i e n t s may have done b e t t e r i n Q2 because they had taken Q l . The i s s u e of missing data was a common concern f o r s e v e r a l q u e s t i o n s i n t h i s survey, e s p e c i a l l y with r e s p e c t to the q u e s t i o n s that asked p a t i e n t s to r e c a l l t h e i r r i s k s a s s o c i a t e d with having an abnormal baby. A poor response rate may cause a problem i n the a n a l y s i s because i t can p l a c e 95 doubt on the interpretation of results for various questions. Nevertheless, given that the patients in each group responded poorly to only c e r t a i n questions in both Ql and Q2, t h i s suggests that i t was the information s p e c i f i c a l l y that caused the patients to respond poorly and not the f a i l u r e of the questionnaire to ask for the information. Through this writer's experience in meeting with a l l patients, either before their genetic counselling appointment or immediately before and after their procedure, th i s researcher collected observational data that may have contributed to the impact in which prenatal diagnosis placed on the patients in each group. F i r s t of a l l , the patients' composure ranged from very pleasant, calm, and cooperative to very upset, nervous, and unfriendly. Those patients whose appointments were la t e r on in the morning or afternoon were often kept waiting prior to procedure for long periods of time, due to previous patients taking longer than expected or emergencies which took precedence over prenatal diagnostic procedures. F i n a l l y , those patients who had CVS often experienced great discomfort prior to procedure because of the necessity for a f u l l bladder at procedure. Since a l l of these observations were found equally among patients in a l l three groups, the p o t e n t i a l to influence the patients' state anxiety or their a b i l i t y to r e c a l l information was cons is t e n t . 96 C o n c l u s i o n I t has been reviewed i n the l i t e r a t u r e that an assessment of the e f f e c t i v e n e s s of g e n e t i c c o u n s e l l i n g can be accomplished through measuring how informed p a t i e n t s are r e g a r d i n g the i n f o r m a t i o n presented t o them i n t h e i r c o u n s e l l i n g p r o c e s s . Using t h i s method of assessment, the present f i n d i n g s suggest that informing p a t i e n t s regarding numerical r i s k estimates i s not always what c o n s t i t u t e s an e f f e c t i v e g e n e t i c c o u n s e l l i n g p r o c e s s . The c o n s i s t e n t lack of r e c a l l of i n f o r m a t i o n a f t e r p a t i e n t s have s t a t e d that they had been t o l d the i n f o r m a t i o n requested of them suggests that knowledge p e r t a i n i n g to a c t u a l r i s k estimates may not have been important or necessary f o r p a t i e n t s i n making t h e i r d e c i s i o n whether or not to have p r e n a t a l d i a g n o s i s . A l t e r n a t i v e l y , t h i s i n f o r m a t i o n may have been r e l e v a n t but incomprehensible to the p a t i e n t i n q u a n t i t a t i v e terms. In the event where p a t i e n t s had understood the i n f o r m a t i o n presented to them i n a manner other than how i t was presented t o them, t h e i r knowledge and understanding would not have been acknowledged by the q u e s t i o n n a i r e s used i n t h i s study. A d d i t i o n a l f i n d i n g s r e l a t e d to r i s k p e r c e p t i o n , reasons f o r "having" and "wanting" p r e n a t a l d i a g n o s i s , and a n x i e t y f e l t throughout the process imply that the p a t i e n t s ' knowing that some r i s k was present at a l l , be i t b i g or s m a l l , was what was important f o r most p a t i e n t s i n t h i s study. These o b s e r v a t i o n s c o i n c i d e with the e a r l y i n v e s t i g a t i o n s made by Lippman-Hand and F r a s e r (1979), demonstrating p a t i e n t s ' b i n a r y response to r i s k i n f o r m a t i o n . D e s p i t e the l e v e l s of no r e c a l l , missing data a f t e r c o n f i r m a t i o n of r e c e i v i n g i n f o r m a t i o n , and l e s s than a m a j o r i t y of a l l p a t i e n t s being informed p o s t - c o u n s e l l i n g , the m a j o r i t y of p a t i e n t s i n each group were very s a t i s f i e d with the g e n e t i c c o u n s e l l i n g that they had r e c e i v e d . T h i s suggests t h a t the d e c i s i o n to have p r e n a t a l d i a g n o s i s i s not always based on the f a c t u a l i n f o r m a t i o n (numerical r i s k estimates) provided to them i n c o u n s e l l i n g . T h e r e f o r e , although not a l l of the p a t i e n t s i n each group were informed regarding r i s k s a s s o c i a t e d with AMA and p r e n a t a l d i a g n o s i s , t h e i r s a t i s f a c t i o n with the c o u n s e l l i n g r e c e i v e d suggests that t h e i r needs were met with or without such i n f o r m a t i o n . In c o n c l u s i o n , the e f f e c t i v e n e s s of the g e n e t i c c o u n s e l l i n g process regarding a g e - r e l a t e d r i s k s and p r e n a t a l d i a g n o s i s does not appear to be r e l a t e d to those who provided the p a t i e n t s with g e n e t i c c o u n s e l l i n g or the p a t i e n t s ' a b i l i t y to r e c a l l f a c t u a l i n f o r m a t i o n . C o u n s e l l i n g e f f o r t s by primary care p h y s i c i a n s w i t h i n the community and by medical g e n e t i c i s t s and g e n e t i c c o u n s e l l o r s i n the Department of M e d i c a l G e n e t i c s may r e q u i r e a l t e r n a t i v e methods i n p r e s e n t i n g the f a c t u a l i n f o r m a t i o n r e l e v a n t to AMA 98 c o u n s e l l i n g . 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E v a l u a t i o n of g e n e t i c c o u n s e l l i n g : R e c a l l of i n f o r m a t i o n , p o s t -c o u n s e l l i n g r e p r o d u c t i o n , and a t t i t u d e of the c o u n s e l l e e s . C l i n i c a l G e n e t i c s , 34, 352-365. Sorenson, J.R., Swazey, J.P., & Scotch, N.A. (1981). Is g e n e t i c c o u n s e l l i n g e f f e c t i v e ? Reproductive p a s t s , r e p r o d u c t i v e f u t u r e s : Genetic c o u n s e l l i n g and i t s e f f e c t i v e n e s s . B i r t h D e f e c t s : O r i g i n a l A r t i c l e S e r i e s , 17(4), 7-14. Sorenson, J.R., Swazey, J.R., & Scotch, N.A. (1981). E f f e c t i v e g e n e t i c c o u n s e l l i n g : D i s c u s s i n g c l i e n t questions and concerns. Reproductive p a s t s , r e p r o d u c t i v e f u t u r e s : G e n e t i c c o u n s e l l i n g and i t s e f f e c t i v e n e s s . B i r t h D e f e c t s :  O r i g i n a l A r t i c l e S e r i e s , r 7(4), 51-77. Sorenson, J.R., Swazey, J.P., & Scotch, N.A. (1981). E f f e c t i v e g e n e t i c c o u n s e l l i n g : More informed c l i e n t s . . Reproductive p a s t s , r e p r o d u c t i v e f u t u r e s : Genetic c o u n s e l l i n g and i t s e f f e c t i v e n e s s . B i r t h D e f e c t s : O r i g i n a l A r t i c l e S e r i e s , 17_(4), 79-104. Sorenson, J.R., Swazey, J.P., & Scotch, N.A. (1981). Is g e n e t i c c o u n s e l l i n g e f f e c t i v e ? Reproductive p a s t s , r e p r o d u c t i v e f u t u r e s : Genetic c o u n s e l l i n g and i t s e f f e c t i v e n e s s . B i r t h D e f e c t s : O r i g i n a l A r t i c l e S e r i e s , V7(4), 132-136. S p i e l b e r g e r , C D . (1972). A n x i e t y : Current trends i n theory and r e s e a r c h . New York: Academic P r e s s . S p i e l b e r g e r , CD., Gorsuch, R.L., & Lushene, R.E. (1970). Manual f o r the s t a t e - t r a i t a n x i e t y and i n v e n t o r y . Palo A l t o , C a l i f o r n i a : C o n s u l t i n g P s y c h o l o g i s t s Press. Spencer, J.W., & Cox, D.N. (1987). Emotional responses of pregnant women to c h o r i o n i c v i l l i sampling or amniocentesis. American J o u r n a l of O b s t e t r i c s and Gynecology, 157, 1155-1160. Spencer, J.W., & Cox, D.N. (1988). A comparison of c h o r i o n i c v i l l i sampling and amniocentesis: A c c e p t a b i l i t y of procedure and maternal attachment to pregnancy. O b s t e t r i c s & Gynecology, 72, 714-718. 107 Stewart, M.A., & Buck, C.W. (1977). P h y s i c i a n ' s knowledge of and response to p a t i e n t s ' problems. M e d i c a l Care, 15, 578-585. Thomassen-Brepols, L . J . (1987). P s y c h o l o g i c a l i m p l i c a t i o n s of f e t a l d i a g n o s i s and therapy. F e t a l Therapy, 2, 169-174. Tunis, S.L., Golbus, M.S., Copeland, K.L., F i n e , B.A., Rosinsky, B.J., & S e e l y , L. (1990). P a t t e r n s of mood s t a t e s i n pregnant women undergoing c h o r i o n i c v i l l u s sampling or amniocentesis. American J o u r n a l of M e d i c a l  G e n e t i c s , 37, 191-199. Tversky, A., & Kahneman, D. (1974). Judgement under u n c e r t a i n t y : H e u r i s t i c s and b i a s e s . S c i e n c e , 185 , 1124-1131. Verp, M.S., Bombard, A.T., Simpson, J.L., & E l i a s , S. (1988). P a r e n t a l d e c i s i o n f o l l o w i n g p r e n a t a l d i a g n o s i s of f e t a l chromosome abnormality. American J o u r n a l of M e d i c a l G e n e t i c s , 29, 613-622. V i t a l S t a t i s t i c s of the Province of B r i t i s h Columbia (1978-1988). M i n i s t r y of H e a l t h , P r o v i n c e of B r i t i s h Columbia. Wertz, D.C, & F l e t c h e r , J . C (1988). A t t i t u d e s of g e n e t i c c o u n s e l l o r s : A m u l t i n a t i o n a l survey. American J o u r n a l of  Human G e n e t i c s , 42, 592-600. Wertz, D.C, & Sorenson, J.R. (1986). C l i e n t r e a c t i o n s to g e n e t i c c o u n s e l l i n g : S e l f - r e p o r t s of i n f l u e n c e . C l i n i c a l  G e n e t i c s , 30, 494-502. Wertz, D.C, Sorenson, J.R., & Heeren, T . C (1984 ). Genetic c o u n s e l l i n g and r e p r o d u c t i v e u n c e r t a i n t y . American J o u r n a l of M e d i c a l G e n e t i c s , 18, 78-88. Wertz, D.C, Sorenson, J.R., & Heeren, T.C. (1986). C l i e n t s ' i n t e r p r e t a t i o n of r i s k s p rovided i n g e n e t i c c o u n s e l l i n g . American J o u r n a l of Human Ge n e t i c s , _39, 253-264 . tog APPENDIX A (i) Q u e s t i o n n a i r e 1 ( i i ) Q u e s t i o n n a i r e 2 10 8^. PRENATAL DIAGNOSIS COUNSELLING INFORMATION SURVEY DEPARTMENT OF MEDICAL GENETICS, UNIVERSITY HOSPITAL DEPARTMENT OF FAMILY PRACTICE, GRACE HOSPITAL Principal Investigator: Desmond Dwyer, M.D., & Barbara McGillivray, M.D. QUESTIONNAIRE #1 This questionnaire i s designed to obtain information which w i l l help us ensure that the counselling presentations provide the information that parents need to make informed decision concerning prenatal testing. Please ensure that you have answered a l l questions as accurately as possible. If there i s anything asked of you that you do not have an answer to or are uncertain of, please indicate so. We estimate that this should take you approximately 15 minutes. Completion of the questionnaire implies that you have consented to participate in the study. You have the right to refuse to participate or withdraw from the study at anytime without risk of jeopardizing further treatment or medical care. For our reference only, we need identification on the questionnaire. We suggest that you use your mother's i n i t i a l s and your father's f i r s t name, since these are items you w i l l be able to recall but that do not identify you. The telephone number w i l l only be used to contact you should we not receive your post-counselling questionnaire. Your mother's i n i t i a l s Your father's f i r s t name Your telephone number 1. What age are you? 2. How many times have you been pregnant? Losses Liveborn Living children: Boys Girls How long did i t take you to get pregnant this time? Less than 1 year 2 to 5 years 1 to 2 years Greater than 5 years 4. Did you plan this pregnancy? Yes No 109 5. What is your ethnic background? Caucasian East Indian Chinese Other What i s your religious a f f i l i a t i o n ? Protestant Roman Catholic Sikh Hindu Islam Fundamentalist Buddhist Jewish Other Nil What level of education do you have? Did not complete high school Completed high school Post-secondary Number of years Had you considered having prenatal diagnosis before you were given information from your doctor/medical geneticist or other source? Yes No Why did you come for prenatal diagnosis? Please number in order the reasons as: (1) most important, (2) second most important, (3) etc. If any of these reasons do not apply to you, please leave them blank. You or your family have a history of a genetic disorder. You are in a high risk age group. You wish to hear more about your risks and then decide whether or not to have prenatal diagnosis. You wish to know the sex of the baby. You do not want to have an abnormal baby regardless of the risk. 110 10. Who was most responsible for giving you information about genetic problems (eg. specific risks and/or discussed prenatal diagnosis)? Family doctor Obstetrician Family and friends Media (T.V., radio, newspaper, magazine) Other (please specify) I have not received any information about genetic problems 11. Has anyone helped you in making a decision to have prenatal diagnosis? Please number in order the following sources from: (1) the most helpful to, (5) the least helpful. If no one has helped you to make a decision, please leave the spaces blank. Family doctor Obstetrician Family and friends Media (TV, radio, newspaper, magazine) - Other sources (please specify) 12. a) Have you been told your risks of having a baby with Down Syndrome? No Yes. If yes, what is the approximate risk (for example only, 1/2 or 1/10,000). at age 30 at age 40 at your age b) Do you feel that your risk i s high or low? c) How confident are you in your responses to this question? Please c i r c l e one. very moderately pretty not at a l l confident confident sure confident 1 2 3 4 I l l 13. a) Have you been told your risks of having a baby with a neural tube defect (eg. spina bifida)? No Yes. If yes, what is the approximate risk? at age 30 at age 40 at your age b) Do you feel that your risk i s high or low? c) How confident are you in your responses to this question? Please ci r c l e one. very moderately pretty not at a l l confident confident sure confident 14. a) What sorts of problems do people with Down syndrome have? b) What sorts of problems do people with a neural tube defect have? 15. What would be the most significant problem for you i f you had a baby with Down syndrome? 16. Please c i r c l e what you think i s the approximate risk of having a miscarriage in the f i r s t 12 weeks of pregnancy i f you have no prenatal test. 1/2 1/5 1/50 1/250 1/500 1/1000 no risk don't know 112 17. Please c i r c l e what you think is the risk of having a miscarriage from the following tests. a) Amniocentesis (needle sampling of the f l u i d surrounding the baby in the womb) 1/5 1/500 1/50 1/1000 1/100 no risk 1/200 don't know b) C.V.S. (chorionic v i l l u s sampling, insertion of a tube through the opening in the womb to sample the baby's placenta) 1/5 1/50 1/100 1/500 1/1000 no risk c) Ultrasound (sonogram, sound wave test) 1/5 1/50 1/100 1/500 1/1000 no risk 1/200 don't know 1/200 don't know 18. At the present, would you choose to have the following tests? Please check which response best describes how you feel about each test. no possibly probably yes don't know much about i t Amniocentesis C.V.S. Ultrasound 19. If there are certain tests that you would not choose to have, please indicate which ones and explain why you would not have them. 20. Why would you choose to have prenatal diagnosis? Please number in order the reasons as: (1) most important, (2) second most important, (3) etc. If any of these reasons do not apply to you, please leave them blank. To have the option of terminating an abnormal pregnancy. To relieve my anxiety by knowing that the baby's chromosomes are normal. To prepare for an abnormal child. Other (please specify) 113 21. a) How anxious are you feeling right now? Not at a l l Somewhat Moderately so Very much so 1 2 3 4 b) Which item from the l i s t best describes your feelings right now? Please select only one. Wonderful Steady Comfortable Fine Indifferent Didn't bother me Timid Unsteady Unsafe Nervous Worried Frightened Panicky Scared s t i f f COMMENTS Thank you very much for your time and cooperation. 114 GENETIC COUNSELLING INFORMATION SURVEY DEPARTMENT OF MEDICAL GENETICS, UNIVERSITY HOSPITAL DEPARTMENT OF FAMILY PRACTICE, GRACE HOSPITAL Principal Investigator; Desmond Dwyer, M.D., & Barbara McGillivray, M.D. QUESTIONNAIRE #2 Now that the prenatal test i s completed, a post-procedure questionnaire i s designed to allow you to reflect over your experience here. Please ensure that you have answered a l l questions as accurately as possible. If there is anything asked of you that you do not have an answer to or are uncertain of, please indicate so. We estimate that this should take you approximately 10 minutes. Completion of the questionnaire implies that you have consented to participate in the study. You have the right to refuse to participate or withdraw from the study at anytime without risk of jeopardizing further treatment or medical care. For our reference only, we need identification on the questionnaire. We suggest that you use your mother's i n i t i a l s and your father's f i r s t name, since these are items you w i l l be able to recall but that do not identify you. The telephone number w i l l only be used to contact you should we not receive your post-counselling questionnaire. Your mother's i n i t i a l s Your father's f i r s t name Your telephone number 1. Was there anything you hadn't expected from the prenatal test procedure? ' 115 Read each statement and then c i r c l e the appropriate statement indicating how you feel right now. There are no wrong answers. E-» Please give a response to every one. O I feel calm 1 2 3 4 I feel secure 1 2 3 4 I am tense 1 2 3 4 I am regretful 1 2 3 4 I feel at ease 1 2 3 4 I feel upset 1 2 3 4 I am presently worrying over possible misfortunes 1 2 3 4 I feel rested 1 2 3 4 I feel anxious 1 2 3 4 I feel comfortable 1 2 3 4 I feel self-confident 1 2 3 4 I feel nervous 1 2 3 4 I am j ittery 1 2 3 4 I feel "high strung" 1 2 3 4 I am relaxed 1 2 3 4 I feel content 1 2 3 4 I am worried 1 2 3 4 I feel over-excited and "rattled" 1 2 3 4 I feel joyful 1 2 3 4 I feel pleasant 1 2 3 4 116 3. a) Have you been told your risks of having a baby with Down syndrome? No Yes If yes, what is the approximate risk (for example only, 1/2 or 1/10,000). at age 30 at age 40 at your age b) Do you feel that your risk i s high or low? c) How confident are you in your responses to this question? Please c i r c l e one. very moderately pretty not at a l l confident confident sure confident 4. a) Have you been told your risks of having a baby with a neural tube defect (eg. spina bifida)? No Yes If yes, what is the approximate risk? at age 30 at age 40 at your age b) Do you feel that your risk i s high or low? c) How confident are you in your responses to this question? Please c i r c l e one. very ' moderately pretty not at a l l confident confident sure confident a) What sorts of problems do people with Down syndrome have? b) What sorts of problems do people with a neural tube defect have? What would be the most significant problem for you i f you had a baby with Down syndrome? Please c i r c l e what you think i s the risk of having a miscarriage in the f i r s t 12 weeks of pregnancy i f you have no prenatal test. 1/2 1/5 1/50 1/250 1/500 1/1000 no risk don't know Please c i r c l e what you think i s the risk of having a miscarriage from the following tests. a) Amniocentesis (needle sampling of the f l u i d surrounding the baby in the womb) 1/5 1/50 1/100 1/200 1/500 1/1000 no risk don't know b) C.V.S. (chorionic v i l l u s sampling, insertion of a tube through the opening in the womb to sample the baby's placenta) 1/5 1/50 1/100 1/200 1/500 1/1000 no risk don't know c) Ultrasound (sonogram, sound wave test) 1/5 1/50 1/100 1/500 1/1000 no risk 1/200 don't know 118 9. Please c i r c l e one only. a) How anxious are you feeling right now? Not at a l l Somewhat Moderately so Very much 1 2 3 4 b) How anxious are you regarding the test results? Not at a l l Somewhat Moderately so Very much 1 2 3 4 Wonderful Steady Comfortable Fine Indifferent Didn't bother me Timid Unsteady Unsafe Nervous Worried Frightened Panicky Scared s t i f f 119 11. In the event of a new pregnancy, would you choose to have the follow-ing tests? Please check which response best describes how you feel about each test. no possibly probably yes don't know much about i t Amniocentesis C.V.S. Ultrasound 12. If there are certain tests that you would not choose to have, please indicate which ones and explain why you would not have them. 13. How satisfied are you with the overall counselling you have received? Please c i r c l e one. Very Quite satisfied disappointed COMMENTS Thank you very much for your time and cooperation in f i l l i n g out this questionnaire. Your thoughts and suggestions are much appreciated. \2o APPENDIX B (i) Risk of Down's Syndrome ( i i ) Risk of Neural Tube Defects 1 2 0 ^ CATEGORIES FOR EVALUATING PATIENT RECALL FOR THE RISK OF DOWN'S SYNDROME SOMEWHAT AGE RISK ESTIMATE0 INFORMED INFORMED UNINFORMED 30 1/1140 + 1/300 (1/840-1/1440) + 1/500 (1/640-1/1640) > + 1/500 35 1/360 + 1/100 (1/260-1/460) + 1/150 (1/210-1/510) > + 1/150 36 1/282 + 1/100 (1/182-1/382) + 1/150 (1/132-1/432) > + 1/150 37 1/220 + 1/75 (1/145-1/295) + 1/100 (1/120-1/320) > + 1/100 38 1/170 + 1/75 (1/95-1/245) + 1/100 (1/70-1/270) > + 1/100 39 1/130 + 1/50 ( 1/80-1/180 ) + 1/75 (1/55-1/205) > + 1/75 40 1/100 + 1/50 (1/50-1/150) + 1/75 (1/25-1/175) > + 1/75 41 1/80 + 1.35 (1/45-1/115) + 1/50 (1/30-1/130) > + 1/50 42 1/60 + 1/60 (1/40-1/80) + 1/35 (1/24-1/95) > + 1/35 43 1/48 + 1/15 (1/33-1/63) + 1/20 (1/28-1/68) > + 1/20 44 1/38 + 1/10 (1/28-1/48) + 1/15 (1/23-1/53) > + 1/15 45 1/30 + 1/5 (1/25-1/35) + 1/10 (1/20-1/40) > + 1/10 ° = data derived from B.C. data f o r Down's syndrome and Hook, E.B. (1981), Obstetrics & Gynecology, 58, 282-285. 121 CATEGORIES FOR EVALUATING PATIENT RECALL FOR THE RISK OF NEURAL TUBE DEFECTS SOMEWHAT AGE RISK ESTIMATE0 INFORMED INFORMED UNINFORMED A l l 1/700 + 1/100 + 1/200 > + 1/200 Ages (1/600-1/800) (1/500-1/900) ° = data derived from McBride, M.L., (1979). Sib r i s k s of anencephaly and spina b i f i d a i n B r i t i s h Columbia. American Journal of Medical Genetics, 3, 377-387. 

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