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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  AN OVERVIEW OF COMMUNITY AND  MEDICAL  PRENATAL  DIAGNOSIS:  GENETICS  COUNSELLING  by Karen B.Sc,  L e a h Sedun  The U n i v e r s i t y  THESIS SUBMITTED  o f Manitoba,  1983  IN PARTIAL FULFILLMENT OF  THE REQUIREMENTS FOR THE DEGREE OF MASTER OF SCIENCE in THE FACULTY OF GRADUATE STUDIES ( G e n e t i c s Program)  We a c c e p t t h i s to  thesis  the required  as c o n f o r m i n g standard  THE UNIVERSITY OF BRITISH COLUMBIA JUNE 19 91 (5)  Karen  L e a h Sedun  In  presenting this  degree at the  thesis in  University of  partial  fulfilment  of  of  department  this thesis for or  by  his  or  requirements  British Columbia, I agree that the  freely available for reference and study. I further copying  the  representatives.  an advanced  Library shall make it  agree that permission for extensive  scholarly purposes may be her  for  It  granted  is  by the  understood  that  head of copying  my or  publication of this thesis for financial gain shall not be allowed without my written permission.  Department  of  Medt'cg] Benches  The University of British Columbia Vancouver, Canada  Date  DE-6 (2/88)  (genetics  Froqrntr^)  Abstract The  effectiveness of genetic  associated diagnosis with  with  i n three  who a r e c o u n s e l l e d  AMA p l u s  g r o u p s o f women; t h o s e  by t h e i r  physician or o b s t e t r i c i a n within those with  primary  t h e community  counsellors  complex  indications for prenatal diagnosis  (AC,  counsellors  AMA as w e l l as  such  that  they are  and m e d i c a l g e n e t i c i s t s  N=36).  Patients  were a s k e d  t o complete  i n AO c o m p l e t e d  receiving  counselling  the f i r s t  from t h e i r  community and b e f o r e  procedure.  Patients  Genetics  clinic  Patients  i n a l l three  questionnaire before  leaving  questionnaires  two q u e s t i o n n a i r e s .  questionnaire  primary  a prenatal  before  their  groups completed immediately  the h o s p i t a l or within to receiving their  were d e s i g n e d normally  the emotional  involvement with  care  i n AP and AC c o m p l e t e d  (Q2) e i t h e r  the information  to assess  having  immediately  procedure, p r i o r  of  (AO, N=311),  (AP, N=52), and t h o s e w i t h  by g e n e t i c  Subjects  the  care  a minor c o n c e r n (s) who a r e c o u n s e l l e d by  genetic  counselled  risks  a d v a n c e d m a t e r n a l age (AMA) and p r e n a t a l  (PND) was a s s e s s e d  AMA o n l y  counselling regarding  presented  physician i n  diagnostic Q l at the Medical  genetic  counselling.  the second after their four  test  t o look  (Ql) a f t e r  weeks  results.  at subjects'  procedure postThe knowledge  i n AMA c o u n s e l l i n g and  r e s p o n s e s o f women r e g a r d i n g  PND.  ii  their  P a t i e n t s i n a l l three groups were more informed  in Ql  and Q2 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 having a procedure than r i s k s a s s o c i a t e d with a chromosomal abnormality.  While  a m a j o r i t y of the women i n each group s a i d that they had been told  the r i s k estimates requested of them, the number of  women i n each group who subsequently was  l e s s than a m a j o r i t y .  groups demonstrated was  reproduced  these  figures  F i n a l l y , p a t i e n t s i n a l l three  a decrease  i n a n x i e t y once the procedure  complete. 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  does not appear t o be r e l a t e d t o 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 or the p a t i e n t ' s a b i l i t y t o r e c a l l information.  iii  factual  Table of  Contents Page  Abstract  i i  Table of Contents  iv  List  of Tables  vii  List  of F i g u r e s  viii  Acknowledgements  ix  Introduction  1  Chapter  6  One  Assessing  the E f f e c t i v e n e s s  Counselling Chapter  Process  13 P e r c e p t i o n of Information  Regarding  Prenatal Diagnosis  18  I n v o l v e d i n the  Process Regarding  The  13  Three  Factors  Chapter  6  Two  Knowledge and  Chapter  of the G e n e t i c  Decision-Making Prenatal Diagnosis  18  Four  25  E m o t i o n a l Responses t o P r e n a t a l D i a g n o s i s  25  Conclusion  32  P r e s e n t Study  Chapter  33  Five  .  Method  36 36  Subjects  36  Procedure  38  Presentation  of Data  40  iv  Page Chapter Six  43  Results  43  Background Data Variables  43  Regarding  Prenatal Diagnosis  Risks  Associated  with  Advanced M a t e r n a l  Risks  Associated  with  Neural  Risks  Associated Procedures  with  Prenatal  A n x i e t y and Diagnosis  Age  Tube D e f e c t s  46 51  Diagnostic 55  Knowledge i n P r o b l e m s R e g a r d i n g Results State  45  F e e l i n g s About  Abnormal 61 Prenatal 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 C o m p a r i s o n Between t h e D a t a S e t and an I n c o m p l e t e D a t a (Ql Only)  Complete Set 70  Chapter Seven  72  Discussion  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 Prenatal Diagnosis  75  The  Regarding  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 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 Prenatal Diagnosis (i)  Risks associated m a t e r n a l age  v  with  77  advanced 79  Page (ii)  (iii)  Risk associated with defects  neural  tube 82  Risks 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  The  Response Regarding  The  Emotional  85  Abnormal R e s u l t s  Response t o P r e n a t a l D i a g n o s i s  A D e s c r i p t i v e C o m p a r i s o n Between t h e Data Set Limitations  of  and  an  Incomplete  the C u r r e n t  87 ....  88  Complete  Data Set  Study  91 91  Conclusion  96  References  99  Appendices  108  A p p e n d i x A:  A p p e n d i x B:  Specimen Set of Q u e s t i o n n a i r e s (i) Questionnaire 1 (ii) Questionnaire 2 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 ) R i s k o f Down's Syndrome ( i i ) R i s k o f N e u r a l Tube D e f e c t s  vi  108 114 120 121  List  of  Tables Page  Table 1  Questionnaires  2  Background  #1  & #2:  Times C o m p l e t e d  Data  39 44  vii  List  of Figures Page  Figure 1  Q l & Q2: P a t i e n t R e c a l l o f R i s k  o f Down's  49  2  Q l & Q2: P a t i e n t R e c a l l o f R i s k  o f NTDs  53  3  Q l & Q2: P a t i e n t R e c a l l o f R i s k  with  56  4  Q l & Q2: P a t i e n t R e c a l l o f R i s k  w i t h CVS  5  Q l $ Q2: P a t i e n t R e c a l l o f R i s k  with  6  Q l & Q2: P a t i e n t R e c a l l o f M i s c a r r i a g e R i s k i n 1st Trimester  with  Amnio  Ultrasound  no P r o c e d u r e  57 ..  59  60  7  Anxiety  S t a t e : AMA  Only  65  8  Anxiety  S t a t e : AMA  Plus  66  9  Anxiety  S t a t e : AMA  Complex  67  10  Anxiety  State: Test  Results  viii  69  Acknowledgements The h e l p f u l g u i d a n c e and s u p p o r t o f my t h e s i s c o m m i t t e e 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 : D r . B. M c G i l l i v r a y , D e p a r t m e n t o f M e d i c a l G e n e t i c s ; D r . D. Cox, Simon F r a s e r U n i v e r s i t y ; D r . D. Dwyer, D e p a r t m e n t o f F a m i l y P r a c t i c e ; and D r . J . F r i e d m a n , D e p a r t m e n t o f M e d i c a l Genetics. In p a r t i c u l a r , I would l i k e t o e x p r e s s my s i n c e r e t h a n k s t o my t h e s i s s u p e r v i s o r , D r . B. M c G i l l i v r a y , who has been most g e n e r o u s w i t h h e r t i m e and s u p p o r t t h r o u g h o u t t h e d u r a t i o n o f my m a s t e r ' s p r o g r a m . I would a l s o l i k e t o e x t e n d my g r a t i t u d e t o P a t r i c i a B i r c h f o r h e r h e l p and s u g g e s t i o n s w i t h t h e d a t a management, Ruth M i l n e r f o r h e r g u i d a n c e r e g a r d i n g t h e d a t a a n a l y s i s , and a l l o f t h e s t a f f a t t h e P r e n a t a l A s s e s s m e n t U n i t and t h e D e p a r t m e n t o f M e d i c a l G e n e t i c s f o r b e i n g so p a t i e n t and u n d e r s t a n d i n g d u r i n g my r e s e a r c h . Without the encouragement from a l l o f t h o s e m e n t i o n e d , t h i s p r o j e c t would n o t have been n e a r l y as i n t e r e s t i n g and e n j o y a b l e as i t has b e e n .  ix  1  Part  A  Introduct ion  Genetic having  counselling  a c h i l d with  many women w i s h caused  a chromosomal a b n o r m a l i t y i s a s e r v i c e  t o have.  the maternal  change.  regarding age-related risks f o r  The c h a n g i n g  age d i s t r i b u t i o n  o f women have  a t time o f pregnancy t o  A c c o r d i n g t o V i t a l S t a t i s t i c s Canada  P r o v i n c e o f B r i t i s h Columbia livebirths in  roles  t o women aged  f o r the  (B.C.), the percentage o f t o t a l  35 and o v e r has i n c r e a s e d  1978 t o 9.6% i n 1988.  Although  f r o m 4.4%  t h e number o f t o t a l  p e r y e a r h a s n o t c h a n g e d , t h e number o f women g i v i n g a later the  age h a s .  "baby boom" w h i c h  (Adams, O a k l e y , born the  A major c o n t r i b u t i o n  i n this  occurred i n the middle  & Marks,  time p e r i o d  1982; Hansen, 1 9 8 6 ) . approach  middle  80s and 90s, t h e p e r c e n t a g e o f b i r t h s  advanced this  maternal  age i s i n c r e a s i n g .  delayed childbearing  C h i s m , 1987; R o b i n s o n , Sjogren  & Uddenberg,  personal goals, right  Garner,  1990),  financial  distribution It  Gare,  such  documented  have an i n c r e a s e d  risk  of this  century  A s t h e women  age (35 and o v e r ) i n t o women o f  & C r a w f o r d , 1987;  as c h a n g i n g  p r o f e s s i o n a l or  acquaintance of the  t o be f r e e o f r e s p o n s i b i l i t y . this shift  trend  i s imposing  from a  i n t h e m a t e r n a l age  has i m p o r t a n t m e d i c a l  i s well  statistic is  S e v e r a l reasons f o r  s t a b i l i t y , late  of the e f f e c t s  social point-of-view, this  birth at  have been d i s c u s s e d (Lehmann &  p a r t n e r , and t h e w i s h  Irrespective  age  to this  births  implications.  t h a t women o f a d v a n c e d  maternal  o f h a v i n g a c h i l d w i t h Down's  2  syndrome and o t h e r  chromosomal a b n o r m a l i t i e s  Simpson e t a l . , 1976). services the  countries  and u t i l i z a t i o n  (Baird, Sadovnick,  Uddenberg,  1988).  revealed  that  diagnosis,  continue  to increase.  with  provided  chorionic  villus  m a t e r n a l age.  evidence that  utilization  scan.  diagnostic  a m n i o c e n t e s i s and  A c c e p t a b i l i t y and a t t i t u d e s o f  (McGovern, 1986; S j o g r e n  o f t h e most  diagnostic Its  basic  regarding delivering  service functions prenatal  important  a growing  r e l i a n c e and use o f  sampling.  components o f a p r e n a t a l  i s the p r o v i s i o n of genetic which  include  diagnosis  a l l relevant  manner, and p r o v i d i n g  informing  counselling.  the p a t i e n t  and h e r i n d i c a t i o n  information  support  studied  & U d d e n b e r g , 1989; S p e n c e r  due t o t h e a d v a n t a g e o f e a r l i e r One  would  (CVS), b o t h o f w h i c h a r e c a r e f u l l y  & C o x , 1987, 1 9 8 8 ) , and showed CVS  prenatal  one-out-of-  women t o w a r d s t h e p r o c e d u r e s a v a i l a b l e have been elsewhere  on t h e  The s t u d y  The most common p r e n a t a l  sampling  &  a t d e l i v e r y c h o s e t o have  t o women i n c l u d e  by u l t r a s o u n d  i n B.C. f o r  1976-1983, a p p r o x i m a t e l y  38 and o v e r  prenatal  techniques  et a l . reported  of amniocentesis  between  although  & M c G i l l i v r a y , 1985; S j o g r e n  by women o f a d v a n c e d  women aged  guided  diagnostic  v a r i e s between and w i t h i n  In 1985, B a i r d  utilization  diagnosis  three  prenatal  have become a v a i l a b l e t o women w o r l d w i d e ,  age l i m i t  overall  As a r e s u l t ,  (Hook, 1981;  for  it,  i n a non-directive  and autonomy a t a l l t i m e s a r e  3  dependent  upon the the  counsellor's  patients.  As  increasing  demand f o r p r e n a t a l  effectiveness that  the  of  field  genetic  service to  diagnosis  (Emery, 1984;  Frets  Mustonen, genetic  the  This not  counselling truly  given  informed  Cassileth,  t o an  test  and  what c o n s t i t u t e s  informed d e c i s i o n  1988;  1979;  Sjogren  Scotch,  1981), a l t h o u g h d i f f e r e n t  Chapter  Two  counselling  e x a m i n e s how offered  to  the  has  1986;  test. or  the to give  Bernhardt,  The been  1990;  Sjogren  a 1989;  Marteau, assessment  Lippman-Hand & Uddenberg,  measures have been  respect  the  of  reviewed  S o r e n s o n , Swazey, &  women e x p e r i e n c e  them w i t h  of  any  whether  upon  1990;  (Kessler,  & Heeren,  impact  to undergo  ability  1988).  & Marsk, 1989;  Wertz, Sorenson,  and  Somer,  & March, 1980;  Shaw, & S l a c k ,  Fraser,  her  (Annas & E l i a s ,  literature  verify  prenatal  r e v i e w s the  in part,  Johnston, P l e n i c a r ,  i n the  the  Berghe,  subsequent d e c i s i o n  Zupkis, Sutton-Smith,  extensively  1990;  decision  i s dependent,  consent  den  i s knowledge a b o u t  patient  to  adequately  requesting  One  of  an  diagnosis.  informed  test  to the  an  necessary  Kessler,  Chapter  knowledge and  t o have the  patients  for prenatal  diagnostic  acquired  are  with  grows w i t h  evaluations  i t s functions  1990;  1988).  A prerequisite or  diagnosis,  E v e r s - K i e b o o m s & van  & Niermeijer,  & Norio,  the  t o communicate  counselling  counselling  needs o f  counselling  screening  genetic  i s performing  according  1979;  of  ability  used.  genetic  t o knowledge  and  &  4 perception The should  of the information  d e c i s i o n t o have p r e n a t a l  make once a l l r e l e v a n t  Autonomy  i s very  prenatal  diagnosis,  point-of-view expanding  providing  the  t e s t i n g i s one t h a t women  information  i n genetic  from the p a t i e n t  in prenatal  (1990) r e p o r t  of f e t a l  With  diagnosis  on b e h a l f  to patients.  rapidlyand t r e a t m e n t ,  and e t h i c a l o f the i n d i v i d u a l s  The purpose o f  counselling, i n addition to delivering  to help  f a m i l i e s make t h e i r  counsellor  should  tailor  provided.  and t h e c o u n s e l l o r ' s  on t h e l e g a l  diagnosis  the information  has been  counselling for  & Marsk, 1989).  capabilities  implications  genetic  important  (Sjogren  Annas and E l i a s  is  presented.  own d e c i s i o n s .  information, Furthermore,  each c o u n s e l l i n g s e s s i o n  needs o f t h e i n d i v i d u a l p a t i e n t , as n o t a l l p a t i e n t s share  t h e same c o n c e r n s  diagnosis involved  (Bernhardt,  and u n d e r s t a n d i n g  1989).  Investigations  1989; M u r r a y  e t a l . , 1980; S j o g r e n  Sjogren  & U d d e n b e r g , 1988) have a i d e d  genetic  c o u n s e l l i n g by a l l o w i n g  decision-making discusses  the  process  decisions  maternal age.  literature,  regarding  with  prenatal  diagnosis & M a r s k , 1989;  understanding  by women.  the elements of decision-making genetics  prenatal  those p r o v i d i n g the  a better  encountered  will  of the f a c t o r s  i n a woman's d e c i s i o n t o have p r e n a t a l  (Bernhardt,  clinical  regarding  to the  Chapter  as p r e s e n t e d  o f the Three i n the  p a r t i c u l a r reference to  diagnosis  f o r advanced  5  Knowledge and most c e r t a i n l y Several  important  s t u d i e s have  a procedure genetic  understanding  counselling 1986).  emotional  responses of  dependent  that  Sjogren  Tunis  et  emotional  informed not  information  and  other  women e n c o u n t e r i n g  to genetic  factors 1989;  consent.  e l e c t i n g to discussed  regarding  an  prenatal  diagnosis  (Silvestre  examines t h e  diagnosis.  the  diagnosis &  is also  Fresco, 1987;  reaction  e s s e n t i a l r o l e i n the  prenatal  in  on  c o u n s e l l i n g , d e m o n s t r a t i n g how  response p l a y s  have  Wertz &  Thomassen-Brepols,  Chapter Four  are  research  d e c i s i o n t o have p r e n a t a l  & Uddenberg,  diagnosis  & U d d e n b e r g , 1990;  These s t u d i e s  a l . , 1990).  making p r o c e s s  for  whether or  t o the  upon p s y c h o s o c i a l  1980;  patients  the  due  (Sjogren  Sorenson,  indicate  criteria  reviewed  is solely  of p r e n a t a l  of  the decision-  6  Chapter Assessing  One  the E f f e c t i v e n e s s  Genetic Counselling Measuring difficult  task  counselling  the e f f e c t i v e n e s s  communication p r o c e s s o f both  a l w a y s t h e same. genetic  variation  among p a t i e n t s for  seeking  with  genetic  respect  reason,  to their  t o be t a k e n  such  a complex m e d i c a l s e r v i c e .  isa  are not  e i t h e r the Furthermore,  methods o f p r a c t i c e and situation  and r e a s o n s  are a d d i t i o n a l f a c t o r s  that  the e f f i c a c y of  Over t h e p a s t  decade,  on t h e e f f e c t i v e n e s s  of  there  genetic  ( E v e r s - K i e b o o m s & van den B e r g h e , 1979; G r i f f i n ,  Kavanagh, & S o r e n s o n ,  1976, 1977; K e s s l e r ,  1980; S h i l o h ,  & Goodman, 1990; S o r e n s o n e t a l . , 1981; Wertz &  Fletcher, used  through  i n t o a c c o u n t when m e a s u r i n g  have been numerous s t u d i e s  Avdor,  for defining  the e f f e c t i v e n e s s of  regarding  need  counselling  of the  and t h e p a t i e n t  point-of-view.  counselling  isa  t h e o b j e c t i v e s and  c a n be e v a l u a t e d  among c o u n s e l l o r s  goals  criteria  the c o u n s e l l o r  or the p a t i e n t ' s  counselling  Genetic c o u n s e l l i n g  i n which  For this  counselling  counsellor  of genetic  and t h e v a r i o u s  what makes i t " e f f e c t i v e . "  expectations  Process  because o f the m u l t i p l e  process  of the  1988) w h i c h d e m o n s t r a t e  by c o u n s e l l o r s ,  responses of p a t i e n t s The  basic  the d i f f e r e n t  and, subsequently,  approaches  the d i f f e r e n t  t o t h e s e methods.  purpose of genetic  counselling  i s to provide  (  7 a c c u r a t e and facilitate Early  appropriate  information  decision-making  investigations  concentrated  mostly  by  i n the on  the  Griffin  studies  et  revealed  patients,  level  a wide v a r i a b i l i t y  process.  design  i n these  c o n c l u s i v e l y due methods.  For  were used  example,  a l . , 1981).  effectively retention  and  of  Studies counselling (Kessler, previously provided  by  mentioned,  psychological  were  level  i t was  the  of  the retrospective not  identified  as they  had  session  of  study  knowledge more  for  differential  patients. the  success the  in  found  those  that  often  (Abramovsky, Godmilow, H i r s c h h o r n ,  In the  had  receiving  genetic  patients'  a l . , 1981).  counselling  e f f e c t s on  knowledge  after  reasons  more e m p h a s i s on  Sorenson et  in genetic  i n the  The  Hence, a l t e r n a t i v e methods o f  in establishing  1980;  Berghe,  et a l . , 1981).  in their counselling  t o e s t a b l i s h the  placed  den  n e c e s s a r i l y mean t h a t  t o measure the  information  medical-genetic  ineffective counselling  i f patients not  1983).  t h i s process  t h i s v a r i a t i o n was  to e f f e c t i v e or  in order  of  patient  immediately  studies,  their information  (Sorenson et  (Davies,  However, b e c a u s e o f  knowledgeable, t h i s d i d acquired  of  Sorenson  e v e n when measured  used  patient  it will  ( E v e r s - K i e b o o m s & van  a l . , 1977;  counselling  that  effectiveness  knowledge p o s t - c o u n s e l l i n g 1979;  the  so  the  perspective research  information  profound the  & Smith,  information 1980;  Emery,  8 1984;  Emery, e t  1979;  Keltikangas-Jarvinen  & Baitsch, reasons  1985).  By  for genetic  medical-genetic criteria With  a l . , 1979;  objectives Sorenson  al.  met  (1981) r e p o r t e d  their  be  the  the  socio-medical  concerns.  patient,  a more  counselling effective  session.  subsequently,  Additional studies  communication  regarding  the not  their  the  This  the  patients approach  counsellor  successful  on  genetic  the  elements  information  revealing  the  importance of  both  nonverbal  communication  for effective  genetic  counselling Kurtz  and  verbal  (Wertz & F l e t c h e r ,  Riccardi  communication interpreting was  was  emotions.  In  Kurtz  (1979) r e c o g n i z e d responsible  information  simultaneously  1988;  that  & R i c c a r d i , 1979). while  for t r a n s f e r r i n g  to p a t i e n t s ,  nonverbal  e s s e n t i a l for conveying  reviews published  by  of  have  a l s o been p u b l i s h e d , and  the  time  more l i k e l y  and  on  counselling.  more  between  in  of  focus  after  genetic  that  and  t o knowledge  to  and  f o r more open c o m m u n i c a t i o n and,  needs  Reif  established.  tended  allowed the  1980;  t o a s s e s s w h e t h e r or  spent with p a t i e n t s ,  were t o d i s c u s s  can  i n seeking  Berghe,  understanding  concerns before  i n order  were b e i n g  counsellors  communication  and  process  et  in addition  a better  den  Kessler,  patient's  i n paradigm, s t u d i e s  questions  counselling  1983;  the  counselling,  information,  shift  patient's  & Autio,  assessing  for effective  this  E v e r s - K i e b o o m s & van  verbal and communication  attitudes  Bernhardt  (1989)  and and  9 Sjogren  and  Marsk  counsellors before  the  (1989),  should  determine  counselling a level  at  Although  i t is possible general  nevertheless of  the  communicating  1986).  Finally,  (1987) s t r e s s e d cultural  beliefs  Counsellors  that  the  level  of  that  could  educate  patients  they could  some p a t i e n t s several  Lum the  (1987) and  may  still  sessions,  traditions  be  ethnic  an  longer  be  summary, the  simply  i n order  ways  Hall  for patients.  respect  to  empathetic role  of  when  the  genetic  to educate p a t i e n t s ,  t o a c k n o w l e d g e and patient  appreciation  nonjudgemental with  In  find  (Wertz e t a l . ,  when c o u n s e l l i n g  b a c k g r o u n d s , and  not i t is  Keena, Jawanda, and  importance of  and  knowledge  understand.  information  complex  information.  needs o f  patient's  this  providing  important  that  that  o b l i g a t i o n to t r y to  and  is  the  recommended  counsellor's  should  i s no  the  concepts a f t e r  religious  counsellor  also  b e g i n s so  patients  understand  i t was  appreciate  the  t o communicate  rather  it  psychosocial  the  information  effectively. In a  recent  survey of  nations,  nearly  approach  to genetic  This  requires  presentation  counselling  accurate by  the  Harris,  In t u r n ,  facts  patient  the  to concentrate  i n a manner w h i c h (Emery, 1984;  patients  are  18  non-directive  (Wertz & F l e t c h e r ,  counsellors  decision-making 1988).  medical g e n e t i c i s t s in  a l l participants preferred  genetic of  1,053  1988).  on  the  facilitates  Frets,  thereby helped  1990; and  supported  i n making d e c i s i o n s  referred  to t h i s  provided  i t i s made i n t h e  and  choice  a p p r e c i a t i o n of  instances, told  patients  what t o do  their  own  the  an  and  full  have l i t t l e  1984;  p a t i e n t more and  (1977) and genetic  Pitz  described  by  In g e n e r a l ,  defining  genetic  their  s i t u a t i o n by  costs  or  such  burdens of  approaches are  personal,  they  are  have d i f f i c u l t y  making d e c i s i o n s their  approach  groups  the  the  1981;  confuse decisions.  to c o u n s e l l i n g Pauker  are  and  Pauker directive  their  firstly,  evaluating  outcome a g a i n s t  more s c i e n t i f i c  being  relative  Although than  helpful for patients own  counsellors  for themselves,  may  models  assisted in  secondly,  best  t o be  c a p a b l e of  in assessing  approach.  The  w o r s t outcome f o r them.  thought  be  involve decision-aiding  patients  weighing  to  making  a p p r o a c h may  decision analysis.  p r o b l e m , and  Thus, t h e s e methods a l l o w  in  with  them t o make i r r a t i o n a l  research  technologies. their  expect  (1987) have e s t a b l i s h e d methods f o r  both  facts  Wertz & F l e t c h e r ,  i n these s i t u a t i o n s .  c o u n s e l l i n g using  (1984)  some  & Osztovics,  a non-directive  cause  In  experience  L u b s , 1979;  Thus, a more " c l i e n t - d i r e c t e d " objectives  a l l the  c u l t u r e s may  ( C z e i z e l , Metneki,  In t h e s e c a s e s ,  meet the  knowledge o f  p o s s i b l e consequences.  may  Falek,  Emery  individual's prerogative,  from d i f f e r e n t  decisions  Emery, 1984; 1988).  the  as  for themselves.  and  needs to help  still  be  who  independently. patients  in  non-directive  Effective through even  genetic  a v a r i e t y o f methods.  f u r t h e r by u s i n g  effectiveness instance, receive either  their  care  care  physician  Studies  reported  respect,  the physicians  patient,  demonstrating  procedure  used  was a l s o o b s e r v e d  referring  diagnosis  two means i n o r d e r t o  I n 1980, Lippman-Hand and for prenatal  prenatal  eligible  women.  among m e d i c a l g e n e t i c i s t s .  In t h i s f o r the  that  t h e a t t i t u d e had changed  t o the  This  trend  (1988) t h r o u g h t h e  trial they  o f C.V.S. should  women t o have p r e n a t a l  t o promoting  diagnosis  c o u n s e l l i n g methods c o n t r a r y  by Fahy and Lippman  eligible  obstetricians  review the  would be making d e c i s i o n s  the o b s t e t r i c i a n s f e l t  Although  genetic  that o b s t e t r i c i a n s ' lack of  c o l l a b o r a t i v e randomized  advise  which  a t t i t u d e concerning  them f r o m  from  (family physician or  on t h e u n d e r u s e o f a m n i o c e n t e s i s  was p r e v e n t i n g  Canadian  diagnosis  have been p u b l i s h e d  I t was s u g g e s t e d  For  s y s t e m , p a t i e n t s may  o r by a m e d i c a l g e n e t i c i s t a n d / o r  knowledge o r n e g a t i v e  and  sources of information.  the c o s t - e f f e c t i v e n e s s .  diagnosis.  c a n be t a k e n  same measures t o compare t h e  c o u n s e l l i n g o f f e r e d by t h e s e  determine  study,  assessment  counselling for prenatal  primary  counsellor.  usual  This  d e p e n d i n g on t h e h e a l t h  genetic  genetic  these  of various  obstetrician)  Cohen  c o u n s e l l i n g c a n be a c c o m p l i s h e d  be d i r e c t i v e  diagnosis.  from opposing  i t , the approach  In t h i s  prenatal  t a k e n by  i n counselling patients s t i l l  emphasized  influence Finally, and  and d i r e c t i o n i n s t e a d recent  Marsk  r e v i e w s by S h i l o h  (1989) r e p o r t e d  counselling  with  who r e c e i v e d  medical service  that  physicians  genetic  for  in genetic et  situation  i n genetic  these  because  than  a plausible  counselling  o r any o t h e r  s a t i s f a c t i o n with the disturbing to  However, S h i l o h  was l e s s s a t i s f y i n g t h a n there  a r e many f a c t o r s  et a l .  providers.  other  involved in  i s provided  t h a n how i t i s p r o v i d e d  (Shiloh  an a s s e s s m e n t o f t h e  counselling  and how t h e s e r v i c e  mean  who a r e r e f e r r e d  t o r e l a t e more t o what  T h u s , once a g a i n ,  r e c i p i e n t s and  t o them  r e s u l t s d i d not n e c e s s a r i l y  rather  of genetic  counsellors  non-genetic  Since  F o r example, p a t i e n t s  tend  counselling  effectiveness  its  that  purposes  a l . , 1990).  sources.  and c o u n s e l l o r s .  satisfaction.  genetic  received  given  t h i s r e s u l t was i n i t i a l l y  counselling  medical services patient  who  regarding  i s through p a t i e n t  provided,  (1990) e x p l a i n e d  the information  medical  measure o f e f f e c t i v e n e s s  genetic  patients  information  problems from v a r i o u s  services  that  e t a l . (1990) and S j o g r e n  by m e d i c a l g e n e t i c i s t s o r g e n e t i c  were l e s s s a t i s f i e d patients  o f autonomy and s u p p o r t .  depends on t h e p a t i e n t ' s  meets t h e o b j e c t i v e s  o f both  13 Chapter Knowledge and  Perception  Regarding Knowledge decisions offered in  the  be  what,  van  den  of  the  a l . , 1981).  capable of  For  provide  informed  an  on  either  Studies  to on  with  their whether  s e r v i c e s other patients  are  and  or  patient's  consent process  full  i n any  or  not  care this  than g e n e t i c  frequently  patients of  for  the able  this  to  lack  focusing  perspective. medical  service  the  factors  ( C a s s i l e t h e t a l . , 1980). goal  i s accomplished  counselling  unable  Sorenson  to p a r t i c i p a t e in  understanding of  proposed  Fraser,  subsequently  Many t h e o r i e s  the  &  a l . , 1988;  adequate u n d e r s t a n d i n g  a mechanism f o r p a t i e n t s  decision-making  counselling  from these o b s e r v a t i o n s ,  counsellor's the  between what  Keltikangas-  percentage of  varies.  knowledge have e v o l v e d  relevant  the  i s evidence  Lippman-Hand  Somer e t  post-counselling  of  is providing  1990;  being  (Evers-Kiebooms &  a l . , 1977;  1981;  example,  consent  of  et  Kessler,  & Antley,  in genetic  accomplished  Griffin  1983;  information  goal  tests currently  educationally  i s being  genetic  The  prenatal  informed  gap  demonstrating  the  f o r making  which demonstrates a l a r g e  1979;  Seidenfeld  Diagnosis  There  in fact,  & Autio,  Information  a d v a n c e d m a t e r n a l age.  accomplished  Berghe,  Jarvinen  et  any  t o women o f  and  1979;  about  of  Prenatal  is a prerequisite  literature  should  Two  to  recall  in  have r e v e a l e d specific  that  information  given  t o them even a f t e r  provide  complete  understanding Stewart,  information  (Epstein  1977).  extraordinary  This  efforts  and t o e n s u r e  & Lasagna,  delivered,  their  1969; S c h u l t z ,  a p p e a r s t o be t r u e  amount o f i n f o r m a t i o n  f o r poor  t h e manner  (Kessler,  geneticists  or family  well-trained be  level  that  skilled  the general  review published that  the  in their  public  by K e s s l e r  presented their  in their  prenatal The  ability  to educate,  attempt  i n making  field,  i t was  s e r v i c e s of l a t e  counselling  informed  often  t h e y may n o t  In a  at a recent  suggested have  and t h a t  to understand  any i n c r e a s e i n  will the  come o n l y  from  information  wishing  decisions  reached a  to assist  regarding  diagnosis. most common e x p l a n a t i o n  knowledge p o s t - c o u n s e l l i n g patients  medical  the information  t o them and f r o m c o u n s e l l o r s  patients  to patients  can u n d e r s t a n d .  (1990),  e f f e c t i v e n e s s of genetic  patients  i sthe  Although  in their  in transmitting  perhaps c o u n s e l l i n g  plateau  One  p h y s i c i a n s / o b s t e t r i c i a n s a r e most  and k n o w l e d g e a b l e  especially  i t is  involved.  the information  1990; S o r e n s o n e t a l . , 1 9 8 1 ) .  o f the  i n which  knowledge among p a t i e n t s  technique of those p r o v i d i n g  1975;  regardless  p r e s e n t e d , or the type of medical procedure explanation  a r e made t o  themselves.  when m e a s u r i n g  for patients'  has been a t t r i b u t e d  I t has p r e v i o u s l y  lack of t o the  been m e n t i o n e d  the e f f e c t i v e n e s s o f g e n e t i c  counselling  that  15 through p a t i e n t  retention of information,  should  i n t o account.  be t a k e n  possibility or  that  a l t e r n a t i v e l y , that  but  failed  reproduce  i t (Hsia  difficult  Berghe,  due  very  t h e y had been g i v e n  the  information  i t and s u b s e q u e n t l y  well  1989; al.,  r e t a i n or  & S i l v e r b e r g , 1973; M a r t e a u e t a l . , 1 9 8 8 ) .  of genetic  information  F o r example,  i t i s often  very  u n d e r s t a n d i n g and  ( E v e r s - K i e b o o m s & van den  i f the information  patients  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  o r due t o a f a i l u r e  produce  have u n d e r s t o o d  i t for cognitive  Griffin  during  the c o u n s e l l i n g  o f memory.  Finally,  the information, or emotional  e t a l . , 1977; M a r t e a u  patients  explanation  patients' An  lack  h a s been r e p o r t e d o f knowledge  appreciation  reasons  (Bernhardt,  e t a l . , 1988; S h i l o h e t  counselling  Doran,  1982; S h i l o h  recall  of information  correlation informed  between  as t h e most  likely  This cause  post-counselling.  of a patient's  e f f e c t i v e genetic  may  but f a i l e d to  1990; Somer e t a l . , 1988; S o r e n s o n e t a l . , 1 9 8 1 ) .  latter  in  information,  t o inadequate understanding  session  i s the  the  i n a s s e s s m e n t s s u c h as t h i s ,  1979).  reproduce  of a l l , there  t o d i s t i n g u i s h between p a t i e n t s '  remembering  considerations  were n e v e r g i v e n  t o understand  Furthermore,  for  patients  First  many  background  (Bernhardt,  e t a l . , 1990).  Studies  is essential  1989; D a v i e s & i n measuring  by d i f f e r e n t s t u d y g r o u p s o b s e r v e d a  the p a t i e n t s '  level  t h e y were a f t e r c o u n s e l l i n g  of education  (Davies,  and how  1983; Emery e t  al.,  1973;  I t was  Griffin,  often  1977;  observed  Kessler,  due  schooling  to having  or  simply  probabilities Another of  and  information accustomed  seen  could  their  can  be  is related  of  and  measurement. understood  the  the  1979).  et  counselling to r i s k . weighing their  form was  will  the  their  put  had,  great  the  not  the  often  been  time of the  lives who  in had  given  patients that  1990;  transform  not  study  same as  Kessler,  which  was  Lippman-Hand their  risk  meaning.  widely d i f f e r effort  situation.  O t h e r s may  all  t o the  information  given,  are  "at  will,  recall  the  patients  in fact,  not  except  therefore,  in  genetic  in their  attitude  into understanding  p r o b a b i l i t i e s t o make t h e  and  with  ease.  personal  that  i n which  life  risk"  i n which  i t i s c l e a r from s t u d i e s  that people w i l l  Some may  manner  them a t  i n t o a more p e r s o n a l  In c o n c l u s i o n ,  their  to d e a l i n g  estimates with  about  a l . , 1977;  Patients  during  example, most p e o p l e a r e  information  information  patients,  information  It is possible  However, the  (Griffin  estimates  For  remembered  were more  a t t r i b u t e d to v a r i a t i o n i n  t o making d e c i s i o n s  risks  Fraser,  the  t o the  i s provided.  recall  acquired  less-educated  a s s e s s new  terms of p r o b a b i l i t i e s . a poor  than  patients  b e c a u s e t h e y were u s e d  f a c t o r that  information  Wertz et a l . , 1986).  that well-educated  informed p o s t - c o u n s e l l i n g possibly  1990;  correct decision pay  any  f o r the  react  attention fact  to t h i s  that fact  and for at they  &  appropriately al.,  (1986),  counselling including that  a vast  only  is  risk  reactions  that  towards t h e g e n e t i c  education  either  received  that  discussions  were n o t a p p r o p r i a t e , concentrate their  i n genetic recall  f o r informed  counselling  situation.  In  with  c o u n s e l l i n g and  of f a c t u a l consent.  process,  and  more on women's  retention of information  t o informed  by E l k i n s e t  a review of the l i t e r a t u r e  perhaps p r e c i s e  on p a t i e n t  prerequisite  should  felt  and f e e l i n g s a b o u t  not always n e c e s s a r y  studies  o f women who  information  published  to patient  suggested  majority  counsellors  1990, K e s s l e r respect  In a study p u b l i s h e d  f o r Down's syndrome  genetic  personal  f o r them.  information  From t h e  and a t t i t u d e  i t appears  c o n s e n t may be knowledge  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.  that the  expressed  Chapter Factors  Involved  Three  i n the Decision-Making  Process Regarding P r e n a t a l There are a multitude parents' will of  decision-making  vary  depending  associated  of f a c t o r s a f f e c t i n g  i n prenatal  risks.  T h e r e has been much  t h e many v a r i a b l e s  counsellors  may  decisions  The the  regarding  prenatal  and t h e v a l u e s  & Pauker,  applied  so t h a t  genetic i n making  i s described  as  facts for a particular  1987).  ( A n t l e y , 1979;  This process  o f whether o r n o t t o have p r e n a t a l  Another  approach  decision-making  under  (1973) d e s c r i b e  desirability  secondly, occurring.  c a n be  to this risk. this  process Tversky  process  diagnosis.  i s b a s e d on a model o f and Kahneman  firstly,  o f t h e outcome t o t h e i n d i v i d u a l ( s ) , and  the perceived Although  counsellors  available  (1974) and  as e s t a b l i s h i n g ,  likelihood  of the d e s i r a b l e  result  i t i s u l t i m a t e l y t h e p a t i e n t who  d e c i s i o n o f w h e t h e r o r n o t t o have p r e n a t a l  genetic  on  diagnosis.  of the decision-maker  1987; P i t z ,  perception  t o any d e c i s i o n , b u t i s o f p a r t i c u l a r use t o t h e  decision  Pearn  and  research  i n making a d e c i s i o n  i n t e g r a t i o n of the r e l e v a n t  Pauker  the  involved  The d e c i s i o n  p a t i e n t s more e f f e c t i v e l y  basic process  decision  the  assist  prospective  diagnosis.  on t h e woman's b a c k g r o u n d  identifying  informed  Diagnosis  can a s s i s t  i n understanding  and t h e i m p l i c a t i o n s o f h a v i n g  makes  diagnosis, the options  a prenatal  test.  19 Therefore, decision optimal  knowledge o f t h e f a c t o r s t o have p r e n a t a l  genetic  The  most  contemplating risks,  important having  & Doran,  advantage  (Davies  that  by women  that  they  to relieve  providing  valuable  care  their  information  to terminate  common i s the  care  disorder  Chamberlain,  & Powledge, 1980). may c h o o s e Other  about  benefits  include  f o r optimal  an a f f e c t e d  preparations,  b a s e d on t h e i n f o r m a t i o n  prenatal  so t h a t the  can p r e p a r e  fetus  Women  t o have  the f e t u s  provider  an a f f e c t e d  fetus  e.g., e m o t i o n a l l y  Finally,  parents  who  t o t e r m have t h e o p t i o n provided  through  diagnosis.  There a l s o e x i s t diagnosis.  procedure  1973; M u r r a y ,  (Murray e t a l . , 1 9 8 0 ) .  choose not t o c a r r y  prenatal  studies  o r p a r e n t s who c h o o s e t o c a r r y  financially  a procedure  The most  i n various  anxiety.  t o t e r m c a n make a p p r o p r i a t e  prenatal  1990).  are at r i s k  mother and h e r p r i m a r y  and  with having  1982; F l e t c h e r ,  when  a r e the b e n e f i t s ,  t h e baby does n o t have a s p e c i f i c  diagnosis  birth  involved  Hopkins, Jackson, King,  who b e l i e v e  i n providing  women c o n s i d e r  diagnosis  1982; K e s s l e r ,  & Doran,  Fletcher,  is crucial  f a c t o r s that  prenatal  identified  reassurance  i n a woman's  counselling.  and l i m i t a t i o n s  (Davies  diagnosis  involved  several  A common c o n c e r n  testing (Davies  limitations expressed  i s the p o s s i b i l i t y & Doran,  t o having  by women  prenatal  regarding  of complications  1982; S j o g r e n  & Uddenberg,  from t h e 1989).  20  Even t h o u g h women want t o know i f t h e baby  i s abnormal,  are  to relieve  not w i l l i n g  anxiety  to risk  i n knowing  injuring  that  i t i s normal  limitation  of prenatal diagnosis  understood  by p a r e n t s  disorders (Davies,  i s that  i n question, 1983).  the f e t u s  (Davies,  1983).  testing  i s only  (Griffin  that  a healthy  be d e t e c t e d  to having  Although  perception  later  on i n  diagnosis  Lippman-Hand  1979,  Lippman-Hand  which.reviewed  of having  interviews  a  a g e , women's  markedly  among  1991; G r i f f i n  Verhage,  e t a l . , 1977;  1979; S i s s i n e e t a l . , 1981; Somer e t  e t a l . , 1981; W e r t z e t a l . , 1 9 8 6 ) . and F r a s e r  published  counselling.  with  with  (Davies,  a baby w i t h  an i m p o r t a n t  p a t i e n t s ' reception of information  t o them i n g e n e t i c  a child  a b n o r m a l baby  1983; F r e t s , D u i v e n v o o r d e n ,  & Fraser,  1988; S o r e n s o n  risk  increases with  & Niermeijer,  al.,  i s her p e r c e i v e d  i s known t o v a r y  (Davies,  Peters-Romeyn,  i n a woman's d e c i s i o n  a genetically  the numerical  of risk  individuals  having  by p r e n a t a l  t o have p r e n a t a l d i a g n o s i s  chromosomal a b n o r m a l i t y  their  baby  c o n g e n i t a l anomalies can occur i n  t h e most b a s i c e l e m e n t  susceptibility 1983).  t o the  e t a l . , 1977; Simpson e t a l . , 1 9 7 6 ) .  Perhaps whether  cannot  Another  specific  newborns a s w e l l as p r o b l e m s w h i c h may d e v e l o p childhood  their  t h a t needs t o be w e l l -  and c a n n o t g u a r a n t e e  Many o t h e r  some  patients  a genetic  I t was o b s e r v e d that  defect  although i s given  In  study  presented through  the r i s k of by t h e  counsellor value will  for not  i n terms o f the  be  patient  normal.  a c t u a l outcome o f concerned  about,  numerical  risk  Lippman-Hand 1986). t o be  the and  i s often  influenced  studies  by  suggest  or  may  patients  perceived  Nonetheless, involved, as  the  to experience  by  risks  traits  beliefs  risk  she  counsellor  Frets  (1986) a l s o  found  most p a t i e n t s  numerically  smaller  that  risks,  underestimate numerically patient's  final  past  decision  and  session  For with  learned  greater as  a  most  lower  In  prenatal  was the  the  actual  tendency  difficult Pearn,  1973;  Wertz e t a l . to  alternatively,  regarding  the  believed  tended  risks.  disorder  expected.  a l . , 1984).  larger  1977;  experiences  a problem or  e t a l . , 1991;  Wertz e t  al.,  counselling  the  a l . , 1981;  their  come t o  decision-making process  a l . , 1980;  than  a l . , 1986).  t o have  and  most  Wertz e t  a client  was  the  have a l s o been shown  t h a n what t h e y had the  or  Wertz et a l . ,  and  about  counselling  likely  the  the  (Abramovsky e t et  the  are  et  change p o s t - c o u n s e l l i n g .  higher  less  concerning  Griffin  1973;  that patients  estimate  the  given  Sorenson  not leave  risk  Pearn,  a l . , 1981;  c e r t a i n a t t i t u d e s or  w h i c h may  1979;  this  either w i l l  weighed more h e a v i l y  genetic  et  child  i s what p a r e n t s  personality  Sorenson  outcome o f  uncertainty  (Antley, 1979;  the  the  pregnancy  I n t e r p r e t a t i o n of  Several  risk  T h u s , the  & Fraser,  1973;  part,  i s binary:  estimate  (Pearn,  with  a percentage,  overestimate to  any  event,  diagnosis  the is  22 usually  based  expectations  on h e r own p e r s o n a l r i s k about  the n u m e r i c a l Other of  risk  risk  Pearn's  f a c t o r s which  r a t h e r t h a n on  c o n t r i b u t e t o a woman's p e r c e p t i o n t o have p r e n a t a l t e s t i n g  i n v o l v e the  or t h e burden o f the d i s o r d e r i n q u e s t i o n . (1973) e a r l y  interpretations found  factor  of the c h i l d  alone.  and t h e d e c i s i o n  severity  was  the normalcy  i n t e r p r e t a t i o n and  that  of r i s k s  offered  the nature  influencing  decision-making personal  s t u d i e s on p a t i e n t s '  subjective  i n genetic counselling, i t  o f t h e outcome was t h e most  t h e p a t i e n t ' s p e r c e p t i o n o f odds.  p r o c e s s was b e l i e v e d  view or u n d e r s t a n d i n g  subjective  In  interpretation  to involve:  o f t h e d i s o r d e r , and (b) a  o f the a s s o c i a t e d r i s k  given for  I n a r e c e n t s t u d y o f Drugan e t a l .  it  the severity  that  one  o f t h e major d e t e r m i n a n t s  sex  chromosome a n o m a l i e s  autosomal  play  patients  children  the i m p l i c a t i o n s  themselves.  perceived  with  Some may f e e l  child,  t o be l e s s  severe  The i n f l u e n c e a particular  i n the decision-making  have s e e n  understand  affected  i n parental decision-making;  chromosome a n o m a l i e s .  a role  with  process.  d i s o r d e r may  such  also  Frequently,  t h e d i s o r d e r i n q u e s t i o n and  of having that  than  of past  they  such  a child  c o u l d cope w e l l w i t h an  w h i l e o t h e r s may be more c o n c e r n e d  burdens o f having  (1990),  o f t h e chromosomal anomaly was  were f e l t  experience or f a m i l i a r i t y  The  (a) a  the d i s o r d e r ( s ) . was f o u n d  obvious  a child.  about t h e  E x a m p l e s o f such  23 burdens the  i n c l u d e the e f f e c t  woman's p r o f e s s i o n a l l i f e ,  financial In  on t h e i r  commitments  (Davies  t h e demands  depend on t h e i r  and f a m i l y  of r i s k  estimates  p e r c e p t i o n o f what  life,  from s o c i e t y , or  & D o r a n , 1982; P e a r n ,  summary, p a t i e n t s ' p e r c e p t i o n  highly  personal  they  1973). will  are taking a  risk f o r . Patient  a t t i t u d e s towards t h e i r  a significant testing. healthy  children,  1990; Lum,  their  own  disease  after  that  may  so d e s p e r a t e l y  having  they  parents  their  quality  lost  will  circumstances  through 1983).  risks  planned  or not  motivation factor  with  which  the  sacrifice  quantity  p a t i e n t s may  depending  (Davies, respect  For  c h i l d of  1983).  In  these  upon whether Therefore,  explore  to achieve (Roghmann  perceive  t o her pregnancy  c o u n s e l l o r s should  reassurance  f o r the h e a l t h or q u a l i t y  t h e use o f p r e n a t a l d i a g n o s i s  differently  1987).  want a l i v i n g  to t r y with  concerned  Finally,  (Frets &  e t a l . , 1980; P e a r n ,  i s a v a i l a b l e t o them.  and may  which i s  s e v e r a l c h i l d r e n from a g e n e t i c  continue  a r e more  children,  Doherty, and  and c u l t u r a l 1987; M u r r a y  prenatal diagnosis  cases, of  and, i n p a r t i c u l a r ,  S i s s i n e e t a l . , 1981; T h o m a s s e n - B r e p o l s ,  example, p a r e n t s  also play  prenatal  i s a b a s i c human c h a r a c t e r i s t i c  upon p e r s o n a l  Niermeijer,  that  i n the d e c i s i o n r e g a r d i n g  The d e s i r e f o r c h i l d r e n ,  dependent  1973;  role  p r e g n a n c y may  &  the b e n e f i t s  a pregnancy  was  a patient's  i s an a d d i t i o n a l in helping patients  24 t o make d e c i s i o n s  regarding  In c o n c l u s i o n , identified decision in  prenatal  the f a c t o r s discussed  as t h e most r e l e v a n t  regarding  prenatal  as p a r e n t a l  diagnosis,  economic  age, e t h n i c  o r more  testing.  and e d u c a t i o n a l  t o i n f l u e n c e a woman's d e c i s i o n  V e r p , Bombard, S i m p s o n , Prenatal  involving  & Elias,  diagnosis  two d e c i s i o n s ;  have a p r e n a t a l  background, o r as  having  ( D a v i e s , 1983;  1988; Wertz  & Sorenson,  i s sometimes l o o k e d  the f i r s t  specifically,  upon as  one i s whether o r n o t t o  d i a g n o s t i c procedure,  and t h e s e c o n d  what t o do i n t h e e v e n t o f an a b n o r m a l r e s u l t . the  National  offering Sjogren  Research C o u n c i l  prenatal  genetic  & Uddenberg,  diagnosis  may be an i n f o r m e d  if  The o n l y  and n o t a commitment  r e s u l t s show  abnormality.  one i s  According  to  centers  ( F l e t c h e r , 1973;  1988; Somer e t a l . , 1 9 8 8 ) ,  are separate.  testing,  (1975) and v a r i o u s  counselling  decisions  been  Additional factors  s t a t u s have a l s o been d e m o n s t r a t e d  potential  1986).  t h u s f a r have  components o f a woman's  t h e d e c i s i o n t o have p r e n a t a l  such  diagnosis.  t h e s e two  prerequisite to prenatal  decision regarding regarding  prenatal  a particular action  25 Chapter  Four  E m o t i o n a l Responses t o P r e n a t a l When p r e n a t a l  diagnosis  rapidly  expanding  efforts  were made t o a s s e s s  and  second  from  procedure majority rather  the emotional  uncertainty prenatal because  and f e a r  comprise  Robinson, Tennes,  implications  injury  having that  a  i n the  i s a normal, (Blumberg,  new e m o t i o n s and  Women  & Robinson,  with  having  group o f pregnant  a p r o c e d u r e due t o an a genetic  women  increased  anomaly  1984; E v e r s - K i e b o o m s , 1988;  1975; S j o g r e n  Through s t u d i e s diagnosis,  psychological counselling during process  with  or defect.  a special  to a child  of prenatal  procedures  than not induces p e r i o d s of  1979; B l u m b e r g ,  1990).  on t h e  t o pregnancy  women w i t h  of f e t a l  are undergoing  & Golbus,  Tunis,  involved  of f i r s t  the n e c e s s i t y f o r  emotional disturbance  and more o f t e n  forgiving birth  (Beeson  f o r these  a p a t h o l o g i c a l , response  diagnosis they  Studies  demonstrated  issues  Pregnancy c o n f r o n t s  adjustments,  and s a f e t y  I t h a s been a c k n o w l e d g e d  of instances,  than  1984).  1990;  counselling  as a  o b s t e t r i c care,  d i a g n o s t i c methods.  of genetic  as w e l l .  recognized  the e f f i c a c y  the p a t i e n t ' s p e r s p e c t i v e  addressing  risk  component o f r o u t i n e  trimester  effectiveness  was f i r s t  Diagnosis  & Uddenberg,  on t h e e m o t i o n a l the n e c e s s i t y of  the p r e n a t a l  diagnostic  i s apparent.  Genetic  counselling deals  with  p r o b l e m s w h i c h a r e more  26 stressful  t h a n many m e d i c a l  information genetic  which  i s transmitted  very  individuals genetic  on r i s k  complex and d i f f i c u l t  i n less  stressful  1984).  factors  The  regarding  to understand  situations.  i s often even f o r  Therefore,  unless  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 t o t h e e m o t i o n a l  impact p r e n a t a l d i a g n o s i s  et  (Schild,  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 p r o c e d u r e s  considered  that  problems  places  l e a r n i n g and u n d e r s t a n d i n g  on p a t i e n t s , i t i s l i k e l y will  be compromised  (Shiloh  a l . , 1990) . Studies  comparing  general  patterns  p r e g n a n t women r e v e a l a c h a r a c t e r i s t i c reflecting  increases  trimesters  and a d e c r e a s e o c c u r r i n g  (Lubin, Gardener, these  i n anxiety  & Roth,  o f mood s t a t e s i n U-shaped  i n t h e f i r s t and t h i r d i n the second  1975; T u n i s  patterns levels  trimester  e t a l . , 1990).  a s s e s s m e n t s were made on women u n d e r g o i n g  diagnosis,  pattern  prenatal  t h e e x t r e m e s and s h a p e s o f t h e r e l a t i v e  changed  significantly,  of anxiety  have r e p o r t e d  (Tunis  a d d i t i o n a l sources  actual diagnostic procedure. itself  mood  revealing different  e t a l . , 1990).  Several  of anxiety  When  state  t i m e s and  researchers  regarding the  F o r example, t h e e x p e c t a t i o n o f  the  test  h a s been shown t o c a u s e much d i s t r e s s due t o  the  f e a r o f p r o m o t i n g damage o r m i s c a r r i a g e  due  t o the f e a r o f the p a i n o f the procedure  Golbus,  1979; S i l v e s t r e  waiting  f o r the t e s t  & Fresco,  result  1980).  of the f e t u s , or (Beeson &  Subsequently,  i s a l s o a major c o n t r i b u t o r o f  27 increased  anxiety  regardless Blumberg, 1980; et  o f t h e method  & Uddenberg,  a l . , 1990).  diagnosis  that  the attachment  to the c h i l d This  wide s p e c t r u m o f e m o t i o n a l recognized  Many r e s e a r c h experienced  genetic  Sjogren  & Marsk, 1989; S j o g r e n  only  involve  a personal  In a r e v i e w  women's e x p e r i e n c e s found they  f o r advanced m a t e r n a l  than  those  or family h i s t o r y by S j o g r e n  with  & van den B e r g h e , 1988;  c o n s e n s u s among a l l r e v i e w s  anxious  published  and Marsk  prenatal genetic  i n c o u n s e l l i n g than  i s that age  whose i n d i c a t i o n s  of a genetic  t h a t AMA women were more c o n t e n t received  (Beeson &  & U d d e n b e r g , 1990; T u n i s e t  prenatal diagnosis  are less  (Sjogren &  the anxiety  prenatal diagnosis  1979; E v e r s - K i e b o o m s , S w e r t s ,  (AMA)  the previous  counselling  Golbus,  women h a v i n g  the test  i s associated with a  g r o u p s have compared  The g e n e r a l  indicated  e t a l . , 1981).  by women h a v i n g  1990).  after  found  r e s p o n s e s by women w h i c h need t o  f o reffective  U d d e n b e r g , 1990; S o r e n s o n  i t was  amniocentesis  confirms  that prenatal diagnosis  on r e a c t i o n s t o  1980),  began o n l y  statement  & Fresco,  & C o x , 1987; T u n i s , study  & Fresco,  o f women u n d e r g o i n g  were known.  observations  al.,  & G o l b u s , 1979;  1990; S p e n c e r  (Silvestre  the majority  be  (Beeson  From an i n t e r v i e w - b a s e d  that  results  used  prenatal diagnosis,  1984; R o b i n s o n e t a l . , 1988; S i l v e s t r e  Sjogren  prenatal  f o r a l l women h a v i n g  disorder.  ( 1 9 8 9 ) , b a s e d on c o u n s e l l i n g , i t was  with  the information  p a t i e n t s who r e c e i v e d  28 counselling  due t o a g e n e t i c  women who a r e c o u n s e l l e d may  require  has  a l s o been s u g g e s t e d  stress  for  Therefore,  genetic  been  reason Sjogren  that  diagnosis.  can  genetic  risks  (Pearn, diagnosis  i n comparison Finally, should  t o women  although i t n o t be a  (1990) s u g g e s t  that  a patient's  r e s p o n s e and i n t e r p r e t a t i o n o f h e r r i s k i n risk  factors fore l i g i b i l i t y I n summary, t h r o u g h  emotional experiences counsellors  feelings  t o take  itself  disorder  ( M i c h e l a c c i e t a l . , 1984),  t o the a c t u a l s t a t i s t i c a l  deciding  genetic  anxiety  diagnosis  and U d d e n b e r g  addition  tendency  that  of personal  fewer women may have p r e n a t a l  recommended  psychological  the  their  levels  by p a t i e n t s w i t h  f o r age r e a s o n s o n l y .  f o rprenatal  suggested  Furthermore, i t  the elevated  reasons p o s t - c o u n s e l l i n g  who a r e e l i g i b l e has  that  counselling.  experienced  p r o b l e m s may r e d u c e  This  b e c a u s e o f a known g e n e t i c  more s p e c i a l i z e d  and a n x i e t y  1973).  problem.  before  help  any d e c i s i o n s  regarding  should  be  prenatal  an a w a r e n e s s o f t h e v a r i o u s  o f women h a v i n g should  estimate  prenatal  patients  regarding  diagnosis,  cope w i t h prenatal  these  diagnosis  be made. With  trimester carried  the r e l a t i v e l y method  recent  for prenatal  availability  diagnosis,  of a  studies  first  have  been  o u t t o d e t e r m i n e w h i c h method, a m n i o c e n t e s i s o r  chorionic  villus  sampling  (CVS), was c o n s i d e r e d  desirable  a l t e r n a t i v e f o r women  t h e more  (Robinson e t a l . ,  1988;  Sjogren  & M a r s k , 1989; S j o g r e n & U d d e n b e r g , 1988,  Spencer  & C o x , 1987, 1988; T u n i s e t a l . , 1990).  a m n i o c e n t e s i s h a s been t h e method o f p r a c t i c e the advent  o f CVS o f f e r s  amniocentesis time  cannot.  several  First  (9-12 weeks g e s t a t i o n a l  rather  than  the second  weeks g e s t a t i o n a l  advantages  of a l l ,  Although  f o r many y e a r s ,  that  the e a r l i e r  age) i n t h e f i r s t  trimester  sampling  trimester,  f o ramniocentesis  a g e ) , makes i t p o s s i b l e  1989;  (15-17  to detect  fetal  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.  This  considered  the e n t i r e  period  place  appealing since  before f e t a l  attachment  movement and s i g n i f i c a n t  t o t h e baby  distress for  maternal  & Cox, 1987, 1 9 8 8 ) .  t o t e r m i n a t e an a b n o r m a l  caused  takes  ( R o b i n s o n e t a l . , 1988; S j o g r e n &  U d d e n b e r g , 1989; S p e n c e r who c h o o s e  testing  factor i s  pregnancy,  by t h e l o s s o f t h e c h i l d  F o r t h o s e women the emotional  and t h e p r o c e d u r e  t e r m i n a t i o n may n o t be as g r e a t as f o r t h o s e women who  terminate a f t e r  amniocentesis  ( R o b i n s o n e t a l . , 1988; S p e n c e r  & Cox, 1987).  Secondly,  CVS i s u s u a l l y  one week, i n c o m p a r i s o n  amniocentesis centers). anxiety  f o rresults  after  t o t h r e e weeks  after  (actual waiting periods w i l l  This  factor  s u g g e s t s an e a r l i e r  f o r CVS p a t i e n t s  U d d e n b e r g , 1989; S p e n c e r Despite  the w a i t i n g time  v a r y among reduction i n  ( R o b i n s o n e t a l . , 1988; S j o g r e n & & Cox, 1 9 8 7 ) .  t h e o b v i o u s b e n e f i t s o f CVS, t h e r e a l s o  several disadvantages to this  procedure.  Due t o t h e  exist  30 relatively  r e c e n t development o f t h i s  CVS  due t o t e c h n i c a l  and  possible  miscarriage after  greater  (1-2%) t h a n  (<0.5%)  (Robinson,  since  then,  difficulty  in carrying  risk  1988; S p e n c e r  the  total  loss  the Canadian  Clinical  Trial  failure  and f e t a l  that  diagnosis procedures 1981).  The e m o t i o n a l  has caused (Blumberg,  However,  1987).  emotional  f o r CVS,  different.  t o compare t h e e m o t i o n a l prenatal diagnostic do compare  a spectrum  trauma  some c o n c e r n  t h e two  o f emotions  inherent i n prenatal  about  t h e use o f t h e s e  the a l t e r n a t i v e  trauma  t o t h e knowledge  i s a s s o c i a t e d with  (Blumberg,  that  even more  1984; S j o g r e n  In r e s e a r c h r e g a r d i n g p a r t i c i p a n t s '  & Uddenberg,  reactions 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 , t h e m a j o r i t y o f women recognize  inits  1984; C l a r k & D e V o r e , 1989; K a r p ,  prenatal diagnosis provides severe  l o s s may e x i s t  higher  one o b s e r v a t i o n i n common, w h i c h i s  p r e n a t a l d i a g n o s i s induces  participants.  a slightly  r a t e s were n o t s i g n i f i c a n t l y  at least  Collaborative  comparing  although  Nevertheless, studies that  methods s h a r e  However,  (Canadian  trials  o f t h e two most commonly used  procedures.  originally  Group, 1989) and A m e r i c a n  In c o n c l u s i o n , i t i s d i f f i c u l t impacts  were  & Cox, 1 9 8 7 ) .  and CVS showed t h a t  of procedure  out the procedure  the procedure  (Rhoads e t a l . , 1989) r a n d o m i z e d amniocentesis  the r i s k s of  what was r e p o r t e d f o r a m n i o c e n t e s i s  r e p o r t s from  CVS-Amniocentesis  technique,  i t as a p o s i t i v e  and w o r t h w h i l e  experience  (Blumberg, 1984; Evers-Kiebooms et a l . , 1988; F i n l e y , Vinson, & F i n l e y ,  1977; Sjogren & Uddenberg,  Tunis et a l . , 1990) .  1988,  Varner,  1989;  32 Conclus ion There  a r e many  when c o u n s e l l i n g prenatal  patients  diagnosis.  prospective retention  issues  must  be t a k e n  with d i f f e r e n t  s t u d y methods,  a better  account  that  through  assessment o f p a t i e n t  and t h e e m o t i o n a l  impact  of  genetic  The p r e s e n t  research  the genetic  counselling  o f f e r e d by  m e d i c a l g e n e t i c i s t s and g e n e t i c  counsellors  i n the Department  designed  would be p o s s i b l e .  into  indications for  I t h a s been s u g g e s t e d  of information  counselling  that  t o examine  of M e d i c a l community.  Genetics  and by p r i m a r y  care  providers  was  w i t h i n the  Part  B  The P r e s e n t  Study  In t h e p r o v i n c e o f B r i t i s h is  available  expected for  fetal  of confinement  receive  The c o u n s e l l i n g  discussion of  procedure  appropriate counselling  making.  of their  specific  villus  explanation  sampling)  are expected  f i r s t to  age-related risks, procedures  t o permit  informed  i s t o impart  such  those p a t i e n t s with  counselling  obstetrician  clinic.  and an  The  enough i n f o r m a t i o n d e c i s i o n and  1989, a l l women e l i g i b l e  and m e d i c a l g e n e t i c i s t s  then,  counsellors  risks,  consent.  M e d i c a l G e n e t i c s , The U n i v e r s i t y  associated  a description  respective  them t o make an i n f o r m e d  t o November,  counsellors  a  ( a m n i o c e n t e s i s and  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  Since  decision-  o f t h e meaning o f a b n o r m a l r e s u l t s .  to p a t i e n t s  Prior  e l i g i b l e to  the f o l l o w i n g :  and t h e i r  o b j e c t i v e o f the c o u n s e l l i n g  give  A l l patients  to aid in their  involves  t h e two most commonly u s e d  chorionic  a t the  (EDC) b e c a u s e o f i n c r e a s e d r i s k s  chromosome a b n o r m a l i t i e s .  have a p r e n a t a l d i a g n o s t i c  prenatal diagnosis  women age 35 and o v e r  t o a l l pregnant  date  Columbia,  their  of B r i t i s h  h a v i n g no r i s k s  advanced m a t e r n a l from  through  i n t h e community,  t h e Department o f Columbia  (UBC).  o t h e r than  those  t h a n by g e n e t i c  at the Medical Genetics  On t h e day o f t h e p r o c e d u r e , in counselling  received  care physician or  rather  and m e d i c a l g e n e t i c i s t s  information presented  genetic  age (AMA) have  primary  for prenatal  a review o f the i s done by a n u r s e  34  appointed is  t o t h e AMA p r o g r a m t o e n s u r e t h a t  continued  w i t h AMA and a d d i t i o n a l g e n e t i c  t o be s e e n by g e n e t i c  counsellors  geneticists.  Individualized counselling  patients  respect  with  counselling This  given  to their  physicians  i s provided  i n t h e AMA  counselling  t o that  have  and m e d i c a l t o such to the  program.  an u n i q u e o p p o r t u n i t y  of the genetic  i n addition  concerns  situation i n addition  to a l l patients  system p r o v i d e d  effectiveness  t o study the  done by p r i m a r y  done by g e n e t i c  care  counsellors  medical g e n e t i c i s t s . The  women. an  consent  provided. Patients  and  informed  subjects The f i r s t  i n this  study  group c o n s i s t e d  i n d i c a t i o n for prenatal  counselled The genetic risks  by t h e i r  second  above t h e i r  manage t h e i r  primary  groups o f  (AO). T h e s e women were  physician  i n t h e community.  o f women w i t h AMA p l u s  (AP) w h i c h d i d n o t impose a d d i t i o n a l risk  pregnancy  Examples o f c o n c e r n s history  care  three  o f women w i t h AMA o n l y as  diagnosis  group c o n s i s t e d  concerns  comprised  associated  any d i f f e r e n t l y  i n t h e AP g r o u p  o f spontaneous pregnancy  chromosomes, a f a m i l y  w i t h AMA o r g i v e than  losses with  e x p o s u r e t o an e n v i r o n m e n t a l a g e n t  that,  The women i n AP were c o u n s e l l e d  counsellors  a t the Medical  Genetics  clinic  reason t o  an o b s t e t r i c normal  parental  or concern  i n fact,  teratogen.  genetic  t h e women i n AO.  include  h i s t o r y of a l l e r g i e s ,  other  about  i s not a  by g e n e t i c to discuss  their  35  concerns  i n addition  The  third  indications additional  t o AMA  counselling.  group c o n s i s t e d  for prenatal fetal  risks  o f women w i t h AMA and complex  diagnosis  and may have r e q u i r e d  testing  and f o l l o w - u p .  include  a history of a previous  abnormality counselled the  Medical  addition  Genetics  tube d e f e c t .  counsellors clinic  purpose of t h i s  genetic  counsellors,  physicians.  a chromosome  The women i n AC were  and m e d i c a l g e n e t i c i s t s a t their  risks i n  emotional  normally  to their  writer's  geneticists,  through g e n e t i c  counselling  the p a t i e n t s '  r e c a l l of  i n AMA c o u n s e l l i n g  involvement with presented  care  and t h e i r  prenatal  in this  survey,  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  provided  counsellors,  and p r i m a r y  with  patients'  m e d i c a l g e n e t i c i s t s , and p r i m a r y  From t h e o b s e r v a t i o n s  counselling  associated  gained  presented  responses  diagnosis. i s this  i s t o examine  The s t u d y d e s c r i b e s  information  genetic  with  to discuss  thesis  knowledge and s a t i s f a c t i o n  it  child  i n t h e AC g r o u p  t o age.  The  by  additional  Examples o f c o n c e r n s  or a neural by g e n e t i c  (AC) which d i d impose  AMA.  care  by g e n e t i c physicians  regarding  medical  risks  36  Chapter  Five  Method Subjects T h e r e were two c r i t e r i a Firstly, the  f o r s e l e c t i o n of  t h e y had t o be p r e g n a n t women aged  expected  prenatal  date of confinement  diagnosis.  Secondly,  consent  and t o c o m p l e t e subject  language o f p r e f e r e n c e whether o r n o t t h e r e multilingual  prenatal with  diagnosis  a significant  of f i v e  the p r e n a t a l  other  eight  informed  the to e s t a b l i s h  t o arrange f o r service.  to p a r t i c i p a t e i n t h i s  during  due t o o t h e r  need  sufficient  months, a l l p a t i e n t s e l i g i b l e f o r  were a s k e d  and F r i d a y s  study p e r i o d  study  p a t i e n t s were s e e n o n l y the l a t t e r  research  on  two months o f t h e  i n v o l v i n g t h e CVS  patients  a c a d e m i c commitments, and p a t i e n t s were n o t s e e n on  n o n - c o n s e c u t i v e d a y s due t o t h i s w r i t e r ' s a b s e n c e f o r  various this  was  nonetheless recorded  the f o l l o w i n g e x c e p t i o n s :  Wednesdays  and  was  eligible for  In t h e e v e n t o f  was n o t E n g l i s h - s p e a k i n g ,  counselling within  Over a p e r i o d  to provide  the q u e s t i o n n a i r e s .  who  and o v e r a t  t h e y had t o have  i n v e r b a l and w r i t t e n E n g l i s h  eligible  35  and, t h e r e f o r e ,  fluency  an  subjects.  reasons.  study  Therefore,  p a t i e n t s who  were r e p r e s e n t a t i v e  participated in  of the p o p u l a t i o n  from  which  t h e y were drawn. Forty-seven  o f 884 p a t i e n t s  (6%) were e x c l u d e d  due t o a  37 language  barrier.  O r i e n t a l descent  The and  Cantonese-speaking them w i t h (1%)  access  (8%)  to s e v e r a l Chinese  they  due  were t o o b u s y . given consent  p a t i e n t s (7%)  who  had  the  due  first  p a t i e n t s (5%)  T h i r t e e n of  not  questionnaire. agreed  884  to p a r t i c i p a t e  and  time  Finally,  to p a r t i c i p a t e  q u e s t i o n n a i r e , but were s u b s e q u e n t l y  study  for several  or six or  a missed  they chose  not  E v e n though  38 p a t i e n t s was  not  their  were r e v i e w e d  responses  differed Of (45%)  from  and  the  completed  excluded  the  met  initial  inclusion  questionnaires. 52 of (60%) .  102  the  demise,  more  than  the second q u e s t i o n n a i r e , procedure  the d a t a c o l l e c t e d  to determine  data  whether  from  these  analysis, they  patients.  884  eligible  criteria  There  from  abortion, fetal  i n c l u d e d i n the complete  the o t h e r  to of  t o have a p r e n a t a l d i a g n o s t i c  post-counselling.  of  t h e r e were 38  ultrasound abnormality detected at procedure, weeks e l a p s e d b e f o r e c o m p l e t i n g  63  ultimately did  available  first  reasons:  884 p a t i e n t s  Seventy-two of  given consent  to i n s u f f i c i e n t  who  to provide  t o i n c r e a s e d a n x i e t y or  had  not p a r t i c i p a t e  or  p h y s i c i a n s w i t h i n the community  who  complete  t h e s e p a t i e n t s were o f  appropriate counselling.  because  patients  884  had  refused to p a r t i c i p a t e  simply  884  m a j o r i t y of  and  were 311  p a t i e n t s i n AP  patients for this successfully of  ( 5 3 % ) , and  722  study,  completed  p a t i e n t s i n AO  36 of  60  399  both (43%),  p a t i e n t s i n AC  38 Procedure Patients first had  were a s k e d  questionnaire  a prenatal  questionnaire prenatal  (Ql) was  diagnostic (Q2) was  diagnostic  provision  From November, counselled rather  by t h e i r  clinic.  Only  t o and s e e n of  their  other  PAU),  could of  prior  by g e n e t i c Genetics  i t was p o s s i b l e  complete  Ql prior  be a r r a n g e d  their  The the  the p a t i e n t s  regarding  only  varied  patients  physician  counsellors  and  prenatal  among  groups.  (AO) were  a t the M e d i c a l  Genetics  were s u c h p a t i e n t s  i t was  counsellors  referred  (PAU) on t h e day  not p o s s i b l e  to receiving genetic the p a t i e n t s  had a  i n t h e community  Assessment U n i t  Therefore,  clinic  AMA  i n AP  t o access  counselling.  On  and AC were  and m e d i c a l g e n e t i c i s t s a t  ( s i t u a t e d on t h e same s i t e  as t h e  f o r t h e women i n t h e s e g r o u p s t o counselling  f o r them t o do so a t t h e c l i n i c  as a t i m e on t h e day  A summary o f t h e t i m e s a t w h i c h  i n each g r o u p  time e l a p s e d  procedure,  the p a t i e n t s  t o t h e change i n t h e  to receiving genetic  appointment.  Q2 were c o m p l e t e d  Due  counselling  hand, s i n c e  Medical  after  primary care  procedure.  counselled the  1989, AMA  a t the P r e n a t a l  these p a t i e n t s the  after  completed  of Ql completion  t h a n by g e n e t i c  before  The  p r o c e d u r e , and t h e s e c o n d  counselling  the timing  two q u e s t i o n n a i r e s .  completed  procedure.  of genetic  diagnosis,  t o complete  i s included  between g e n e t i c  and t h e c o m p l e t i o n  i n Table  counselling,  o f Q2 was  Q l and  1.  t h e day o f  recorded  for a l l  TABLE 1: QUESTIONNAIRES #1 & #2: TIMES COMPLETED QUESTIONNAIRE 1 (Q1) A M A ONLY  A M A PLUS A M A COMPLEX  POST COUNSELLING at the Prenatal Assessment Unit(PAU) before having a prenatal test.  PRIOR TO COUNSELLING at the Medical Genetics clinic.  QUESTIONNAIRE 2 (Q2)  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 patients of  due t o i t s p o t e n t i a l t o d e c r e a s e p a t i e n t s '  information  provided  o f women i n a l l t h r e e questionnaires AO  (85%),  patients was  of  i n AC  (50%).  a procedure,  i n AC  between  in this  having  and up t o f o u r  included  (14%) f e l l  diagnostic  study  since  a d v a n c e d m a t e r n a l age w i l l their  risk  this  i n a previous  category  Presentation The collect advanced of  Q2 was  i n AP  (10%) and 5  category.  counselling  The t i m e  and c o m p l e t i o n  48 o f 311 p a t i e n t s  Q2 w i t h i n  four  weeks  after  procedure. had p r e n a t a l  their  risk  associated  have i n c r e a s e d  pregnancy.  are described  diagnosis  were  with  i n comparison t o  The breakdown o f women  i n the r e s u l t s  section.  o f Data  questionnaires information  used  in this  s t u d y were d e s i g n e d t o  f r o m women h a v i n g p r e n a t a l  m a t e r n a l age (as a m i n i m a l  information  example,  weeks u n t i l  although  i n AP and AC  c o u n s e l l i n g and  into this  who had p r e v i o u s l y  in this  and 18 o f 36  5 o f 52 p a t i e n t s  group completed  Patients  (44%),  receiving genetic  a prenatal  both  264 o f 311 p a t i e n t s i n  receiving genetic  Q l i n AO was u n a v a i l a b l e ,  (15%)  in  i n AP  The number  The maximum t i m e e l a p s e d  However, o n l y  36 p a t i e n t s  elapsed of  on t h e same day was:  23 o f 52 p a t i e n t s  completed.  counselling.  g r o u p s who c o m p l e t e d  two weeks between  having  i n genetic  retention  requested  involved  age, g r a v i d i t y , e t h n i c  diagnosis f o r  indication).  The t y p e s  demographic v a r i a b l e s  origin,  level  of  (for  education,  41 etc.), and  numerical  having  risks  associated with  advanced m a t e r n a l  a p r e n a t a l d i a g n o s t i c procedure,  information  regarding  their  involvement  and  with  age  personal  prenatal  diagnosis. All  questions  writer's  t h e s i s committee w i t h  were o b t a i n e d literature. the  were d e s i g n e d  i n c o l l a b o r a t i o n with  the  from q u e s t i o n n a i r e s T h e s e two  measures  S t a t e - T r a i t Anxiety  reported  of  two  i n the  which psychology  i n c l u d e d the A - S t a t e  Inventory  the S u b j e c t i v e S t r e s s S c a l e  exception  this  s c a l e of  ( S p i e l b e r g e r , 1970),  (Berkun, B i a l e k , Kern,  and  & Yagi,  1962) . In t h e evaluated and  regarding  apprehension  a list the  S t a t e - T r a i t Anxiety  of  20  remaining  instructed much s o . anxiety, patient  the gives  c a l m , " her analysis anxiety  t o the  items  reflect  items  presence of  item  the  from  s c o r i n g weights are  defines  of  i n the  (1)  with  of  Patients  not  at a l l ,  rating  are  indicates  low  For "I  example,  if a  the of  state  s t a t e s of  indicating  apprehensiveness,  very  feel  Thus,  indicating  from  and  (4)  1.  scores  items  to  increasing levels  scores  t e n s i o n and  the  worry,  feelings,  statement,  s e r e n i t y , intermediate  levels  these  a n a l y s i s i s only  low  of  reversed.  4 t o the  a continuum of  intensity,  Half  absence.  i n which a high  a score  p a t i e n t s were  tension, nervousness,  ( S p i e l b e r g e r , 1972).  relate  score  c a l m n e s s and moderate  f e e l i n g s of  t o r a t e each For  Inventory,  and  high  42 scores  reflecting  tearfulness The an  (Spielberger,  Subjective  emotional  adjective feeling  states of intense 1972).  Stress  Scale  i s also designed  s t a t e by r e q u i r i n g p a t i e n t s  from a l i s t  describes  at a p a r t i c u l a r point-in-time.  The l i s t  from very  i n Appendix  A.  Q2, and t h e S u b j e c t i v e  in  Q l and #10 i n Q2. there  t o compare will the  n o t be made i n t h i s data  will  p o s i t i v e t o very  Scale  diagnosis,  study are  i s included  i s included  studies of this  kind  measures o f s t a t i s t i c a l analysis.  Thus,  o f "more" o r " l e s s " w i l l  i n s i z e s of the three  to the various  in this  scale  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 .  differences  not  involves a  as #2  a s #21(b)  available  significance  the presentation of  involve a d e s c r i p t i v e a n a l y s i s only  interpretations rather  Stress  a r e no p r e v i o u s  r e s u l t s with,  used  The A - S t a t e  in  As  how t h e y a r e  examples.  Samples o f t h e q u e s t i o n n a i r e s included  to assess  t o c h o o s e one  o f 14 w h i c h b e s t  spectrum o f a d j e c t i v e s , ranging negative  a p p r e h e n s i o n and  such  that  refer toqualitative Due t o t h e  g r o u p s o f women i n a d d i t i o n  b a c k g r o u n d s and i n d i c a t i o n s f o r p r e n a t a l  a comparison  made i n t h i s  thesis.  between t h e t h r e e  g r o u p s o f women was  Chapter S i x Results Background The with  Data  women i n a l l t h r e e  respect  background. other  t o age, e t h n i c  variables  mentioned p r e v i o u s l y ,  the  origin,  A d e s c r i p t i o n of these  demographic  a previous  groups d i d not d i f f e r  All pregnant,  i n Table  in this  study  age 35 and o v e r  a t the expected  and, t h e r e f o r e ,  eligible  of patients  230 o f 311 i n AO  25 o f 36 i n AC majority  for prenatal  (N=34)) .  present  (70% i n AO  were  diagnosis.  diagnosis, villus  sampling  i n each g r o u p had (74%),  31 o f 52 i n AP  o f women i n e a c h g r o u p s a i d t h a t (70% i n AO  51% i n AC (N=35)), and t h a t  conceive  is  (60%),  (69%).  p r e g n a n c y was p l a n n e d and  i t  date o f  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  The m a j o r i t y  The  since  o f t h e women who p a r t i c i p a t e d i n t h i s  amniocentesis: and  diagnosis i n  i s of interest.  women c h o s e e i t h e r a m n i o c e n t e s i s o r c h o r i o n i c (CVS).  As  their  that  associated  study  2.  with  confinement, Depending  results i n addition to  women who had had p r e n a t a l  women's knowledge o f r i s k s  pregnancy  and e d u c a t i o n a l  i s included  p r e g n a n c y were i n c l u d e d  greatly  (N=306), i t took  71% i n AP  their (N=52),  l e s s t h a n one y e a r t o  (N=309) , 75% i n AP (N=52), and 79% i n AC  TABLE 2: BACKGROUND DATA AMA ONLY N = 311  AMA PLUS N = 52  AMA COMPLEX N = 36  37.089  37.615  37.083  ETHNIC ORIGIN - Caucasian  83% (257/311)  90% (47/52)  89% (32/36)  RELIGION - Protestant  45% (130/311)  48% (25/52)  58% (21/36)  EDUCATION - completed high school - > 2 yrs. postsecondary  25% (74/311) 63% (191/311)  22% (11/50) 66% (33/50)  27% (9/33) 64% (21/33)  2 (35%, 61/309) 41% (126/305)  4 (21%, 11/52) 75% (38/51)  2 (31%, 11/35) 64% (23/36)  17% (52/311)  40% (21/52)  25% (9/36)  AGE (mean)  OBSTETRIC HISTORY - gravida - >1 loss (SA)  PREVIOUS PND  45 Variables  Regarding  In a l l t h r e e t h e y had being  groups,  considered  given  Prenatal the  having  information  Diagnosis majority  prenatal  about  the  other  source:  i n AP  i n AC  (N=35) .  The PND" AO  first  and  second  i n e a c h g r o u p was (N=311) , 58%  wanting i n AO  t o have an  the  the  most  (N=52) and  patients  i n AC  The  a genetic  the  most  patients'  family  20%  i n AP  such  as  less  than  10%  important  f o r 12% reason  group  (66%  in  not  of  (36%  the  risk  (N=36)),  i n #9  counselling  was  having  (N=36) ) and  i n AC  included  (48%  (N=35)), o r  and of  as  the  about g e n e t i c  doctor  (N=44), and  family  39%  disorder  reason  identified  information  i n AC  i n AC  age  for  79%  in Ql.  by  In  genetic  a personal  also  or  indicated  of  the  patients  for  28%  of  as in  the  (N=36).  providing  43%  was  received  important  sources  and  risk  doctor/  (N=298),  "reasons  medical g e n e t i c i s t s , having  h i s t o r y of  second  42%  (N=52), and  question  c a s e where p a t i e n t s  family  i n a high  before  their  i n AO  important  (N=52), and  i n AP  This  and  77%  that  (PND)  from  a b n o r m a l baby r e g a r d l e s s  (N=311), 37%  counsellors  most  being  i n AP  respectively.  AP  69%  diagnosis  service  m e d i c a l g e n e t i c i s t or (N=52) , and  o f women s a i d  29%  i n AO  most  responsible  p r o b l e m s were (N=254), 23%  o b s t e t r i c i a n (17% i n AC  (N=35)).  f r i e n d s , media, or  a l l patients.  the  i n AP  i n AO  Other  for  (N=44),  (N=254),  possibilities  books were r e l e v a n t  Patients  who  were  for  counselled  by  genetic  Genetic of  c o u n s e l l o r s and m e d i c a l  Associate  the p a t i e n t s  (N=35). family  as t h e i r  i n AP  to  have PND  AC  (N=36)).  identified  question  as t h e f i r s t  (47% i n AO  (N=311), 40% i n AP  The s e c o n d  their  the majority  most  important  was t o have t h e o p t i o n i n AO  third  most  knowing  important  that  (N=52), and 33% i n  ( 2 2 % , N=36).  o f women  i n a l l three  groups  "reason  f o r choosing  (N=52), and 67% i n AC  (19% i n AO  Risks  Advanced M a t e r n a l  through  how i n f o r m e d  With  included  ( Q l ) were r e p e a t e d  respect  to risks  (52% i n AO  Age  the p a t i e n t s  knowledge g a i n e d  several questions  questionnaire (Q2).  to assess  the r e l a t i v e  process,  a n x i e t y by  (N=311), 16% i n AP  (N=36)), r e s p e c t i v e l y .  In o r d e r  (N=36).  (N=36)), and t o  (N=52), and 25% i n AC with  pregnancy:  The s e c o n d and  r e a s o n s were t o r e l i e v e  (N=52), and 56% i n AC  said  t o have PND"  an a b n o r m a l  as #20 i n Q l .  f o r an a b n o r m a l c h i l d  Associated  were  N=52) and AC  t h e b a b y ' s chromosomes were n o r m a l  (N=311), 46% i n AP prepare  the p a t i e n t s '  and f r i e n d s i n AO ( 2 1 % ,  of terminating  was i n c l u d e d  i n AC  (21%,  (N=311), 62% i n AP  This question  by o n l y 12%  most h e l p f u l i n d i v i d u a l (s)  as the p a t i e n t s ' f a m i l y  Finally,  50%  identified  a  most h e l p f u l i n making a d e c i s i o n  N=311) and o b s t e t r i c i a n i n AP  that  of information  (N=44) and 14% o f t h e p a t i e n t s  A supplementary doctor  source  g e n e t i c i s t s claimed  in their  were  counselling  i n the f i r s t  i n the second  a s s o c i a t e d with  questionnaire  advanced  47 maternal  age (AMA),  the r i s k s  syndrome were d i s c u s s e d . indicate having  had been t o l d  All  responses into  their  a baby w i t h  f o r numerical  The l i m i t s  were d e r i v e d from through  given  three l e v e l s ;  uninformed.  B.C. d a t a  used  o f the l e v e l s  i n Appendix  risk  to establish  fordifferent  75% o f a l l women s a i d  of having  that  number when  patients so. and An  reproduce  239 o f 304 p a t i e n t s i n AO  had been t o l d  their  (67%) a c t u a l l y  The o t h e r  risk,  e x p l a n a t i o n f o r treatment  representation  ages a r e  that  no r e c a l l  t h e y had  syndrome. their  requested. that  161 o f t h o s e 239 risk  when a s k e d the e n t r y  i n the data  t o do blank  analysis.  o f m i s s i n g d a t a w i l l be  i n the d i s c u s s i o n .  of these  that  had been t o l d  78 o f 239 p a t i e n t s (33%) l e f t  further  1981),  (79%) i n d i c a t e d  y e t only  reproduced  were c o n s i d e r e d a s h a v i n g  discussed  (Hook,  a baby w i t h Down's  risk  they  levels  D r . B. M c G i l l i v r a y .  they  example,  were  informed,  these  that  d i d not always  Down's  somewhat  f o r Down's syndrome  used  t o give  estimates  However, p a t i e n t s who c l a i m e d  For  risk of  B.  In Q l , a p p r o x i m a t e l y their  risk  with  of a l l  own age.  informed,  p e r s o n a l communication  A description  been t o l d  of having  i s a t age 30, 40, and a t t h e i r  categorized  included  risk  Down's  to f i r s t  a baby w i t h Down's syndrome, and s e c o n d l y ,  syndrome  and  a baby w i t h  P a t i e n t s were a s k e d  whether o r n o t t h e y  what t h e a p p r o x i m a t e  and  of having  results  A graphical  in addition  to Ql results  48 from  AP  and  The at  age  in  each  AC  are  included in Figure  numerical  30  and  group  response,  was  of having  g i v e n by  in Ql.  a baby w i t h Down's syndrome  less  In a d d i t i o n  t h e m a j o r i t y of  uninformed informed  40  risk  responses.  the  patients overall,  than  the  30%  to t h i s  risk  T h u s , due  1.  of the p a t i e n t s  low  level  of  e s t i m a t e s g i v e n were  t o such  results  low  from  numbers these  of  entries  were not t a b u l a t e d . In who  comparing  said  with  that  they  Q2  i n Q2  (N=50) f o r AP,  (N=34) f o r AC. reproduce an  Among  a risk  for  Q2  decreased  estimate having  Figure  i n Q2  1.  from  and  72%  in Ql  R e s u l t s of  i n c l u d e d f o r the  risk  79%  for their  65%  own  informed  in Ql  in Ql  in Ql  (N=20) t o  to there  70%  approximately unable  i n Q2  r e c a l l of  Down's syndrome a r e a l s o  same r e a s o n s  as  of  to r e c a l l their  patient  estimates  25%  f o r ages in Ql.  was  i n Ql  (N=25) t o  77%  98%  Q2  77%  (N=26)  t h e number o f p a t i e n t s h a v i n g  Q l t o Q2,  risk  in  i n Q2,  patients: 64%  in Ql  (N=52) t o  proceeded age  a baby  79%  (N=36) t o 100%  (N=221) f o r AO, and  of having  group from  t h o s e p a t i e n t s who  R e s u l t s f o r Q2  a baby w i t h  their  (N=305) f o r AO,  g r o u p were s t i l l  i n Q2.  t h e number o f p a t i e n t s  i n c r e a s e d i n each  However, a l t h o u g h  women i n each  not  responses,  been t o l d  estimate  (N=39) f o r AP,  AC.  recall  of  Q2  i n c r e a s e i n t h e number o f  (N=161) t o 82% in  had  Down's syndrome  (N=304) t o 93% in  Q l and  no  the risk  their  risk  included in 30  and  40  are  49  FIGURE 1. Q1: PATIENT RECALL OF RISK OF DOWN'S % WHO REPORTED RECEIVING RISK 100  A M A ONLY INFORMED UNINFORMED  AMA P L U S  AMA C O M P L E X  H SOMEWHAT INFORMED L"ZH NO RECALL  Q 2 : PATIENT RECALL OF RISK OF DOWN'S % WHO REPORTED RECEIVING RISK  100  A M A ONLY INFORMED UNINFORMED  AMA P L U S  AMA C O M P L E X  H SOMEWHAT INFORMED LU NO RECALL  50 In  addition  regarding  risks  to determine of  having  This a  w i t h AMA,  how many women s i m p l y  risk  between  by s c o r i n g  patients  t h e d a t a were a l s o  recognized  that  i ftheir analysis  with age.  t h e number o f women who gave  age was w i t h i n showed  their  responses  that  these  only  limits.  13% i n AO  (N=36) i n d i c a t e d i n Ql,  used  the risk  f o r age 30 t h a n a t age 40, and a r i s k  (N=52), and 22% i n AC  through  t h e number o f i n f o r m e d  a baby w i t h Down's syndrome i n c r e a s e s  from t h i s AP  associated  was a c c o m p l i s h e d  lower  in  to scoring  estimate The r e s u l t s  (N=311), 16% i n  this  knowledge  and even fewer p r o p o r t i o n s i n  Q2. Finally, felt  about  their  syndrome. they  felt  patients felt  that  that  their  their  high  risk  was h i g h  was low.  of the p a t i e n t s  o r low.  felt  Again,  (N=49) i n Q2 f e l t  that  whether  I n AO, 51% o f t h e (N=297) i n Q2  who d i d n o t  that  I n AP, 50% o f t h e p a t i e n t s  their  r i s k was  (14% i n Q l  (N=46) i n Q l and their  a l t e r n a t i v e r e s p o n s e s were e i t h e r  and 37% i n Q2) o r a v e r a g e  risk  to indicate  The p a t i e n t s  perception  Down's  (35% i n Q l and 31% i n Q2) o r a v e r a g e  45%  Finally,  a baby w i t h  t h e y were a s k e d  risk  a low r i s k  10% i n Q 2 ) .  Ql  of having  t o i n d i c a t e how t h e y  (N=288) i n Q l and 59% o f t h e p a t i e n t s  and  high.  were a l s o a s k e d  own r i s k  F o r example,  respond with either  patients  r i s k was low (35%  in  (15% i n Q l and 18% i n Q 2 ) .  i n AC, 44% o f t h e p a t i e n t s  was low and 44% o f t h e p a t i e n t s  (N=32) f e l t felt  that  i t was h i g h  their in Ql.  51 Comparing  this  perception patients  t o Q2, t h e number o f p a t i e n t s w i t h  increased  feeling  In t h e p r o v i n c e having  a baby w i t h  1979).  sample o b t a i n e d risk  estimate  their  their  risk  was low, and 9%  Neural  Tube  Defects  of B r i t i s h  a neural  T h i s anomaly  Columbia,  tube d e f e c t  i s routinely  f r o m women h a v i n g  a woman's r i s k o f  screened  amniocentesis.  In o r d e r  t o assess  i n the p r e n a t a l  counselling  f o r n e u r a l t u b e d e f e c t s was p r o v i d e d  this  and i f s o , i f t h e y  whether o r n o t  were i n f o r m e d ,  t o women i n  a q u e s t i o n was  i n e x a c t l y t h e same manner as t h e p r e v i o u s  That  i s , t h e women were a s k e d  risk  of having  what d i d t h e y and  at their  in  the design  risk  The 1/700  a p p l i e s t o t h e m a j o r i t y o f women r e g a r d l e s s o f  process.  patient  (McBride,  f o rusing the  counselling  included  average.  i s 1/700  age and may o r may n o t be i n c l u d e d  study,  with  a baby w i t h think  i f they  a neural  the approximate  own a g e . of these  had been t o l d  questions  risk  their  risk  was a t age 30, 40, consistency  r e v e a l whether t h e  age o r n o t . 40% o f a l l women s a i d  of having  defect.  As i n t h e p r e v i o u s  who s a i d  that  they  their  was n o t t o p r o v i d e t h e  any i n f o r m a t i o n t h a t c o u l d  In Q l , a p p r o x i m a t e l y  question.  tube d e f e c t , and i f s o ,  The p u r p o s e o f m a i n t a i n i n g  was a s s o c i a t e d w i t h  been t o l d  risk  t o 50% (N=34), l e a v i n g 41% o f t h e  that  Risk A s s o c i a t e d with  a high  a baby w i t h  t h a t t h e y had  a neural  tube  q u e s t i o n , n o t a l l o f t h e women  had been t o l d  their  risk  were a b l e t o  52 reproduce  that  risk  when r e q u e s t e d  patients  i n AO  of  those  139 p a t i e n t s  of  51 p a t i e n t s  only  (45%) r e p o r t e d  finally, risk  14 o f 35 p a t i e n t s  with  risk. three  only  8 of those  groups:  demonstrating  associated  with  In c o m p a r i n g reported  having  increased AC  able  i n AP  70% i n AP  a risk  risk  a r i s k , and receiving a  1 o f 4 i n AP are included  of response  Ql results,  of  response  Figure  regarding  p a t i e n t s continued  majority  i n each  group.  2,  neural  tube  defects  (N=49), and 97%  in  t h e number o f women who were  also increased  i n AO  (60%),  2 demonstrates  informed  i n Figure  t h e number o f women who  t o 72% i n AO  (N=32).  patients varied across  f o ra l l groups.  ( 2 5 % ) , and  regarding  However,  As i n Q l ,  the three  14 o f 31 p a t i e n t s  and 6 o f 22 p a t i e n t s i n AC ( 2 7 % ) .  to  a  defects.  (N=44), and 69% i n AC  104 o f 174 p a t i e n t s  (45%),  tube  In a d d i t i o n t o t h i s , their  with  (57%) r e p r o d u c i n g  (N=300), 90% i n AP  number o f i n f o r m e d  groups:  (62%),  low l e v e l  received  19  p a t i e n t s v a r i e d across the  Q l t o Q2 r e s p o n s e s ,  t o reproduce  (N=241), the  14 p a t i e n t s  neural  t o 80% i n AO  (N=33).  receiving a risk  A l lQl results  an o v e r a l l  o n l y 73  a risk,  i n AC (40%) r e p o r t e d  45 o f 73 i n AO (13%).  with  reproducing  (21%) r e p r o d u c i n g  The number o f i n f o r m e d  1 o f 8 i n AC  risks  (37%) r e p o r t e d  19 p a t i e n t s  139 o f 307  receiving a risk  (53%) a c t u a l l y  i n AP  4 o f those  t o do s o :  In comparison  an i n c r e a s e the o v e r a l l  t o represent  less  i n the l e v e l numbers o f  than a  53  FIGURE 2. Q1: PATIENT RECALL O F RISK O F NTDs % WHO REPORTED RECEIVING RISK 100 80  60  N-307  N-51  N-35  A M A ONLY  AMA PLUS  AMA C O M P L E X  INFORMED  WM  UNINFORMED  L~Z3 N O R E C A L L  SOMEWHAT INFORMED  Q2: PATIENT RECALL OF RISK O F NTDs % WHO REPORTED RECEIVING RISK  A M A ONLY  AMA PLUS  INFORMED  H  UNINFORMED  L"Z] N O R E C A L L  AMA COMPLEX  SOMEWHAT INFORMED  54 Since  the response  tube d e f e c t s groups  a t ages  i n both  Q l and Q2, t h e r e s u l t s  tabulated.  how  many women s i m p l y  is  However, t h e d a t a  a neural  for  tube d e f e c t  was  as t h o s e  who c o u l d  patients  i n AO  Comparing  these  of having  i s not associated with  that  (N=311), 24% i n AP As  this  were a l s o a s k e d  a baby w i t h  patients  information  i n AO  a neural  (N=36) gave a r e s p o n s e  to this  was low:  (159 o f 203 i n AO  14 o f 21 i n AC  (67%).  (N=52), and information.  t o 15% i n AO  Down's syndrome,  about  their  In Q l ,  r i s k of  65% o f t h e  (N=52), and 58% i n AC  question,  t h e women i n e a c h g r o u p s a i d  this  8% o f t h e  (N=36).  tube d e f e c t .  (N=311), 56% i n AP  i n AP  increased  felt  o r n o t ) , as  i n Q2, t h e number o f  regarding  how t h e y  estimate  number y e t  In Q l , o n l y  found  question  age and  were aware t h a t i t  (N=52), and 14% i n AC  i n the p r e v i o u s  patients  they  i n AC (N=36) i d e n t i f i e d t o those  a  T h i s was a c c o m p l i s h e d by  not r e c a l l the exact  results  women a c k n o w l e d g i n g  and  t o determine  the risk  (N=311), 6% o f t h e p a t i e n t s  o f the p a t i e n t s  risk  e n t r i e s were  own age (be i t i n f o r m e d  on t h e q u e s t i o n n a i r e  neural  30% by a l l  from these  that  t h e same f o r women o f a l l a g e s .  having  than  with  t h e number o f women who gave t h e same r i s k  indicated  of  acknowledged  age 30, 40, and t h e i r  well  associated  was r e v i e w e d  t h e same f o r a l l women i n B.C.  scoring  3%  to risks  30 and 40 were l e s s  not  baby w i t h  rates  that  whereas a m a j o r i t y  they  (78%),  felt  that  their  17 o f 29 i n AP  In Q2, t h e r e s p o n s e  rate  (59%),  increased  in  each  i n AC  g r o u p t o 84% i n AO  i n AO  to feel  A prerequisite prenatal diagnostic procedure. eligible either  Given  that  their  risk  was l o w :  Prenatal Diagnostic  t o an i n f o r m e d procedure  210 o f 260  that  an a m n i o c e n t e s i s  having  procedures, in order alone.  decision  t o have a  a l l patients in this  study  were  a n d , s u b s e q u e n t l y , had  or chorionic  v i l l u s sampling  (CVS),  several questions regarding risks associated  a p r e n a t a l diagnostic procedure. t h e same s p e c t r u m  t o reduce  of risk  P a t i e n t s who l e f t  F o r both  e s t i m a t e s was p r o v i d e d  t h e number o f c o r r e c t  responses  the entry blank  d i d n o t know t h e r i s k  having  Procedures  i s knowledge a b o u t t h e  t o have a p r e n a t a l t e s t  women were a s k e d  by c h a n c e  or indicated  that  were s c o r e d and t a b u l a t e d as  no r e c a l l .  In  response  to the r i s k  associated with  amniocentesis, F i g u r e 3 demonstrates  that  patients  i n each  having  to  informed  being  patients 74%  (N=52), and 81%  ( 8 1 % ) , 29 o f 41 i n AP ( 7 1 % ) , and 16 o f 29 i n AC ( 5 5 % ) .  Risks A s s o c i a t e d with  they  79% i n AP  (N=36), and as i n Q l , t h e m a j o r i t y o f t h e women i n each  group c o n t i n u e d  with  (N=311),  i n each  group advanced i n Q2. group  from  h a v i n g an  a large  number o f  no r e c a l l  in Ql  Thus, t h e number o f i n f o r m e d  i n c r e a s e d from  20% (N=299) i n Q l t o  (N=305) i n Q2 f o r AO, 32% (N=50) i n Q l t o 68% (N=52) i n  Q2 f o r AP, and 16% (N=35) i n Q l t o 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 g r o u p s  FIGURE 5. Q1: PATIENT RECALL OF RISK WITH AMNIO  Q2: PATIENT RECALL OF RISK WITH AMNIO % WHO RESPONDED N-305  N-52  N-35  57  FIGURE 4. Q1: PATIENT RECALL OF RISK WITH CVS % WHO RESPONDED  100  AMA ONLY mM  INFORMED  AMA PLUS 1  AMA COMPLEX  UNINFORMED  NO  RECALL  Q2: PATIENT RECALL OF RISK WITH CVS % WHO RESPONDED  100  AMA ONLY •1  INFORMED  AMA PLUS 1 UNINFORMED  AMA COMPLEX 111  NO RECALL  58 concerned. Patient also  showed  r e c a l l of the r i s k an i n c r e a s e  a s s o c i a t e d with  i n t h e number o f i n f o r m e d  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 Figure AP  4.  results  g r o u p s were and  for  t o Q2,  a l l three Although  nonetheless therefore,  58% i n AO  (N=35).  regarding  (N=35) were  the m a j o r i t y  informed:  51% i n AC  entries  Once  the r i s k  ultrasound  included  in  across  the response CVS  (N=51),  rate for a l l was  above  i n prenatal care,  that  there  in Figure  90%  a miscarriage i n Figure  i tis was,  regarding  F o r t h e most t h e same  an a v e r a g e o f 75% o f  i s no known r i s k Results  from  of having this  a  question  5. regarding  risks  a p r e n a t a l d i a g n o s t i c procedure, what  and  p a t i e n t s i n Q l remained  due t o u l t r a s o u n d .  were a l s o a s k e d  As s e e n  63% i n AP  prenatal procedures.  In a d d i t i o n t o i n f o r m a t i o n  having  (N=302),  a l l groups, maintaining  women r e c o g n i z i n g  having  Comparing  i n s c o r i n g p a t i e n t knowledge  t h e number o f i n f o r m e d  with  42% i n  i s n o t an i n v a s i v e t e c h n i q u e ,  part,  included  (N=292),  groups.  a s s o c i a t e d with  are  patients.  i s included i n  informed.  a s s o c i a t e d with  a routine procedure  miscarriage  CVS  of p a t i e n t s i n a l l three  again,  risks  Q2  results  In Q l , 43% o f t h e p a t i e n t s i n AO  (N=51), and 27% i n AC  these  having  they  t h o u g h t was  i n the f i r s t  6, t h e r e s u l t s  associated  patients  the approximate  twelve  r i s k of  weeks o f p r e g n a n c y .  form t h i s  entry  reveal 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 H  U N I N F O R M E D  AMA COMPLEX 1111  N O  R E C A L L  Q 2 : 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 I  U N I N F O R M E D  AMA COMPLEX ! ! •  N O  R E C A L L  60  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 1 UNINFORMED  AMA  COMPLEX  111 NO RECALL  61 the  p a t i e n t s were  in comparison testing. i n AO  very  unaware o f t h e m a g n i t u d e o f t h i s  t o the r i s k  In Q l , t h e p r o p o r t i o n  (N=299), 32%  i n AP  Q2,  t h e number o f i n f o r m e d  33%  i n AP  small  (N=48), and  increase Based  options the  estimates  regarding  of informed  (N=50), and 16%  26%  i n AC  21%  provided  available in prenatal testing  i n AO  patients  with  amniocentesis,  AP  (N=49), and  t o have t h i s pregnancy. (N=272),  71% i n AC  method CVS  was  61% i n AP  ultrasound  was  97% i n AC  choosing  79% o f t h e p a t i e n t s (N=31) s a i d  that  they  i n the event of a  c h o s e n by  52% o f t h e p a t i e n t s  c h o s e n by 97% i n AO (N=31).  a particular  One  (N=30).  (N=293),  of t e s t i n g  diagnosis  future i n AO Finally,  included  reported  in comparison  to amniocentesis:  10% o f t h e p a t i e n t s  Knowledge All increased  (N=52), and 3%  i n AC  i n Problems Regarding Abnormal p a t i e n t s who risk  a baby w i t h  refusal  miscarriage i n AO  (N=36). Results  participated in this  of having  of  the  due t o i t s h i g h e r  i n AP  risk  (N=49),  f o r not  t o c h o o s e CVS  (N=311), 10%  69% i n  96% i n AP  o f the reasons given  method  would o r  would c h o o s e  of t e s t i n g  (N=46), and 30% i n AC  a  to  (N=295),  they  only  pregnancies,  to prenatal i n AO  In  i n AC.  for future  With r e s p e c t  20%  (N=297),  respect  p a t i e n t s were a l s o a s k e d w h i c h p r o c e d u r e s  by  (N=35).  (N=35), d e m o n s t r a t i n g  i n t h e number o f i n f o r m e d  on t h e i n f o r m a t i o n  prenatal  p a t i e n t s were  i n AC  p a t i e n t s were  would n o t h a v e , and why.  and  given  risk  study  were a t  a chromosomal p r o b l e m .  62 For  this  with  reason, p a t i e n t s  were a s k e d  the s o r t s o f problems  i f t h e y were  familiar  t h a t p e o p l e w i t h Down's  syndrome  exper i e n c e . Patients associated  i n a l l three  w i t h Down's syndrome.  were m e n t a l  retardation  (N=52), and AC  35% i n AP  problems  (15% i n AO  short  (N=311), 27% i n AP  b e h a v i o u r a l problems. problems  requested  in this  Patients  were  associated  (N=311), AP (20% i n AO  (N=36)),  and h e a r t  (N=52), and 28% i n AC  i n each g r o u p  included a  a p p e a r a n c e , and source of information  w i t h Down's syndrome was n o t  i f t h e y were  familiar  with the  e x p e r i e n c e d by p e o p l e w i t h a n e u r a l terms,  24% o f t h e p a t i e n t s  (N=52), and 42% i n AC  these people are p h y s i c a l l y  handicapped.  problems  (29% i n AO  included  problems  question.  I n most g e n e r a l  (N=311), 27% i n AP  problems  i d e n t i f i e d by  The p a t i e n t s '  were a l s o a s k e d  s o r t s o f problems defect.  which  an u n u s u a l f a c i a l  regarding  handicapped*  (N=52), and 19% i n AC  15% o f t h e p a t i e n t s  life-span,  several  The most common  physically  Other problems  approximately  identified  ( a p p r o x i m a t e l y 70% i n AO  (N=36)),  (N=311),  (N=36)).  groups  paralysis  O t h e r more  that specific  (N=311), 23% i n AP  (N=36)),  AO  (N=52), and 23% i n AC  * = exact d e f i n i t i o n  i n AO  (N=36) s a i d  (N=52), and 33% i n AC (N=311), 15% i n AP  skeletal  tube  abnormalities  (15%  (N=36)), and  of t h i s problem not p r o v i d e d .  in  retardation AC  (12% i n AO (N=311), 25% i n AP (N=52), and 6% i n  (N=36). In order t o explore whether or not the women had  considered the r e p e r c u s s i o n s of having an abnormal pregnancy, they were a l s o asked what would be the most  significant  problem f o r them i f they were t o have a baby with Down's syndrome.  The four most common problems i d e n t i f i e d  i n each  group were having t o worry about who would care f o r the c h i l d once the parents grew o l d (27% i n AO (N=311), 25% i n AP (N=52), and 22% i n AC (N=36)), coping with the problems a s s o c i a t e d with the syndrome  (30% i n AO (N=311), 27% i n AP  (N=52), and 22% i n AC (N=36)), the e f f e c t t h e i r family l i f e  i t would have on  (15% i n AO (N=311), 29% i n AP (N=52), and  17% i n AC (N=36), and the emotional s t r e s s and lack of p a t i e n c e they would experience  (15% i n AO (N=311), 17% i n AP  (N=52), and 11% i n AC (N=36). 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 Diagnosis Women who are 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 may  experience a v a r i e t y of emotions. be induced depending upon t h e i r  The v a r i o u s responses may  indication for prenatal  t e s t i n g , through l e a r n i n g about 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 an advanced maternal age, or from making a d e c i s i o n t o have an i n v a s i v e p r e n a t a l procedure. In both q u e s t i o n n a i r e s , p a t i e n t s were asked how anxious  64 they were f e e l i n g at that moment on a s c a l e from 1 to 4. R e f e r r i n g back to Table 1, p a t i e n t s i n AO were, t h e r e f o r e , revealing their immediately  feelings  i n Ql p o s t - c o u n s e l l i n g  and  before t h e i r procedure, p a t i e n t s i n groups AP  AC were s t a t i n g  their  feelings  and  i n Ql immediately b e f o r e t h e i r  g e n e t i c c o u n s e l l i n g s e s s i o n , and p a t i e n t s i n a l l three groups revealed  i n Q2 how  Even though Ql  they were f e e l i n g  50%  i n AC  (85% i n AO  (N=311), 44%  (N=36) , there e x i s t  those p a t i e n t s who procedure may immediately  completed  Q2 w i t h i n four weeks a f t e r  t h e i r procedure.  timing of q u e s t i o n n a i r e completion and on the r e s u l t s w i l l The  be included  A d e s c r i p t i o n of the i t s potential  effect  to a f t e r having a procedure f o r a l l groups.  moderately  anxious.  not at a l l anxious.  felt  In AC,  and AP f e l t  In Q l ,  somewhat anxious  Once the procedure was  m a j o r i t y of p a t i e n t s i n AO  complete,  the  somewhat anxious to  however, the m a j o r i t y of p a t i e n t s  somewhat anxious to moderately anxious.  r e s u l t s are presented i n F i g u r e s In  completed  i n the d i s c u s s i o n .  the m a j o r i t y of p a t i e n t s i n each group  remained  their  s t a t e a n x i e t y decreased from before having a  procedure  to  this  For example,  have been l e s s anxious than those who after  both  i n AP  l i m i t a t i o n s of  a n a l y s i s r e g a r d i n g the e f f e c t of v a r i a b l e time.  Q2  procedure.  most of the p a t i e n t s i n each group completed  and Q2 on the same day  (N=52), and  after their  These  7-9.  the second q u e s t i o n n a i r e , the same type of q u e s t i o n  65  FIGURE 7.  ANXIETY STATE: A M A ONLY somewhat  30%  PRE-PROCEDURE N=304  not at al  somewhat 42% 16%  POST-PROCEDURE N=303  66  FIGURE 8.  ANXIETY STATE: A M A P L U S somewhat  35%  PRE-PROCEDURE N=52  somewhat 39%  moderately so 26%  POST-PROCEDURE N=51  67  FIGURE 9.  ANXIETY STATE: A M A C O M P L E X somewhat  26%  PRE-PROCEDURE N=34  somewhat 48%  26%  POST-PROCEDURE N=35  was a l s o used to ask p a t i e n t s how anxious regarding the t e s t r e s u l t s  they were  (see F i g u r e 10).  In t h i s  feeling case,  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 f e e l i n g somewhat  anxious  to moderately anxious.  more p a t i e n t s i n AP  (27%, N=304), and AC  In a d d i t i o n t o t h i s , (23%, N=35) f e l t  very anxious  regarding the t e s t r e s u l t s than those who  very anxious  once the procedure was complete  (N=303), 3% i n AC  felt  (8% i n AP  (N=35)).  In response to the S u b j e c t i v e S t r e s s S c a l e , most of the patients  i n a l l three groups progressed  in Q l (31% i n AO  (N=275), 35% i n AP  (N=34)) to f e e l i n g  f i n e i n Q2  (N=48), and 22% i n AC one  (N=238), 25% i n AP  P a t i e n t s who chose more  item t o best d e s c r i b e how they were f e e l i n g  or Q2 were not i n c l u d e d i n the a n a l y s i s of t h i s The Anxiety  r e s u l t s from the A-State Inventory  nervous  (N=43), and 44% i n AC  (31% i n AO  (N=36)).  from f e e l i n g  than  i n either Ql question.  s c a l e of the S t a t e - T r a i t  were t a b u l a t e d f o r each p a t i e n t using a  s c o r i n g key provided by C o n s u l t i n g P s y c h o l o g i s t s Press ( S p i e l b e r g e r et a l . , 1970).  A score could range from a  minimum of 20 to a maximum of 80. were averaged to g i v e a f i n a l 40.77 i n AP  In each group, the scores  score of 37.41 i n AO (N=264),  (N=44), and 42.72 i n AC (N=34).  A d d i t i o n a l Comments A d d i t i o n a l comments  were made by the p a t i e n t s with  respect to t h e i r o v e r a l l experience  with p r e n a t a l d i a g n o s i s  69  FIGURE 10.  ANXIETY STATE: TEST RESULTS somewhat 51% not at all 9% very much s o 14% moderately 26%  so  AMA ONLY N=304  somewhat 36% not at all 10%  moderately 27%  so v e r y much s o 27%  AMA PLUS N=52  70 for in  advanced AO  that not  m a t e r n a l age.  (N=311), 69% i n AP nothing  On a s c a l e  disappointed, said in  that  AP  the procedure  A t t h e end o f Q2, t h e p a t i e n t s  t h e y were w i t h  received.  o f a l l , 74% o f t h e p a t i e n t s  (N=52), and 69% i n AC (N=36)  had happened d u r i n g  expected.  satisfied  First  the o v e r a l l  from  (1) v e r y  the majority  t h e y were v e r y  counselling  of patients  (N=51), and 80% i n AC  i n a l l three  Finally,  reserved  a t t h e end o f e a c h q u e s t i o n n a i r e  revealed  that  in the  AP  patients  i n each group  involved  were d e s c r i b e d  as v e r y  friendly,  (N=300), 78%  f o r any comments  (16% i n AO  i n the a c t u a l p r e n a t a l  groups  a section  (N=52), and 19% i n AC (N=36)) were v e r y  staff  they  t o (4) q u i t e  64% i n AO  (N=35).  t h e y had  were a s k e d how  satisfied  satisfied:  that  said  (N=311), 33%  i m p r e s s e d by  procedure.  supportive,  and  They  informative.  A D e s c r i p t i v e C o m p a r i s o n Between t h e C o m p l e t e D a t a S e t and an Incomplete  Data S e t (Ql Only)  Subjects eligibility write  were  for prenatal  English.  excluded  questionnaire.  various  patients,  diagnosis  study  b a s e d on  and a b i l i t y  study,  and, t h e r e f o r e ,  As m e n t i o n e d p r e v i o u s l y ,  these  reasons.  in this  t o r e a d and  T h o s e who d i d n o t meet t h e s e c r i t e r i a  from t h i s  who d i d meet  included  criteria This  and c o m p l e t e d  were n e v e r there  were  given  a  38 women  Q l , b u t n o t Q2 f o r  s u b s e t o f women c o m p r i s e d  11 AP p a t i e n t s ,  were  24 AO  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  this  subset of p a t i e n t s differences of  showed  between t h e i r  the p a t i e n t s  who  that  t h e r e were no  apparent  Q l r e s p o n s e s and t h e Q l r e s p o n s e s  completed  both  questionnaires.  72 Chapter  Seven  Discussion The genetic  present  study  suggests  c o u n s e l l i n g process  prenatal  diagnosis  emotional  will  that  the e f f e c t i v e n e s s o f the  regarding  vary  age-related  d e p e n d i n g upon t h e p a t i e n t ' s  r e a c t i o n and i n d i v i d u a l c i r c u m s t a n c e s  their  involvement  with  part,  the genetic  counselling provided  geneticists, has  genetic  prenatal  been shown t o be i n f o r m a t i v e  provided in  that  regarding  F o r t h e most  by m e d i c a l care  and s u p p o r t i v e the f a c t u a l  physicians  forpatients. information  i n c o u n s e l l i n g may n o t a l w a y s be t h e d e c i d i n g  t h e p a t i e n t s ' d e c i s i o n t o have p r e n a t a l  facilitate be  diagnosis.  c o u n s e l l o r s , and p r i m a r y  However, t h e r e s u l t s s u g g e s t  r i s k s and  diagnosis.  the i n t e r p r e t a t i o n of the r e s u l t s ,  discussed  i n the order  of presentation  factor To  findings  will  i n the previous  sect ion. A D e s c r i p t i o n o f t h e Sample The  sample o f women i n v o l v e d  population age in  o f women who a r e p r e g n a n t  (35 y e a r s  and o v e r  a t EDC).  years.  experienced  the second  one o r more l o s s e s  a  maternal t h e women  o f age, C a u c a s i a n ,  education  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 forat least  represents  a t an a d v a n c e d  37 y e a r s  and had a p o s t - s e c o n d a r y  were p r e g n a n t  study  F o r t h e most p a r t ,  e a c h g r o u p were a p p r o x i m a t e l y  Protestant,  in this  that time,  (spontaneous  o f two o r more  most o f t h e women and had abortions).  73 In choosing to have 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 age  and  important r o l e . CVS  i n d i c a t i o n for prenatal diagnosis Due  of a l l , g e n e t i c  g r e a t e s t age,  i n d i c a t i o n s , and  have p r i o r i t y .  amniocentesis was  Therefore,  the  fact  that  is a  of  greater  CVS.  Reasons f o r Having P r e n a t a l  Diagnosis  main reasons f o r the p a t i e n t s to have p r e n a t a l  diagnosis group, and  were (a) because they were i n a high  risk  age  (b) because they d i d not want to have an abnormal  baby, r e g a r d l e s s  of t h e i r  i d e n t i f i e d by p a t i e n t s  risk.  i n AP  and  h i s t o r y of a g e n e t i c d i s o r d e r .  Another reason which  was  AC was  family  a personal  T h i s was  or  to be expected  the d e f i n i t i o n s of the three groups based on prenatal  secondly,  suggest that there  d e s i r e f o r amniocentesis than  The  an  patients  the chosen procedure f o r the m a j o r i t y  women i n each group does not  The  played  to a l i m i t e d time schedule committed f o r  procedures at Grace H o s p i t a l , Vancouver, B.C.,  with f i r s t  the  given  indications for  diagnosis.  A t o t a l of e i g h t p a t i e n t s  i n the e n t i r e study group  responded that t h e i r most important reason to come f o r prenatal diagnosis  was  to f i n d out  the sex of the baby.  Seven of these p a t i e n t s came from the community was  r e f e r r e d to the Department of Medical  minor c o m p l i c a t i o n  (AP).  (AO),  Genetics  and  due  one  to a  Through looking at these i n d i v i d u a l  p a t i e n t s more c l o s e l y , i t was  observed that 4 of the  8  p a t i e n t s were East Indian, p r a c t i c i n g e i t h e r Hindu  the Sikh  (2) r e l i g i o n , and one p a t i e n t was Chinese Roman  Catholic.  The remaining  three p a t i e n t s had l e f t  the e n t r i e s  asking t h e i r e t h n i c o r i g i n and r e l i g i o u s a f f i l i a t i o n Given  (2) or  the f a c t that there were only four East  who p a r t i c i p a t e d  i n t h i s e n t i r e study,  blank.  Indian p a t i e n t s  t h i s suggests  that a  c o r r e l a t i o n e x i s t s between East Indians and the use of p r e n a t a l d i a g n o s i s f o r sex d e t e r m i n a t i o n . c o u n s e l l i n g process  T h e r e f o r e , the  f o r such p a t i e n t s should concentrate on  the c u l t u r a l s i g n i f i c a n c e of sex d e t e r m i n a t i o n  i n 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 advanced maternal age. The  Reasons f o r Wanting P r e n a t a l  Diagnosis  A l l women i n t h i s study have at l e a s t age as a common indication for prenatal diagnosis. important  reason  However, the most  f o r wanting t o have a p r e n a t a l t e s t  will  depend on each i n d i v i d u a l and her p e r s o n a l experience  with  prenatal diagnosis. The  f i r s t and second most important  reasons  PND were (1) to have the o p t i o n to terminate  f o r wanting  an abnormal  pregnancy, and (2) t o r e l i e v e anxiety by knowing that the baby's chromosomes were normal, r e s p e c t i v e l y . given f o r wanting PND was to prepare pregnancy.  A third  reason  f o r an abnormal  T h i s o p t i o n was included i n t h i s q u e s t i o n to  assess how many women would not choose to terminate an abnormal pregnancy when given the o p p o r t u n i t y .  75 Unfortunately, make s i n c e as  their  assessment d i f f i c u l t  were women i n a l l t h r e e  important  reason.  terminate"  researcher the  make t h i s  reason,  concludes  g r o u p s who c h o s e (1)  with  second  or t h i r d  "to terminate"  t o t h e same q u e s t i o n ,  that  either  or that  they  d i d understand  a s t o what  they  would  question  undecided  By r e s p o n d i n g  i n that order  to  and t h e o p p o r t u n i t y t o  f o r an a b n o r m a l baby as t h e i r  important not  there  most  prepare  the r e s u l t s  most and  "to  this  t h e women d i d n o t u n d e r s t a n d i t , but are  do i f an a b n o r m a l r e s u l t was  found. The  Decision-Making The  results  show t h a t  g r o u p had t h o u g h t receiving  studies  of this  information, reassure  feel  risks an  f o r example, suggests  r i s k of  that  there  regarding the a  i s given  counselling process  information  decision  techniques  consent  PND p r i o r t o  i n the absence o f r e l e v a n t  the g e n e t i c  in their  i n each  one t h a t women may make d e c i s i o n s  p r o v i s i o n of accurate  informed  having  t h e community  them by p r o v i d i n g  and m e d i c a l  of patients  I t h a s a l s o been s u g g e s t e d i n  testing  and t h a t  confident The  to this  prenatal  This  Diagnosis  s e r v i c e , and, subsequently,  interest.  similar  regarding  to  etc.  an a w a r e n e s s w i t h i n  corresponding  the m a j o r i t y  information,  eligibility,  availability  Regarding P r e n a t a l  about or c o n s i d e r e d  any s p e c i f i c  miscarriage, exists  Process  that helps  (Sorenson,  information  i s very  serves them  1981). regarding  important  specific  t o ensure  t o have p r e n a t a l d i a g n o s i s .  that In  76 this  study,  received doctor never  a large  number o f women i n a l l t h r e e  the bulk of t h e i r  or o b s t e t r i c i a n . seen a g e n e t i c  completed.  counsellors  43%  g r o u p s AP  of  information had  counsellor The  consent  were  included  information  should  autonomy  identified  most  prenatal  have  study  source  genetic  i s to provide  their  that  in their  were their  to  this,  and process.  the i n d i v i d u a l s  responsible  i n making  The q u e s t i o n  support  decision-making  reveal  the  informed  with  t h e most  the data  patients  this  the p a t i e n t  h e l p f u l t o them  from  of  In a d d i t i o n  information  be a s s e s s e d  (N=52)  main  needs t o make an  the necessary  autonomy  their  diagnosis.  throughout  experienced  i n AP  i f the d e s i g n  counsellor  a patient  as b e i n g  may  t h e main  Perhaps the  identified  was  response.  provide  diagnosis.  doctor  a medical g e n e t i c i s t or a  prenatal  r e s u l t s from t h i s  them w i t h the  could  probably  genetic  the f a m i l y  more s p e c i f i c a l l y  regarding  complete The  and AC  family  i n AP o r AC  f o r 23% o f t h e p a t i e n t s  as an a v a i l a b l e  counsellors  patients  making  r o l e of the g e n e t i c  necessary  had most  (N=36) an o v e r e s t i m a t i o n .  in  question  i n AP  their  p r i o r t o t h e t i m e when Q l  to this,  as " d o c t o r s , "  i n AC  from  t h e m e d i c a l g e n e t i c i s t s and  source of i n f o r m a t i o n and  Patients  counsellor  In a d d i t i o n  have p e r c e i v e d  information  g r o u p s had  also  for providing identified  decisions  o f whether o r n o t  as  t o have they  decision-making process  a v a i l a b l e , but w i l l  who  cannot  be d i s c u s s e d  in  77 a subsequent reported The  research  study  Risks  The  and  Prenatal  o b j e c t i v e of  information informed  genetic  For  the  counselling provided  medical  geneticists,  to  estimates  how  recognize  by  to  the  cases  numerical  i n both  since  m a t e r n a l age  risk  estimates,  questionnaires This  i t i s unknown as  uninformed  or  not  remember t h e  In t h e they  event  the  process  was  this  blank  by  their  risk having  a  or  could  inadequate  requiring there  within  because  a l l three  i n the  the  were  a n a l y s i s of not  a  patient  answer o r  i f she  questions  blank  was did  not  question.  that patients  were u n i n f o r m e d  estimates,  assessed  t o whether or  left  could  and  causes a problem  was  understand  and  from q u e s t i o n s  question  or  the  physicians,  a s e r i e s of  particular  read  care  c o u n s e l l o r s was  understand  collected  groups of p a t i e n t s . results  primary  study,  procedure.  data  recall  this  enough  truly  p a t i e n t s were t h r o u g h  r e l a t e d t o advanced  Given  missing  the  and  Age-  impart  them t o make a  purpose of  genetic  informed  prenatal diagnostic  patients  and  Regarding  counselling i s to  to p a t i e n t s to enable  decision.  determining  Counselling Diagnosis  genetic  ability  sample o f women  here.  E f f e c t i v e n e s s of G e n e t i c  Related  the  i n v o l v i n g the  could  suggest  left  not  remember  that  in providing  their  the  specific  genetic  them w i t h  because  the  risk  counselling necessary  78 information On  p a t i e n t s need  t h e o t h e r hand,  had, the to  that  in fact, risk  this  could also  e s t i m a t e s because  presented  explanation patients  after  having  patients  cases  these  since approximately  the e n t r i e s  requesting  they  numbers b l a n k  had, i n f a c t , they left  had n o t been  represented  less  they  d i d not read or understand  Nonetheless,  these told  an 20% o f t h e  patients refrained  in this  blank  a l l entries  that  of the data presented  risk  been t o l d  the event because  The  25% o f t h e  defects  group.  in addition  from  answering them, t h e  r e s e a r c h would be  due t o t h e o b s e r v a t i o n s made  to the fact  that  thus  t h e t o t a l number o f m i s s i n g  f o r any q u e s t i o n r e p r e s e n t s a maximum o f 20% o f t h e  patients  i n each  presentation responsible The will  left  reported that  questionable. far,  group  important  the l a t t e r  i n each  questions validity  3-6 s u p p o r t  e s t i m a t e s and s u b s e q u e n t l y  requesting  In  i n Tables  P a t i e n t s who r e p o r t e d t h a t  risk  p a t i e n t s who  t o have p r e n a t a l d i a g n o s i s .  f o r Down's syndrome and n e u r a l tube  numbers. any  that  t h e y may n o t have been  f o r missing cases  i n each  estimates  suggest  decision.  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 n o t remember  them i n making a d e c i s i o n  results  t o make an i n f o r m e d  group,  this  researcher concludes  o f t h e q u e s t i o n n a i r e s used f o r the occurrence  effectiveness  in this  of missing  study  group,  was n o t  cases.  o f the g e n e t i c c o u n s e l l i n g  be d i s c u s s e d w i t h i n each  that the  process  t a k i n g i n t o account at  79 which  time p a t i e n t s  relation  received  their  genetic  counselling in  t o Q l and Q2, and f r o m whom t h e c o u n s e l l i n g was  received. (i) three told  Risks  associated  groups, a majority their  risk  Nevertheless, received  with  advanced m a t e r n a l age.  o f t h e women s a i d  of having  a baby w i t h  that  n o t a l l o f t h e women who r e p o r t e d  the r i s k s  were a b l e  inability  to r e c a l l a specific  i s provided The  and  t o them i n g e n e t i c  purpose of requesting  with  recognize  the fact  were.  suggesting the  numerical  risk  counselling.  a risk  estimate  t h a t a woman's r i s k  a chromosomal p r o b l e m  Unfortunately, majority thought  this  a t age 30, 40,  own r i s k  30 o r 40.  responded  i f the question  example,  instead of asking  had been p h r a s e d  was  a t age 40, t h e q u e s t i o n  age  40 was g r e a t e r  than,  knowledge c o u l d  since the  t o what  was, and d i d n o t r e s p o n d  Perhaps t h i s  a baby  i n c r e a s e s with age.  o f t h e women i n each g r o u p their  of having  knowledge was n o t d e m o n s t r a t e d  revealed  at  risks  t h e p a t i e n t ' s own age was t o s e e i f t h e women c o u l d a t  least  age  having  t o s t a t e what t h o s e  i n both q u e s t i o n n a i r e s ,  of patients  had been  Down's syndrome.  T h i s was d e m o n s t r a t e d  that  they  In a l l  have  they  to risks at been  differently.  For  p a t i e n t s t o s t a t e what t h e r i s k could  less  have a s k e d  than,  i f the r i s k at  o r t h e same as t h e r i s k  age 30. Looking  a t each group  individually,  the p a t i e n t s  i n AO  80 demonstrated having in  received  their  i n t h e number o f women who  risk  Q 2 ) , and an i n c r e a s e  (47%  that  (N=285) i n Q2).  these p a t i e n t s  t h e community  i n Q l and Q2 t h a t  informed  patients,  14%  this  (N=305) o f t h e p a t i e n t s  regarding  their  risk  between Q l and Q2. the Ql may  number o f p a t i e n t s and Q2. have  The i n c r e a s e  resulted  and  unable  being  reported  reminded  gained their  their risks  the  an  received  diagnostic  learning  Although  t h e AMA  risk in patients  their  r i s k of  the p a t i e n t s '  n u r s e who  them s i g n i n g procedure,  i n performing  to the p a t i e n t s  risk  by c o m p a r i n g  number when c o m p l e t i n g Q l  have  reviewed  the consent  or perhaps  from  the procedure.  i n AP, t h e r e s u l t s a l s o  i n t h e number o f p a t i e n t s  their  point-in-time  was n o t i n d i c a t e d , t h e y may  them and w i t n e s s e d  individuals involved  increase  the exact  knowledge f r o m e i t h e r  Referring  information  time a t Grace H o s p i t a l , or  a t Grace H o s p i t a l .  f o r m t o have a p r e n a t a l  at l e a s t  i n t h e number o f i n f o r m e d  information  with  that  receiving their  from e i t h e r p a t i e n t s  t o remember  source of t h i s  concludes  i n AO had r e c e i v e d  Down's syndrome f o r t h e f i r s t being  i n t h e number o f  p e r c e n t a g e was d e r i v e d  who  counselling  Q l and due t o t h e  o f Down's syndrome a t some This  patients  their  show an i n c r e a s e  researcher  (N=305)  Given the  had r e c e i v e d  p r i o r to completing  findings  reported  (79% (N=304) i n Q l t o 93%  i n t h e number o f i n f o r m e d  (N=239) i n Q l t o 64%  assumption in  an i n c r e a s e  who  reported  (79% (N=52) i n Q l t o 98%  show  having  (N=50) i n Q2) as  well  as an i n c r e a s e  i n t h e number o f i n f o r m e d  (N=41) i n Q l t o 60% (N=50) i n Q 2 ) . this  group r e c e i v e d  risks  and p r e n a t a l  regarding  their  completing  counsellor.  personal  the  physician  risk  from  risks,  gain  been  genetic the s i g n i n g of  a prenatal  e t c . was o n l y  by t h e i r  any  diagnostic given  primary  to  care  the p a t i e n t s  i n AC a l s o  patients  As i n t h e c a s e  received  suggesting  that  having  received  their  any g a i n  (50% (N=26) i n Q l t o 59%  for patients  counselling  both) a m e d i c a l g e n e t i c i s t group o f p a t i e n t s  patients  between Q l and Q2,  they  received  or g e n e t i c  h a s been d e f i n e d  for prenatal  i n AP,  i n knowledge d e m o n s t r a t e d  was due t o t h e c o u n s e l l i n g  indications  reported  show an  (72% (N=36) i n Q l t o 100% (N=34) i n Q2) as w e l l as  i n AC a l s o  patients  having  i n t h e number o f women who  (N=34) i n Q 2 ) .  this  from a  that  may have  nurse witnessed  who were c o u n s e l l e d  t h e number o f i n f o r m e d  (or  received  t h e AMA  a review of t h e i r  results  increase  patients  concludes  i n t h e community.  The  their  between  group of p a t i e n t s  they  age-related  to counselling  history)  researcher  f o r m by a l l p a t i e n t s  patients  the p a t i e n t s i n  regarding  (in addition  or family  shown by t h i s  Although  consent  procedure,  in  diagnosis  t o the c o u n s e l l i n g  the  counselling  Q l and Q2, t h i s  i n knowledge due  their  Since  p a t i e n t s (39%  diagnosis,  had been s e e n p r e v i o u s l y  by t h e s e from  counsellor.  as AMA  plus  i t is likely  by e i t h e r  thus  either Since  complex  that  a medical  these  82 geneticist risk  or a g e n e t i c  associated  counsellor.  w i t h AMA would  have been g r e a t e r  p r e g n a n c y , making h e r o v e r a l l r i s k additional  risk  diagnosis)  greater  (ii)  Risk  related  neural of  for  This  process  given  suggest  that  previously,  risk  screened  for this  uninformed The  t h e common i n d i c a t i o n  t o have p r e n a t a l of having  diagnosis  a baby w i t h a risk  o f NTDs.  Given  i s constant  the  risk  who  f o r NTDs i n a d d i t i o n t o  that  the m a j o r i t y  of the  the r e s u l t s  t h e s e women were n o t aware o f b e i n g  i t s frequency. a risk  estimate  own age was t o s e e i f t h e p a t i e n t s  and  As  t h e samples c o l l e c t e d f r o m p a t i e n t s  purpose of requesting  that  was  anomaly, o r t h e y were aware b u t were  regarding  at their  recognize  perhaps  component  in this  i n each g r o u p had had an a m n i o c e n t e s i s , that  The  counselling for  t o the p a t i e n t s  had an a m n i o c e n t e s i s were t e s t e d  patients  tube d e f e c t s .  and n o t due t o t h e i r  chromosomal a b n o r m a l i t i e s .  and  neural  2 suggest  study  increased  chromosomal p r o b l e m ,  had  p l u s any  (NTDs) was n o t a l w a y s a r o u t i n e  in this  because of t h e i r  in this  indication for prenatal  i s not s u r p r i s i n g since  a l l patients  mentioned  with  i n Figure  the c o u n s e l l i n g  (AMA r i s k  t h e women's  as w e l l .  tube d e f e c t s  study.  to their  associated  r e s u l t s presented  Nonetheless,  the r i s k  a t age 30, 40, could  o f NTDs does n o t i n c r e a s e  f o r women o f a l l a g e s .  o f Down's syndrome, t h i s  w i t h age,  As i n t h e c a s e  knowledge was n o t  with  83 demonstrated s i n c e the m a j o r i t y of p a t i e n t s i n each group only responded to t h e i r own a s s o c i a t e d at age question  30 and  r i s k of NTDs, and  40 blank.  By d e s i g n i n g  i n the same manner as the q u e s t i o n  syndrome, t h i s q u e s t i o n may  left  the  risk  this  regarding Down's  have only served  to confuse  the  patients. As  i n the p r e v i o u s q u e s t i o n  regarding Down's syndrome,  there were a l s o p a t i e n t s i n each group who s t a t e what t h e i r they had missing  r i s k of NTDs was  received t h i s cases  has  that they had  information.  only 45%  risk  NTDs d u r i n g  i n c r e a s e d to 80%  in Ql.  (N=307) s t a t e d T h i s suggests that  were c o u n s e l l e d by t h e i r  who  s t a t e d that they had  identified,  had  been t o l d t h e i r  i t may  demonstrate an  this  In  received  r i s k of  Ql and  Q2.  of the p a t i e n t s ' gain i n knowledge have been e i t h e r  i n v o l v e d i n performing  p a t i e n t s with  primary  (N=300), which suggests that  the time p e r i o d between completing  Although the source  individuals  suggesting  not been c o u n s e l l e d regarding NTDs.  there were p a t i e n t s i n AO  not  risk  the number of p a t i e n t s who  their  that  management of  of the p a t i e n t s  received their  care p h y s i c i a n had  reported  f o r the p a t i e n t s ' lack of response.  the m a j o r i t y of p a t i e n t s who  Q2,  The  having  been d i s c u s s e d p r e v i o u s l y ,  several explanations In group AO,  after  were not able to  information.  the AMA  was  nurse or  the procedure who  Even though the  i n c r e a s e i n the number of informed  the  provided  results patients in  84 AO  (32% (N=139) i n Q l t o 43% (N=241) i n Q 2 ) , t h e number o f  informed of  patients  the p a t i e n t s With  AC, o n l y  less  than a  i n Q l f o r g r o u p s AP and  that  these  t o 90% i n AP that  risk  patients  t h e y had been t o l d  results  t o those  their  r i s k of  i n Q2, t h e numbers  (N=49) and 97% i n AC  (N=33).  in their  genetic  number o f i n f o r m e d  patients  i n each g r o u p a l s o  counselling  The  increased  from  (N=19) i n Q l t o 32% (N=44) i n Q2 f o r AP and f r o m  in  Q l t o 19% (N=32) i n Q2 f o r AC.  each  represent  much  less  each g r o u p s t a t e d When a s k e d patients  i n these groups,  than a m a j o r i t y  a total that  to r e c a l l  the  as w e l l  (N=14)  overall as i n  of the p a t i e n t s i n  estimate  concludes  o f 80% o r more o f t h e p a t i e n t s i n  t h e y had r e c e i v e d  their  risk,  i n each g r o u p were a b l e and a p p r o x i m a t e l y  g r o u p had no r e c a l l  the  Nevertheless,  7%  group. In summary,  risk  patients  told  process.  5%  numbers o f i n f o r m e d  This  i n g r o u p s AP and AC had been  o f NTDs  AO,  majority  group.  t o the r e s u l t s  stated  Comparing  suggests  to represent  37% (N=51) and 40% (N=35) o f t h e p a t i e n t s ,  increased  their  i n each  reference  respectively, NTDs.  continued  that  majority  at a l l .  the s p e c i f i c  of the p a t i e n t s  only  risk  43% o r l e s s  t o r e p r o d u c e an  this  o f NTDs.  of the informed  30% o f t h e p a t i e n t s  Therefore, risk  their  i n each  researcher  o f NTDs was n o t i m p o r t a n t t o  in this  study.  (iii)  Risks  procedures.  associated  A l l of  experienced  having  the  during  in Ql  a l l three  the  and  Q2,  women i n c l u d e d  either  point-in-time  with p r e n a t a l  the  an  study p e r i o d .  patients  with p r e n a t a l  testing.  Results  that,  first  i n each of  f r o m the  geneticists  and  patients  i n AO  counselling and this  Q2.  The  case  at  previous  miscarriage  missing  a greater  to  the  a b n o r m a l baby.  assessments  and  had by  results in  associated a majority  received  this  medical that  after  90%  not to  of  suggests  their  between c o m p l e t i n g  related  than  some  increase  secondly,  c a s e s was  an  issue  Ql  in  prenatal  r e s p o n s e by  This  testing,  to t h e i r  greater  could  patients recall  of  from c h o o s i n g  (DS  informed  and  regarding  to a procedure  prenatal  repercussions  an  This  AC  at  comparing  information  number o f  more i n f o r m e d due  and  had  the  group.  risk  were c l e a r l y  this  a CVS  risks  provided  a l l questions  received  In c o m p a r i s o n two  i n AP  study  show t h a t  some p o i n t - i n - t i m e  that  i n each  i n Q2  counsellors,  received  problem of  such  procedures patients  and  regarding  counselling  genetic had  In  g r o u p were i n f o r m e d .  a l l , patients  information  or  groups demonstrated  informed  patients  in this  amniocentesis  number o f  the  diagnostic  than  suggest  NTDs), their  their that  at  patients the  chance risk the  of  in  patients of having  time  most c o n c e r n e d  the  risks)  t o have a  procedure.  an  of  were g e n e r a l l y associated  the  about  the  (due  86 Alternatively, provided often  the p a t i e n t s '  them w i t h  risks  source  o f i n f o r m a t i o n may have  a s s o c i a t e d with procedures  o r more a p p r o p r i a t e l y t h a n  risks  more  a s s o c i a t e d with  Down's  syndrome o r NTDs. In a d d i t i o n procedure,  to the risks  the p a t i e n t s i n t h i s  women who a r e p r e g n a n t ) of  Genetic counselling tests  abnormalities a normal, in  this  first  (AMN/CVS) a r e used  h e a l t h y baby. were  counselling  In each  process.  much l o w e r In  that  than  response  component  their  results  that  weeks o f p r e g n a n c y . i n f o r m women  show t h a t  thepatients  group,  of having  as a f t e r  their  a majority ofthe  background  risk  of miscarriage  towards t h e v a r i o u s  t h e women were most a c c e p t i n g o f  i n B.C.  With  and a r o u t i n e  r e s p e c t t o t h e two  techniques, amniocentesis  t h a n CVS by a l l t h r e e g r o u p s this  that  o u t chromosomal  i s a non-invasive technique  most common i n v a s i v e  risk  i tactually i s .  of p r e n a t a l care  Unfortunately,  a background  o f a s s u r i n g them o f h a v i n g  to a general attitude  which  widely accepted  to rule  b e f o r e as w e l l  methods o f p r e n a t a l t e s t i n g , ultrasound,  twelve  as a l l o t h e r  v e r y unaware o f t h e l i m i t a t i o n s test  was  faced with  The r e s u l t s  a prenatal diagnostic  thought  having a  (as w e l l  f o r AMA p a t i e n t s s h o u l d  and a r e n o t c a p a b l e  study  patients  study  are also  miscarriage during their  prenatal  associated with  r e s e a r c h e r cannot  more women p r e f e r  in this  conclude  amniocentesis  was more  from  over  study. these  CVS s i n c e  87 patients  who knew t h a t  have c h o s e n  against  would be d i f f i c u l t CVS  i f her only  AMA.  regardless  minimal  perhaps a testing  revealed. Results  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  Given  the p o t e n t i a l problems a s s o c i a t e d  diagnosis  a g e , i t was i m p o r t a n t  was a d v a n c e d with  to identify  c h i l d - b e a r i n g at  whether  were aware o f t h e s o r t s o f a b n o r m a l i t i e s  prenatal  t e s t can s c r e e n regarding  f o r so t h a t  in this  m a t e r n a l age.  patients  decisions  was  procedures  methods o f p r e n a t a l  t o have p r e n a t a l  later  diagnosis  which  of e l i g i b i l i t y ,  study  a  woman t o have  prenatal  had a s k e d p a t i e n t s  Response Regarding Abnormal The  pregnant  i n d i c a t i o n f o r having  a t t i t u d e towards v a r i o u s  would have been  t o have CVS may  F o r example, due t o age p r i o r i t y , i t  f o r a 35-year-old  t h e y would p r e f e r  The  it.  I f the question  general  t h e y were n o t e l i g i b l e  they c o u l d  or not the that a  make  t h e management o f t h e r e m a i n d e r o f t h e i r  pregnancy. In e a c h that  c h i l d r e n with  retardation, other 30%  group,  problems.  of the p a t i e n t s  syndrome e x p e r i e n c e  In a d d i t i o n  was n o t i n d i c a t e d  h a s been d i s c u s s e d  previously  also  indicated  less  than  to identify  The p a t i e n t s ' i n these  stated  mental  to this,  i n e a c h g r o u p were a b l e  w i t h NTDs e x p e r i e n c e .  information It  Down's  70% o f t h e p a t i e n t s  and a b o u t h a l f o f t h e s e p a t i e n t s  associated  children  approximately  what  source of t h e i r  questions. in this  section  that  88 g r e a t e r than 80%  of the p a t i e n t s i n each group had  having  received their  Taking  a l l of these  p a t i e n t s may having  r i s k of Down's syndrome and  results  a NTD  what t h i s abnormality  NTDs.  i n t o account, t h i s suggests t h a t  have been informed  a baby with  reported  regarding  without  involved.  being On  their  risk  informed  regarding  the other hand, t h i s  could a l s o suggest that p a t i e n t s e i t h e r could not what they were t o l d or they may i n t e n t i o n a l l y disregarded t h e i r r i s k of NTDs was concerns. regarding  In any  have been t o l d  not as important  but  as other  felt  risks  that  and  event, the e f f e c t i v e n e s s of c o u n s e l l i n g  regarding Down's syndrome due  l e s s than the  to i t s lack of  a s s o c i a t i o n with advanced maternal  age.  The  Diagnosis  Emotional Response to P r e n a t a l I t has  remember  the q u e s t i o n because they  n e u r a l tube d e f e c t s appears to be  counselling  of  been well-documented that women  experience  varying l e v e l s of a n x i e t y during t h e i r pregnancy, e s p e c i a l l y i f and  when a p r e n a t a l t e s t  is elected.  t h i s research are no exception purpose of t h i s study, response was not  The  r e s u l t s from  to these c o n c l u s i o n s .  the a n a l y s i s of p a t i e n t s '  r e l a t e d to p r e n a t a l d i a g n o s i s  For  the  emotional  in general,  and  r e l a t e d to a s p e c i f i c d i a g n o s t i c t e s t . F i g u r e s 7 through 9 show that the l e v e l of s t a t e anxiety  and  s u b j e c t i v e s t r e s s decreased  p a t i e n t s i n AO,  i n a l l three groups.  t h i s change i n emotions occurred  For  during  the  the  89 time p e r i o d  immediately  counselling) patients  before  and i m m e d i a t e l y  who p r e f e r r e d writer  to this  test  r e s u l t s ) may have f e l t  within  after their  four  Q2 i m m e d i a t e l y  Nevertheless,  since  there  weeks  i n AO e x p e r i e n c e d  prenatal  t e s t was c o m p l e t e .  This  of anxiety  their  With Ql  level  (44%,  In state also  N=52) and i n AC  anxiety  results.  as s o o n as t h e  i n AC  i n AP  (N=35) c o n t i n u e d  to feel  o f t h e s e p a t i e n t s due  related to their  between  a large proportion (50%,  pregnancy. completing  of the p a t i e n t s  N=36) c o m p l e t e d  both  on t h e same d a y .  addition  asked  the majority of  t o t h e amount o f t i m e e l a p s e d  questionnaires  their  also experienced a  c a n be e x p e c t e d  and Q2 i n t h e s e g r o u p s ,  i n AP  after  a n x i o u s once t h e p r o c e d u r e was c o m p l e t e .  a d d i t i o n a l concerns  respect  their  the p a t i e n t s  34% o f t h e p a t i e n t s  (N=51) and 29% o f t h e p a t i e n t s t o very  receiving  procedure.  a sense o f r e l i e f  although  moderately  than  Q2 i m m e d i a t e l y  In g r o u p s AP and AC, p a t i e n t s i n anxiety,  Those  48 o f t h e 311 p a t i e n t s  the r e s u l t s demonstrate that  patients  to  (before  after their  were o n l y  who d i d n o t c o m p l e t e  decrease  (post-  procedure.  l e s s anxious  who c o m p l e t e d  procedure,  procedure  t o c o m p l e t e Q2 a t home and r e t u r n i t  back  (15%)  their  to asking  patients  to rate  a t the time o f completing  to rate Comparing  their  anxiety  their  l e v e l of  Q2, p a t i e n t s  regarding  the r e s u l t s i n Figures  their  were  test  7-9 t o t h e r e s u l t s  90 in Figure increase  10, t h e p a t i e n t s ' l e v e l o f s t a t e a n x i e t y once a g a i n  approximately anxiety  i n each g r o u p ,  pre-procedure.  who have PND may e x p e r i e n c e where a n x i e t y having stage  of  study,  this  f o r the t e s t  the S t a t e - T r a i t Anxiety Spielberger  the s t a t e - a n x i e t y  to provide  anxiety  at a p a r t i c u l a r  t o respond  analysis)  reliable,  o f t i m e and e x t e n t  of patients  included  i n Q2.  measure s t a t e a n x i e t y changes The  i n anxiety results  groups  Spielberger's  from  revealed  i n 1966.  a t one s p e c i f i c a period  a n a l y s i s was  The p a t i e n t s were (A-State procedure.  intermediate  that  In  information inventory  a n a l y s i s served time  rather  was  to  than  of time.  the A-State  suggests  developed  measures o f s t a t e  of other  this  anxiety  For the purpose  had t h e i r  inventory scores.  i n t e r p r e t a t i o n of A-State  a l . , 1970), t h i s  (STAI)  i n Q l and Q2, t h e A - S t a t e  over  involves  t o measure s t a t e  statements  Therefore,  pregnancy  results.  self-report  having  t h a t women  and t h e s e c o n d  (A-State)  t o 20 d i f f e r e n t  in their  their  stage  moment-in-time.  i n Q2, t h u s a f t e r  interest  requested  et  during  Inventory  and a s s o c i a t e s  applied  three  suggests  the f i r s t  a l t e r n a t i v e a p p r o a c h used  by C D .  only  This  two s t a g e s  may be i n d u c e d :  involves waiting  involved  the  as were s e e n  the p r e n a t a l d i a g n o s t i c procedure,  The  asked  demonstrating  t h e same d i s t r i b u t i o n s  experienced  appears t o  show t h a t a l l According  scores  to  (Spielberger  a l l of the p a t i e n t s  91 experienced moderate l e v e l s of t e n s i o n and apprehensiveness. T h e r e f o r e , even though the three groups of women d i f f e r e d with r e s p e c t t o t h e i r  i n d i c a t i o n s f o r PND and who p r o v i d e d  them with g e n e t i c c o u n s e l l i n g , the m a j o r i t y of women i n each group experienced approximately  the same a n x i e t y p o s t -  procedure. A D e s c r i p t i v e Comparison Between the Complete Data S e t and an Incomplete  Data Set  A d e s c r i p t i v e comparison study group incomplete determine  was made between the complete  ( p a t i e n t s who completed study group  both Q l and Q2) and the  ( p a t i e n t s who completed  Q l only) t o  whether or not there were any i n d i c a t i o n s w i t h i n  the incomplete study group that would have p r e d i c t e d t h e i r e x c l u s i o n from t h i s study. d i f f e r e n c e s observed,  Given that there were no apparent  t h i s suggests that the p a t i e n t s  comprising the incomplete  study group 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 and were excluded from t h i s study by chance alone. L i m i t a t i o n s of the C u r r e n t There  Study  are s e v e r a l l i m i t a t i o n s which 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 The method used  study.  i n t h i s study t o assess 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 i n three groups.of  women i n v o l v e d 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 ; the f i r s t was t o be given p r i o r t o  92 counselling, (after  and t h e s e c o n d  having a prenatal  responsibility for  AMA  regarding  t o be g i v e n  test).  Due t o t h e d i v i s i o n  the p r o v i s i o n  of genetic  patients,  i t was n o t p o s s i b l e  in this  s t u d y b e f o r e and a f t e r  patients  post-counselling  In a d d i t i o n  of  counselling  t o assess a l l o f the receiving  genetic  counselling.  to this,  elapsed  between c o m p l e t i n g Q l and Q2 v a r i e d  their  t h e amount o f t i m e within  each  group. For completed patients their groups  example,  i n AO  procedure  (15%) c o m p l e t e d  and b e f o r e r e c e i v i n g  Q2 i n a v a r i e t y o f ways: before their  procedure  (N=36));  counselling completed  procedure  (a) p a t i e n t s  completed  their  (N=36));  counselling  results.  i n AP  weeks  Ql  Ql  procedure after  (N=52) and 11% i n  Q l and r e c e i v e d  their  p r o c e d u r e and  (8% o f t h e p a t i e n t s  (c) p a t i e n t s  and c o m p l e t e d  i n AP  completed  on t h e same d a y , had  up t o two weeks l a t e r ,  Q l and  completed  completed  four  In  (N=36)),  and had t h e i r  Q2 w i t h i n  Q2 up t o two weeks l a t e r  received  test  after  a l s o completed  on t h e same day b u t had t h e i r  (N=52) and i n 11% i n AC and  their  weeks  i n these groups  (25% o f t h e p a t i e n t s  (b) p a t i e n t s  four  (N=52), 50% i n AC  counselling  t h e same day b u t c o m p l e t e d  their AC  (44% i n AP  the remaining p a t i e n t s  immediately on  Q2 w i t h i n  AP and AC, most o f t h e p a t i e n t s  although  i n AO (85%)  Q l and Q2 on t h e same d a y , t h e r e m a i n i n g 48 o f 311  Q2 on t h e same day  and  a l t h o u g h 264 o f 311 p a t i e n t s  Ql  their  Q2 w i t h i n  four  93 weeks a f t e r  their  and  14%  i n AC  Ql,  had  their  after 14%  their  i n AC The  Ql  and  procedure  (N=36)); and procedure,  procedure  and  e x i s t e n c e of should  be  variable  regarding factual  counselling, involvement Other  as w e l l  as  limitations  procedure  of  (N=52)  a limitation the  of  and  of  this  patients' through  anxiety regarding  study  (AMN/CVS), and  their  as  a procedure  amniocentesis  study  had  in a previous because  their  i t was  present  never  because  have known what  would have been  not  to  the c h o i c e of p r o c e d u r e  t h e p a t i e n t s who further  along  have  experienced  r e g a r d i n g the p a t i e n t s '  example,  their  pregnancy  had  to t h i s ,  was  experienced  t h e s e p a t i e n t s may  t h e y may  not  a prenatal  t h e p a t i e n t s who  a role For  having  which p r o c e d u r e  procedure  Nonetheless,  In a d d i t i o n  group.  i n v o l v e whether o r  P a t i e n t s who  a s s o c i a t e d with  relevant.  have a l s o p l a y e d i n each  as  experience with  pregnancy.  risks  been as a n x i o u s  expect.  weeks  between t h e c o m p l e t i o n  state  this  a prenatal diagnostic  knowledge o f  having  w i t h i n two  with p r e n a t a l d i a g n o s i s .  in this  was  completed  information received  p r e g n a n c y were i n c l u d e d i n t h i s  that  Q2  to influence  their  the p a t i e n t ' s f i r s t  diagnostic  time  acknowledged  retention  having  completed  (N=52)  (N=36)).  Q2  elected  (d) p a t i e n t s  (13% o f t h e p a t i e n t s i n AP  to i t s p o t e n t i a l  was  t h e p a t i e n t s i n AP  finally,  s t u d y due  it  (10% of  state  had  had  in their  may anxiety an  94 pregnancy have had  than  those  more t i m e  who  movement o r  1988).  T h i s attachment of  p a t i e n t s who faced  with  experience  having an  had  had  are  the  their  On  risk  of  this  effect For  asked  the  due  the  the  the nature  of  the  to'  study. informed also  patients after  the p o s s i b i l i t y  example, p a t i e n t s who  of  may  have been more i n f o r m e d  i n Q2  i s s u e o f m i s s i n g d a t a was  been  because  they  genetic  t h e y d i d not  have done b e t t e r  The  of  two  not have  p r o v i d i n g them w i t h  taken  i n Q2  because  Ql.  several questions  in this  the q u e s t i o n s t h a t  asked  cause  Cox,  Therefore, previous  the answers t o the q u e s t i o n s t h a t  with  than  have t h e p o t e n t i a l  had  r a t e may  of procedure  to the a p p l i c a t i o n  individual(s)  &  H o s p i t a l would have been  t h e r e was  T h e r e f o r e , p a t i e n t s may  associated  (Spencer  anxiety increases  amniocentesis.  that  would, t h e r e f o r e ,  t h e o t h e r hand,  at Grace  procedure,  i n Q l may  counselling  they  an  variables  questionnaires.  know.  ultrasound  have c a u s e d  higher  results  intervention  had  a CVS  and  f e t a l - m a t e r n a l bonding  r e f e r e n c e t o t h e number o f  had  informed  may  a CVS,  w i t h p r e n a t a l d i a g n o s i s and  method used  With  had  by  patients.  a slightly  p a t i e n t s who  influence  vision  t h e CVS had  had  to experience  through  above t h a t  had  having  an  a problem  survey,  a common c o n c e r n especially  p a t i e n t s to r e c a l l  with their  a b n o r m a l baby.  A poor  i n the a n a l y s i s  because  for  respect to risks response i t can  place  95 doubt on the  i n t e r p r e t a t i o n of r e s u l t s f o r v a r i o u s  Nevertheless,  given that the p a t i e n t s i n each group responded  p o o r l y to only c e r t a i n questions suggests that i t was  i n both Ql and  to ask  f o r the  p a t i e n t s , e i t h e r before  i n meeting with a l l  a f t e r t h e i r procedure, that may  on the p a t i e n t s i n each group.  F i r s t of a l l ,  have  unfriendly.  appointments were l a t e r on o f t e n kept w a i t i n g p r i o r  placed  the p a t i e n t s '  composure ranged from very p l e a s a n t , calm, and  time, due  this  impact i n which p r e n a t a l d i a g n o s i s  nervous, and  the  information.  c o l l e c t e d o b s e r v a t i o n a l data  very upset,  that caused  t h e i r g e n e t i c c o u n s e l l i n g appointment  or immediately before and  c o n t r i b u t e d to the  this  not the f a i l u r e of  Through t h i s w r i t e r ' s experience  researcher  Q2,  the i n f o r m a t i o n s p e c i f i c a l l y  the p a t i e n t s to respond p o o r l y and questionnaire  questions.  cooperative  to  Those p a t i e n t s whose  i n the morning or afternoon  to procedure f o r long p e r i o d s  to p r e v i o u s p a t i e n t s taking longer  were of  than expected or  emergencies which took precedence over p r e n a t a l d i a g n o s t i c procedures. experienced  Finally,  those p a t i e n t s who  great d i s c o m f o r t  CVS  often  p r i o r to procedure because of  the n e c e s s i t y f o r a f u l l bladder these o b s e r v a t i o n s  had  at procedure.  Since a l l of  were found e q u a l l y among p a t i e n t s i n a l l  three groups, the 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 ' s t a t e anxiety or t h e i r a b i l i t y cons i s t e n t .  to r e c a l l  information  was  96  Conclusion It  has been  assessment  t h r o u g h m e a s u r i n g how  regarding  counselling present  the i n f o r m a t i o n  process.  findings risk  effective  genetic  requested  necessary not  o f them  risk  t o have p r e n a t a l  may  the  in quantitative  knowledge  t h a n how  findings  related  used  information to  or  Alternatively, this but incomprehensible  terms.  In t h e e v e n t presented  presented  t o them,  to  where t o them i n their  would n o t have been a c k n o w l e d g e d in this  study.  to risk perception,  "wanting" p r e n a t a l  diagnosis,  process  imply  the p a t i e n t s '  present  a t a l l , be  that  the  d e c i s i o n whether or  the i n f o r m a t i o n  and u n d e r s t a n d i n g  by t h e q u e s t i o n n a i r e s  their  relevant  i t was  an  after  knowledge p e r t a i n i n g  diagnosis.  have been  regarding  constitutes  n o t have been i m p o r t a n t  may  a manner o t h e r  patients  process.  i n making  had u n d e r s t o o d  in their  o f a s s e s s m e n t , the  informing  that  information  patients  t o them  t h e y had been t o l d  suggests  c a n be  patients  of r e c a l l of information  that  estimates  an  counselling  i s n o t a l w a y s what  lack  for patients  patient  presented  counselling  have s t a t e d  that  informed  t h i s method  that  estimates  The c o n s i s t e n t  actual  Using  suggest  numerical  patients  i n the l i t e r a t u r e  of the e f f e c t i v e n e s s of g e n e t i c  accomplished are  reviewed  reasons  and a n x i e t y knowing  i t b i g or s m a l l ,  Additional  was  f o r " h a v i n g " and  felt that  what  throughout some r i s k  was  the  was  important  for  most p a t i e n t s  with  the  in this  study.  These o b s e r v a t i o n s  e a r l y i n v e s t i g a t i o n s made by  (1979), d e m o n s t r a t i n g  Lippman-Hand  patients' binary  response  coincide  and  to  Fraser  risk  information. Despite  the  confirmation  of  levels  of  majority  of p a t i e n t s  always based  although  their that  the  a l l of  risks  the  by  process  does not  p a t i e n t s with  ability  to r e c a l l  primary  medical  to the  with  In c o n c l u s i o n ,  diagnosis  factual  care  less  they  had  after  than  a  post-counselling, satisfied  received.  information  patients  the  the  and  e f f e c t i v e n e s s of  regarding appear  t o be  factual  information.  of Medical  Genetics  presenting  the  may  factual  within  genetic  risks  the  the  diagnosis, suggests  information.  and who  prenatal provided  patients'  Counselling community  counsellors  informed  genetic  r e l a t e d to those  c o u n s e l l i n g or  physicians  such the  age-related  genetic  g e n e t i c i s t s and  prenatal  or w i t h o u t  i s not  Therefore,  counselling received  with  and  i n the  efforts by Department  r e q u i r e a l t e r n a t i v e methods i n information  relevant  with  risk  i n each g r o u p were AMA  the  This  (numerical  them i n c o u n s e l l i n g .  n e e d s were met  counselling  informed  a s s o c i a t e d with  satisfaction their  and  data  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  provided  not  regarding  the on  missing  i n e a c h g r o u p were v e r y  counselling that  that  estimates)  recall,  a l l p a t i e n t s being  genetic  suggests  no  receiving information,  majority  the  of  to  AMA  98 counselling. be  presented  quantitative their  risks  F o r example,  the numerical  t o women i n a q u a l i t a t i v e  risk  estimates  may  r a t h e r than a  manner s o t h a t women.might be a b l e t o a p p r e c i a t e more a p p r o p r i a t e l y .  99 References Abramovsky, I . , Godmilow, L., H i r s c h h o r n , L., & S m i t h , H., Jr. (1980). 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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 r o v i d e d i n g e n e t i c counselling. A m e r i c a n J o u r n a l o f Human G e n e t i c s , _39, 264 .  253-  tog  APPENDIX A (i)  Questionnaire  1  (ii)  Questionnaire  2  10 8^. PRENATAL DIAGNOSIS COUNSELLING INFORMATION SURVEY DEPARTMENT OF MEDICAL GENETICS, UNIVERSITY HOSPITAL DEPARTMENT OF FAMILY PRACTICE, GRACE HOSPITAL  P r i n c i p a l Investigator:  Desmond Dwyer, M.D., & Barbara M c G i l l i v r a y , 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 t o make informed decision concerning prenatal t e s t i n g . Please ensure that you have answered a l l questions as accurately as possible. I f 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 t h i s should take you approximately 15 minutes. Completion of the questionnaire implies that you have consented to p a r t i c i p a t e i n the study. You have the r i g h t to refuse to p a r t i c i p a t e or withdraw from the study at anytime without r i s k of jeopardizing further treatment or medical care. For our reference only, we need i d e n t i f i c a t i o n 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 r e c a l l but that do not i d e n t i f y 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 d i d i t take you to get pregnant t h i s time?  4.  Less than 1 year  2 to 5 years  1 t o 2 years  Greater than 5 years  Did you plan t h i s pregnancy?  Yes  No  109 5.  What i s your ethnic background? Caucasian  East Indian  Chinese  Other  What i s your r e l i g i o u s a f f i l i a t i o n ? Protestant  Roman Catholic  Buddhist  Sikh  Hindu  Jewish  Islam  Fundamentalist  Other  Nil  What l e v e l 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 i n 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 i n a high r i s k age group. You wish to hear more about your r i s k s 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. s p e c i f i c r i s k s 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 i n making a decision to have prenatal diagnosis? Please number i n order the following sources from: (1) the most h e l p f u l to, (5) the least h e l p f u l . I f 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) -  12.  Other sources  (please specify)  a) Have you been t o l d your r i s k s of having a baby with Down Syndrome? No Yes.  I f yes, what i s the approximate r i s k (for example only, 1/2 or 1/10,000). at age 30 at age 40 at your age  b) Do you f e e l that your r i s k i s high or low?  c) How confident are you i n your responses to t h i s question? c i r c l e one. very confident  moderately confident  1  2  pretty sure 3  Please  not at a l l confident 4  Ill  13.  a) Have you been t o l d your r i s k s of having a baby with a neural tube defect (eg. spina b i f i d a ) ? No Yes.  I f yes, what i s the approximate risk? at age 30 at age 40 at your age  b) Do you f e e l that your r i s k i s high or low?  c) How confident are you i n your responses to t h i s question? Please c i r c l e one. very confident  14.  moderately confident  pretty sure  not at a l l 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?  15.  What would be the most s i g n i f i c a n t 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 r i s k of having a miscarriage i n the f i r s t 12 weeks of pregnancy i f you have no prenatal t e s t . 1/2  1/5  1/50  1/500  1/1000  no r i s k  1/250 don't know  112  17.  Please c i r c l e what you think i s the r i s k of having a miscarriage from the following t e s t s . a) Amniocentesis (needle sampling of the f l u i d surrounding the baby i n the womb) 1/5  1/50  1/100  1/500  1/1000  no r i s k  1/200 don't know  b) C.V.S. (chorionic v i l l u s sampling, i n s e r t i o n of a tube through the opening i n the womb to sample the baby's placenta) 1/5  1/50  1/100  1/500  1/1000  no r i s k  1/200 don't know  c) Ultrasound (sonogram, sound wave test)  18.  1/5  1/50  1/100  1/500  1/1000  no r i s k  1/200 don't know  At the present, would you choose t o have the following tests? Please check which response best describes how you f e e l about each t e s t . no  possibly  probably  yes  don't know much about i t  Amniocentesis C.V.S. Ultrasound  19.  I f there are certain t e s t s 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 i n order the reasons as: (1) most important, (2) second most important, (3) etc. I f any of these reasons do not apply to you, please leave them blank. To have the option of terminating an abnormal pregnancy. To r e l i e v e my anxiety by knowing that the baby's chromosomes are normal. To prepare for an abnormal c h i l d . Other (please specify)  113 21.  a) How anxious are you f e e l i n g right now? Not at a l l  Somewhat  1  Moderately so  2  3  Very much so 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  stiff  COMMENTS  Thank you very much f o r your time and cooperation.  114 GENETIC COUNSELLING INFORMATION SURVEY DEPARTMENT OF MEDICAL GENETICS, UNIVERSITY HOSPITAL DEPARTMENT OF FAMILY PRACTICE, GRACE HOSPITAL  P r i n c i p a l Investigator; Desmond Dwyer, M.D.,  & Barbara McGillivray, M.D.  QUESTIONNAIRE #2  Now that the prenatal t e s t i s completed, a post-procedure questionnaire i s designed t o allow you to r e f l e c t over your experience here. Please ensure that you have answered a l l questions as accurately as possible. I f 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 t h i s should take you approximately 10 minutes. Completion of the questionnaire implies that you have consented to p a r t i c i p a t e i n the study. You have the right to refuse to p a r t i c i p a t e or withdraw from the study at anytime without r i s k of jeopardizing further treatment or medical care. For our reference only, we need i d e n t i f i c a t i o n 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 r e c a l l but that do not i d e n t i f y 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 t e s t procedure? '  115  Read each statement and then c i r c l e the appropriate statement i n d i c a t i n g how you feel right now. There are no wrong answers. Please give a response to every one.  E-» O  I f e e l calm  1  2  3  4  I f e e l secure  1  2  3  4  I am tense  1  2  3  4  I am r e g r e t f u l  1  2  3  4  I f e e l at ease  1  2  3  4  I f e e l upset  1  2  3  4  I am presently worrying over possible misfortunes  1  2  3  4  I f e e l rested  1  2  3  4  I f e e l anxious  1  2  3  4  I f e e l comfortable  1  2  3  4  I f e e l self-confident  1  2  3  4  I f e e l nervous  1  2  3  4  I am j i t t e r y  1  2  3  4  I f e e l "high strung"  1  2  3  4  I am relaxed  1  2  3  4  I f e e l content  1  2  3  4  I am worried  1  2  3  4  I f e e l over-excited and " r a t t l e d "  1  2  3  4  I feel joyful  1  2  3  4  I f e e l pleasant  1  2  3  4  116  3.  a) Have you been t o l d your r i s k s of having a baby with Down syndrome? No Yes  I f yes, what i s the approximate r i s k (for example only, 1/2 or 1/10,000). at age 30 at age 40 at your age  b) Do you f e e l that your r i s k i s high or low?  c) How confident are you i n your responses to t h i s question? Please c i r c l e one. very confident  4.  moderately confident  pretty sure  not at a l l confident  a) Have you been t o l d your r i s k s of having a baby with a neural tube defect (eg. spina b i f i d a ) ? No Yes  I f yes, what i s the approximate risk? at age 30 at age 40 at your age  b) Do you f e e l that your r i s k i s high or low?  c) How confident are you i n your responses to t h i s question? Please c i r c l e one. very ' confident  moderately confident  pretty sure  not at a l l 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 s i g n i f i c a n t 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 r i s k of having a miscarriage i n the f i r s t 12 weeks of pregnancy i f you have no prenatal t e s t . 1/2 1/500  1/5  1/50  1/1000  no r i s k  1/250 don't know  Please c i r c l e what you think i s the r i s k of having a miscarriage from the following t e s t s . a) Amniocentesis (needle sampling of the f l u i d surrounding the baby i n the womb) 1/5  1/50  1/100  1/500  1/1000  no r i s k  1/200 don't know  b) C.V.S. (chorionic v i l l u s sampling, insertion of a tube through the opening i n the womb to sample the baby's placenta) 1/5  1/50  1/100  1/500  1/1000  no r i s k  1/200 don't know  c) Ultrasound (sonogram, sound wave test) 1/5  1/50  1/100  1/500  1/1000  no r i s k  1/200 don't know  118  9.  Please c i r c l e one only. a) How anxious are you f e e l i n g right now? Not at a l l 1  Somewhat  Moderately so  2  Very much  3  4  b) How anxious are you regarding the t e s t results? Not at a l l 1  Somewhat  Moderately so  2  Wonderful Steady Comfortable Fine Indifferent Didn't bother me Timid Unsteady Unsafe Nervous Worried Frightened Panicky Scared s t i f f  3  Very much 4  119  11. In the event of a new pregnancy, would you choose to have the following tests? Please check which response best describes how you f e e l about each t e s t . no  possibly  probably  yes  don't know much about i t  Amniocentesis C.V.S. Ultrasound  12.  I f there are c e r t a i n tests that you would not choose to have, please indicate which ones and explain why you would not have them.  13.  How s a t i s f i e d are you with the o v e r a l l counselling you have received? Please c i r c l e one. Very satisfied  Quite disappointed  COMMENTS  Thank you very much for your time and cooperation i n f i l l i n g out t h i s questionnaire. Your thoughts and suggestions are much appreciated.  \2o  APPENDIX B (i)  Risk  o f Down's  Syndrome  (ii)  Risk  of Neural  Tube  Defects  120^ CATEGORIES FOR EVALUATING PATIENT RECALL FOR THE RISK OF DOWN'S SYNDROME  AGE  RISK ESTIMATE  0  INFORMED  SOMEWHAT 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  ° = d a t a d e r i v e d from B.C. d a t a f o r Down's syndrome and Hook, E.B. (1981), O b s t e t r i c s & Gynecology, 58, 282-285.  121 CATEGORIES FOR EVALUATING PATIENT RECALL FOR THE RISK OF NEURAL TUBE DEFECTS  AGE  RISK ESTIMATE  All Ages  1/700  0  INFORMED  + 1/100 (1/600-1/800)  SOMEWHAT INFORMED  + 1/200 (1/500-1/900)  UNINFORMED  > + 1/200  ° = d a t a d e r i v e d from McBride, M.L., (1979). S i b r i s k s o f anencephaly and s p i n a b i f i d a i n B r i t i s h Columbia. American J o u r n a l o f M e d i c a l G e n e t i c s , 3, 377-387.  

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