Document Detail

Genetic counselling and ethical issues with chromosome microarray analysis in prenatal testing.
MedLine Citation:
PMID:  22467169     Owner:  NLM     Status:  In-Data-Review    
Molecular karyotyping using chromosome microarray analysis (CMA) detects more pathogenic chromosomal anomalies than classical karyotyping, making CMA likely to become a first tier test for prenatal diagnosis. Detecting copy number variants of uncertain clinical significance raises ethical considerations. We consider the risk of harm to a woman or her fetus following the detection of a copy number variant of uncertain significance, whether it is ethically justifiable to withhold any test result information from a woman, what constitutes an 'informed choice' when women are offered CMA in pregnancy and whether clinicians are morally responsible for 'unnecessary' termination of pregnancy. Although we are cognisant of the distress associated with uncertain prenatal results, we argue in favour of the autonomy of women and their right to information from genome-wide CMA in order to make informed choices about their pregnancies. We propose that information material to a woman's decision-making process, including uncertain information, should not be withheld, and that it would be paternalistic for clinicians to try to take responsibility for women's decisions to terminate pregnancies. Non-directive pre-test and post-test genetic counselling is central to the delivery of these ethical objectives. © 2012 John Wiley & Sons, Ltd.
George McGillivray; Jill A Rosenfeld; R J McKinlay Gardner; Lynn H Gillam
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Prenatal diagnosis     Volume:  32     ISSN:  1097-0223     ISO Abbreviation:  Prenat. Diagn.     Publication Date:  2012 Apr 
Date Detail:
Created Date:  2012-04-02     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8106540     Medline TA:  Prenat Diagn     Country:  England    
Other Details:
Languages:  eng     Pagination:  389-95     Citation Subset:  IM    
Copyright Information:
© 2012 John Wiley & Sons, Ltd.
Royal Women's Hospital, Melbourne, Victoria, Australia; Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, Victoria, Australia; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.
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