Genetic counselling and ethical issues with chromosome microarray analysis in prenatal testing

Prenat Diagn. 2012 Apr;32(4):389-95. doi: 10.1002/pd.3849.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Choice Behavior
  • Chromosome Aberrations
  • Chromosome Disorders / diagnosis*
  • Chromosome Disorders / genetics
  • DNA Copy Number Variations
  • Female
  • Genetic Counseling / ethics
  • Genetic Counseling / methods*
  • Genetic Counseling / psychology
  • Humans
  • Molecular Diagnostic Techniques
  • Moral Obligations
  • Oligonucleotide Array Sequence Analysis / ethics
  • Oligonucleotide Array Sequence Analysis / methods*
  • Patient Preference / psychology
  • Patient Rights
  • Physicians / ethics
  • Pregnancy
  • Prenatal Diagnosis*
  • Risk Assessment
  • Uncertainty