Obstetricians and gynecologists' practice and opinions of expanded carrier testing and noninvasive prenatal testing

Prenat Diagn. 2014 Feb;34(2):145-52. doi: 10.1002/pd.4272. Epub 2013 Dec 16.


Objective: The objective of this study is to assess the opinions of Fellows of the American College of Obstetricians and Gynecologists on expanded carrier testing (molecular detection of >100 genetic diseases of variable severity) and noninvasive prenatal testing (NIPT).

Methods: A survey conducted between March and August 2012, assessed current use of testing, provision of genetic counseling, types of disorders that should be identified, preferences for future use, ethical aspects, and views on regulatory oversight.

Results: Expanded carrier testing was offered to all patients by 15% of the responders and 52.1% upon patient request. Most (67.3%) favored testing only for mutations of known significance. In this study, 79.1% supported the use of NIPT as a screen for Down syndrome for all women with 47.9% viewing NIPT as a complete substitution for invasive testing. Most supported expansion to other aneuploidies (97.5%) and severe early-onset Mendelian disorders (90.4%) but not for adult-onset disorders (29.8%) or nonmedical sex identification (15.7%). A majority (73.2%) believed that NIPT would increase pregnancy terminations for mild disease states. Respondents favored a role for professional societies in providing regulatory oversight.

Conclusion: Rapid incorporation of new genetic technologies may be limited by the availability of genetic counseling, concerns regarding inclusion of clinically mild disorders, results of unknown significance, and costs.

MeSH terms

  • Attitude of Health Personnel*
  • Female
  • Genetic Carrier Screening*
  • Genetic Testing*
  • Gynecology*
  • Humans
  • Male
  • Obstetrics*
  • Practice Patterns, Physicians'*
  • Pregnancy
  • Prenatal Diagnosis*
  • Surveys and Questionnaires