Prenat Diagn. 2013 Nov 13. doi: 10.1002/pd.4272. [Epub ahead of print]
Obstetricians' and gynecologists' practice and opinions of expanded carrier testing and non-invasive prenatal testing.
Source
Department of Genetics and Developmental Biology, University of Connecticut Health Center, Farmington, CT.
Abstract
OBJECTIVE:
Assess opinions of Fellows of the American College of Obstetricians and Gynecologists (ACOG) on expanded carrier testing (molecular detection of > 100 genetic diseases of variable severity) and non-invasive prenatal testing (NIPT).
METHODS:
A survey conducted in 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. 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 non-medical sex identification (15.7%). A majority (73.2%) believed NIPT would increase pregnancy terminations for mild disease states. Respondants 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.
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