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

摘要: Objective The objective of this study is to assess the opinions Fellows American College Obstetricians and Gynecologists on expanded carrier testing (molecular detection >100 genetic diseases variable severity) noninvasive prenatal (NIPT). Methods A survey conducted between March August 2012, assessed current use testing, provision counseling, types disorders that should be identified, preferences for future use, ethical aspects, views regulatory oversight. Results Expanded was offered all patients by 15% responders 52.1% upon patient request. Most (67.3%) favored only mutations known significance. In study, 79.1% supported NIPT as a screen Down syndrome women with 47.9% viewing complete substitution invasive testing. expansion other aneuploidies (97.5%) severe early-onset Mendelian (90.4%) but not adult-onset (29.8%) or nonmedical sex identification (15.7%). A majority (73.2%) believed would increase pregnancy terminations mild disease states. Respondents role professional societies in providing oversight. Conclusion Rapid incorporation new technologies may limited availability concerns regarding inclusion clinically disorders, results unknown significance, costs. © 2013 John Wiley & Sons, Ltd.