Benn Peter, Chapman Audrey R, Erickson Kristine, Defrancesco Mark S, Wilkins-Haug Louise, Egan James F X, Schulkin Jay
Department of Genetics and Developmental Biology, University of Connecticut Health Center, Farmington, CT, USA.
Prenat Diagn. 2014 Feb;34(2):145-52. doi: 10.1002/pd.4272. Epub 2013 Dec 16.
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).
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.
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.
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.
本研究的目的是评估美国妇产科医师学会会员对扩展携带者检测（对100多种严重程度各异的遗传疾病进行分子检测）和无创产前检测（NIPT）的看法。
2012年3月至8月进行了一项调查，评估检测的当前使用情况、遗传咨询的提供情况、应识别的疾病类型、对未来使用的偏好、伦理方面以及对监管监督的看法。
15%的受访者会向所有患者提供扩展携带者检测，52.1%会根据患者要求提供。大多数人（67.3%）赞成仅对已知具有重要意义的突变进行检测。在本研究中，79.1%的人支持将NIPT用作所有孕妇唐氏综合征的筛查方法，47.9%的人将NIPT视为侵入性检测的完全替代方法。大多数人支持将其扩展到其他非整倍体（97.5%）和严重早发性孟德尔疾病（90.4%），但不支持用于成人发病疾病（29.8%）或非医学性别鉴定（15.7%）。大多数人（73.2%）认为NIPT会增加轻症疾病状态下的妊娠终止率。受访者赞成专业协会在提供监管监督方面发挥作用。
新基因技术的快速纳入可能受到遗传咨询的可及性、对纳入临床轻症疾病的担忧、意义不明的结果以及成本的限制。
