Buchanan Amanda, Sachs Amy, Toler Tomi, Tsipis Judith
Brandeis University, Genetic Counseling Program, Waltham, MA, USA; Tufts Medical Center, Division of Maternal-Fetal Medicine, Boston, MA, USA.
Prenat Diagn. 2014 Sep;34(9):850-7. doi: 10.1002/pd.4382. Epub 2014 Apr 27.
Non-invasive prenatal testing (NIPT) for select fetal trisomies became clinically available in 2011. When it was introduced, there were no recommendations from the major governing bodies in prenatal genetics regarding its incorporation.
We sought to determine how genetic counselors have incorporated NIPT into clinical practice and how NIPT has changed the informed consent process.
We distributed an anonymous, online survey to National Society of Genetic Counselors (NSGC) members in October 2012.
There were 181 respondents who indicated they incorporated NIPT into their practice with the majority (94.1%) offering it to patients with high risk pregnancies. Of the respondents, 45.1% indicated that there should be a separate informed consent form for NIPT. Respondents indicated that a discussion about NIPT with a patient should highlight that it is a screening test, the detection rate is superior to that of maternal serum screening, it screens for specific conditions, and a positive NIPT result should be confirmed with a diagnostic test.
Following data collection, the American Congress of Obstetricians and Gynecologists, the American College of Medical Genetics, and NSGC released practice guidelines surrounding NIPT. Our results demonstrate that most genetic counselors have been offering NIPT consistent with these guidelines.
针对特定胎儿三体综合征的无创产前检测（NIPT）于2011年开始应用于临床。在其引入时，产前遗传学领域的主要管理机构未就其纳入提出建议。
我们试图确定遗传咨询师如何将NIPT纳入临床实践，以及NIPT如何改变知情同意过程。
2012年10月，我们向美国国家遗传咨询师协会（NSGC）成员发放了一份匿名在线调查问卷。
有181名受访者表示他们将NIPT纳入了实践，其中大多数（94.1%）将其提供给高危妊娠患者。在受访者中，45.1%表示NIPT应该有单独的知情同意书。受访者表示，与患者讨论NIPT时应强调这是一项筛查测试，其检测率优于母体血清筛查，它能筛查特定疾病，并且NIPT阳性结果应通过诊断测试进行确认。
在收集数据后，美国妇产科医师大会、美国医学遗传学学院和NSGC发布了关于NIPT的实践指南。我们的结果表明，大多数遗传咨询师一直按照这些指南提供NIPT。
