Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics
Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics
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DOI：
10.1038/gim.2016.97
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发表时间：
2016-10-01
影响因子：
8.8
通讯作者：
Watson, Michael S.
中科院分区：
文献类型：
--
作者：
Gregg, Anthony R.;Skotko, Brian G.;Watson, Michael S.
自2013年美国医学遗传学和基因组学学院（ACMG）发表声明以来，使用无细胞DNA（NIPS）的无创产前筛查已迅速融入产前护理。新的证据有力地表明，NIPS可以取代传统的筛查帕托，爱德华兹和唐氏综合征的母亲年龄谱，连续的胎龄开始于9-10周，并为患者谁是不显着肥胖。本声明提出了一个新的NIPS框架，该框架得到了验证和临床实用性研究信息的支持。NIPS的测试前咨询仍然至关重要;然而，它需要超越Patau，Edwards和Down综合征的讨论。使用NIPS包括性染色体非整倍性筛查和筛选选定的拷贝数变异体（CNVs）正在变得越来越普遍，因为没有其他筛选选项来识别这些条件。提供者应该更全面地了解患者的偏好，并能够在产前筛查范围内了解NIPS的当前缺点。鼓励实验室通过提供有意义的筛查报告并参与教育来满足提供者及其患者的需求。在医疗保健提供者的指导下，患者应该能够对目前使用NIPS以及阳性、阴性或无呼叫结果的后果做出明智的决定。
Noninvasive prenatal screening using cell-free DNA (NIPS) has been rapidly integrated into prenatal care since the initial American College of Medical Genetics and Genomics (ACMG) statement in 2013. New evidence strongly suggests that NIPS can replace conventional screening for Patau, Edwards, and Down syndromes across the maternal age spectrum, for a continuum of gestational age beginning at 9-10 weeks, and for patients who are not significantly obese. This statement sets forth a new framework for NIPS that is supported by information from validation and clinical utility studies. Pretest counseling for NIPS remains crucial; however, it needs to go beyond discussions of Patau, Edwards, and Down syndromes. The use of NIPS to include sex chromosome aneuploidy screening and screening for selected copy-number variants (CNVs) is becoming commonplace because there are no other screening options to identify these conditions. Providers should have a more thorough understanding of patient preferences and be able to educate about the current drawbacks of NIPS across the prenatal screening spectrum. Laboratories are encouraged to meet the needs of providers and their patients by delivering meaningful screening reports and to engage in education. With health-care-provider guidance, the patient should be able to make an educated decision about the current use of NIPS and the ramifications of a positive, negative, or no-call result.