Non-invasive prenatal testing: a review of international implementation and challenges.
Non-invasive prenatal testing: a review of international implementation and challenges.
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DOI：
10.2147/ijwh.s67124
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发表时间：
2015
期刊：
影响因子：
--
通讯作者：
Chandrasekharan S
中科院分区：
文献类型：
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作者：
Allyse M;Minear MA;Berson E;Sridhar S;Rote M;Hung A;Chandrasekharan S
非侵入性产前基因检测（NIPT）是检测胎儿染色体非整倍性的一个进步，它分析孕妇血液中的无细胞胎儿DNA。自2011年在香港引入临床实践以来，NIPT已迅速在地球仪推广。虽然许多专业协会目前建议将NIPT用作筛查方法，而不是诊断测试，但其高灵敏度（真阳性率）和特异性（真阴性率）使其成为目前使用的血清筛查和侵入性测试的有吸引力的替代方案。专业协会还建议NIPT与遗传咨询相结合，以便家庭能够做出明智的生育选择。如果NIPT得到更广泛的采用，各国将必须实施监管和监督，以确保其符合现有的法律的框架，特别注意在基于性别的堕胎盛行的地区返回胎儿性别信息。尽管在发展中国家采用NIPT还面临其他挑战，包括缺乏医疗保健专业人员和基础设施，但在低资源环境中使用NIPT可能会减少对进行侵入性检测的熟练临床医生的需求。NIPT技术的未来进展有望扩大可检测的疾病范围，包括单基因疾病。随着这些进步，如何处理偶然发现和未知意义的变体的问题也随之而来。展望未来，至关重要的是，所有利益相关者都必须在制定政策时拥有发言权，以确保NIPT在世界各地的道德和公平使用。
Noninvasive prenatal genetic testing (NIPT) is an advance in the detection of fetal chromosomal aneuploidies that analyzes cell-free fetal DNA in the blood of a pregnant woman. Since its introduction to clinical practice in Hong Kong in 2011, NIPT has quickly spread across the globe. While many professional societies currently recommend that NIPT be used as a screening method, not a diagnostic test, its high sensitivity (true positive rate) and specificity (true negative rate) make it an attractive alternative to the serum screens and invasive tests currently in use. Professional societies also recommend that NIPT be accompanied by genetic counseling so that families can make informed reproductive choices. If NIPT becomes more widely adopted, States will have to implement regulation and oversight to ensure it fits into existing legal frameworks, with particular attention to returning fetal sex information in areas where sex-based abortions are prevalent. Although there are additional challenges for NIPT uptake in the developing world, including the lack of health care professionals and infrastructure, the use of NIPT in low-resource settings could potentially reduce the need for skilled clinicians who perform invasive testing. Future advances in NIPT technology promise to expand the range of conditions that can be detected, including single gene disorders. With these advances come questions of how to handle incidental findings and variants of unknown significance. Moving forward, it is essential that all stakeholders have a voice in crafting policies to ensure the ethical and equitable use of NIPT across the world.