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当前产前诊断的争议:应提供包括 13、18 和 21 三体以外的其他疾病的扩展 NIPT。

Current controversies in prenatal diagnosis: Expanded NIPT that includes conditions other than trisomies 13, 18, and 21 should be offered.

机构信息

Illumina Inc., San Diego, California, USA.

University Hospital of Utrecht, Utrecht, Netherlands.

出版信息

Prenat Diagn. 2021 Sep;41(10):1316-1323. doi: 10.1002/pd.5943. Epub 2021 Jun 15.

Abstract

Non-invasive prenatal testing (NIPT) based on analysis of cell free DNA circulating in the maternal plasma has been available clinically to screen for chromosomal abnormalities since 2011. There is significant evidence to suggest that NIPT has revolutionised prenatal screening for the common trisomies 13, 18, and 21. However, the evidence in favour of its extended use to screen for conditions other than these trisomies remains a topic of debate with no national or international organisation supporting clinical implementation for these indications. In the debate presented here - "Expanded NIPT that includes conditions other than trisomies 13, 18, and 21 should be offered" - we will see the pros and cons of screening for a wider range of chromosomal problems. The discussion presented swung the vote from 65% in favour and 35% against before the arguments were voiced to 41% in favour and 59% against. This significant swing in the vote indicates that the majority of our community feel more evidence is required before clinical implementation of extended NIPT.

摘要

基于母体血浆中游离 DNA 分析的无创产前检测 (NIPT) 自 2011 年以来已可用于临床筛查染色体异常。有大量证据表明,NIPT 已彻底改变了常见的三体 13、18 和 21 的产前筛查。然而,支持将其扩展用于筛查这些三体以外的疾病的证据仍然存在争议,没有任何国家或国际组织支持将其用于这些适应症的临床实施。在本次提出的辩论中——“应提供包括三体 13、18 和 21 以外疾病的扩展 NIPT”——我们将看到筛查更广泛染色体问题的利弊。在提出论点之前,投票结果从 65%赞成和 35%反对变为 41%赞成和 59%反对。投票结果的显著变化表明,我们大多数人认为在扩展 NIPT 的临床实施之前,需要更多的证据。

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