NIPT and the concerns regarding 'routinisation'.
NIPT and the concerns regarding 'routinisation'.
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DOI：
10.1038/s41431-022-01053-6
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发表时间：
2022-06
影响因子：
5.2
通讯作者：
Horn, Ruth
中科院分区：
文献类型：
--
作者：
Horn, Ruth
非侵入性产前检测（NIPT）是一项快速发展的技术，不断扩大其在生殖医学中的范围;这一发展不仅加剧了现有的伦理问题，也提出了新的伦理问题[1]。与其他产前检查相比，NIPT具有许多优势。这种筛查测试需要对妇女进行侵入性较小的程序，因为它是基于孕妇血液中发现的无细胞胎儿DNA，并且没有相关的流产风险。它可以早在妊娠9或10周进行，并且比其他产前检查（如超声波扫描或联合妊娠早期筛查）更准确地筛查常见的非整倍体（例如Trisomy（T）21，T18或T13）。NIPT对于常见的非整倍体目前还没有被用作诊断测试，因此阳性NIPT测试仍然需要侵入性测试（绒毛膜穿刺术，绒毛膜绒毛取样）进行确认。然而，由于NIPT的高准确性，与其他筛查测试相比，当她们收到较低风险结果时，将向更少的女性提供验证性侵入性测试。尽管NIPT的发展仍在进行中，一些商业公司也为一系列其他异常（如微缺失或单基因疾病）提供NIPT，但科学家们质疑目前使用NIPT进行这些目的的实用性。自2011年推出以来，NIPT已在全球私营部门普及，并越来越多地在公共部门普及。尽管一些国家（如英国、法国、德国）决定提供NIPT作为全额报销的二级检测（即在初始风险评估后）[2]，但其他国家（如荷兰和比利时）部分报销NIPT作为一级检测的使用。
Non-invasive prenatal testing (NIPT) is a rapidly developing technology which is constantly widening its scope in reproductive medicine; a development that is accentuating existing as well as raising new ethical questions [1]. NIPT carries a number of advantages compared to other prenatal tests. This screening test requires less invasive procedures on the woman as it is based on cell-free foetal DNA found in the blood of a pregnant woman and has no associated miscarriage risk. It can be done as early as 9 or 10 weeks of gestation and is more accurate screening for common aneuploidies (eg Trisomy (T) 21, T18 or T13) than other prenatal tests such as ultrasound scans or the combined first-trimester screening. NIPT for common aneuploidies is not used as a diagnostic test at present and so a positive NIPT test still requires invasive testing (amniocentesis, ChorionicVillus Sampling) for confirmation. However, because of the high accuracy of NIPT, fewer women will be offered confirmatory invasive tests, when they receive a lower risk result, compared to other screening tests. Although there is ongoing development of the test and some commercial companies offer NIPT for a range of other anomalies (eg microdeletions or single gene disorders), scientists question the utility of using NIPT for these purposes at present.Since its introduction in 2011, NIPT has become globally available in the private sector, and increasingly also in the public sector. Whereas some countries (eg England, France, Germany) decided to offer NIPT as a fully reimbursed second-tier test (ie following initial risk assessment)[2], other countries (eg the Netherlands and Belgium) partially reimburse the use of NIPT as a first-tier test.
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影响因子：
5.2
作者：
Perrot, Adeline;Horn, Ruth
通讯作者：
Horn, Ruth
影响因子：
5.2
作者：
van der Meij, Karuna R. M.;Njio, Annabel;Martin, Linda;Gitsels-van der Wal, Janneke T.;Bekker, Mireille N.;van Vliet-Lachotzki, Elsbeth H.;van der Ven, A. Jeanine E. M.;Kater-Kuipers, Adriana;Timmermans, Danielle R. M.;Sistermans, Erik A.;Galjaard, Robert-Jan H.;Henneman, Lidewij
通讯作者：
Henneman, Lidewij
影响因子：
5.2
作者：
Garcia, Elisa;Henneman, Lidewij;Timmermans, Danielle R. M.
通讯作者：
Timmermans, Danielle R. M.
影响因子：
5.2
作者：
de Jong, Antina;Dondorp, Wybo J.;de Wert, Guido M. W. R.
通讯作者：
de Wert, Guido M. W. R.