Stem Cell Reviews and Reports ( IF 4.5 ) Pub Date : 2021-08-12 , DOI: 10.1007/s12015-021-10228-5 Margit Rosner 1 , Thomas Kolbe 2, 3 , Viktor Voronin 1 , Markus Hengstschläger 1
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Cell-free fetal DNA (cffDNA)-based non-invasive prenatal testing (NIPT) is considered to be a very promising screening tool for pregnant women with an increased risk of fetal aneuploidy. Already millions of women worldwide underwent NIPT. However, due to the observed false-positive and false-negative results, this screening approach does not fulfil the criteria of a diagnostic test. Accordingly, positive results still require risk-carrying invasive prenatal testing, such as amniocentesis or chorionic villus sampling (CVS), for confirmation. Such hurdles need to be overcome before NIPT could become a diagnostic approach widely used in the general population. Here we discuss new evidence that besides the placenta amniotic fluid stem cells (AFSCs) could also represent an origin of cffDNA in the mother’s blood. A comprehensive picture of the involved cell source repertoire could pave the way to more reliable interpretations of NIPT results and ameliorate counselling of advice-seeking patients.
Graphical abstract
中文翻译：
羊水干细胞和用于无创产前检测的细胞源库
基于无细胞胎儿 DNA (cffDNA) 的非侵入性产前检测 (NIPT) 被认为是用于胎儿非整倍体风险增加的孕妇的非常有前景的筛查工具。全世界已有数百万女性接受了 NIPT。然而，由于观察到的假阳性和假阴性结果，这种筛查方法不符合诊断测试的标准。因此，阳性结果仍需要进行有风险的侵入性产前检测，例如羊膜穿刺术或绒毛膜绒毛取样 (CVS)，以进行确认。在 NIPT 成为广泛用于普通人群的诊断方法之前，需要克服这些障碍。在这里，我们讨论了新的证据，即除了胎盘羊水干细胞 (AFSC) 还可以代表母亲血液中 cffDNA 的起源。
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