Overview and recent developments in cell-based noninvasive prenatal testing.

Overview and recent developments in cell-based noninvasive prenatal testing.
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基于细胞的无创产前检测的概述及最新进展

DOI:
10.1002/pd.5957
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发表时间:
2021-09
期刊:
影响因子:
3
通讯作者:
--
中科院分区:
医学2区
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--
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研究人员长期以来一直对胎儿和胎盘细胞进入母体循环这一自然现象感兴趣。这些循环细胞数量稀少,这使得对它们的检测和分离在技术上具有挑战性。然而,作为一种不与母体DNA混合的胎儿来源的DNA,它们相较于基于循环无细胞DNA的无创产前基因检测(NIPT)具有相当大的潜在优势。宫颈管内滋养层细胞数量相对不那么稀少,但获取难度更大,目前也正在作为一种基于细胞的NIPT方法进行研究。我们回顾了世界各地已发表的描述这两种基于细胞的NIPT形式的研究,并强调了不同方法的优点和缺点。我们还为制定合理的基于细胞的NIPT方案提供了指导。
Investigators have long been interested in the natural phenomenon of fetal and placental cell trafficking into the maternal circulation. The scarcity of these circulating cells makes their detection and isolation technically challenging. However, as a DNA source of fetal origin not mixed with maternal DNA, they have the potential of considerable benefit over circulating cell-free DNA-based noninvasive prenatal genetic testing (NIPT). Endocervical trophoblasts, which are less rare but more challenging to recover are also being investigated as an approach for cell-based NIPT. We review published studies from around the world describing both forms of cell-based NIPT and highlight the different approaches’ advantages and drawbacks. We also offer guidance for developing a sound cell-based NIPT protocol.
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