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Clinica Chimica Acta：从胎盘到胎儿的染色体嵌合逐渐变化导致NIPS检测T18假阴性

2019-09-22 gladiator MedSci原创

NIPS检测
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与传统产前筛查相比，无创产前筛查(NIPS)具有更高的敏感性和特异性。然而，也会有NIPS与产前诊断之间的不一致结果报道。在目前的研究中，我们对一个T18胎儿的遗传基础进行了调差，该胎儿三体5 (T5)阳性和NIPS结果为三体18 (T18)阴性。

与传统产前筛查相比，无创产前筛查(NIPS)具有更高的敏感性和特异性。然而，也会有NIPS与产前诊断之间的不一致结果报道。在目前的研究中，我们对一个T18胎儿的遗传基础进行了调差，该胎儿三体5 (T5)阳性和NIPS结果为三体18 (T18)阴性。

研究人员基于半导体测序平台，采用NIPS技术检测孕妇循环血浆中胎儿DNA。采用拷贝数变异测序(CNV-seq)和染色体微阵列分析(CMA)对胎儿和胎盘组织不同部位的非整倍体进行了研究。

NIPS孕妇T5阳性，羊膜穿刺术后胎儿核型分析T18阳性。此外，通过CNV-seq和CMA发现T5和T18的胎盘嵌合，发现T5从脐带到胎盘中心的嵌合比例逐渐增大，而T18的嵌合比例逐渐减小。

由于母体循环中游离胎儿DNA (cff DNA)来源于胎盘滋养细胞，胎盘嵌合体水平可引起假阴性NIPS，导致多倍非整倍体。本研究证实T5阳性与T18阴性NIPS结果不一致是胎盘嵌合所致。

本研究强调胎盘嵌合是不一致NIPS结果的一个重要危险因素。该研究结果将有助于此类孕妇的遗传咨询和临床管理。

原始出处：

Zhiwei Wang，Xinxin Tang，A gradual change of chromosome mosaicism from placenta to fetus leading to T18 false negative result by NIPS

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    2019-10-27 windight

    #CTA#

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    2019-09-24 新生儿张玉军

    #染色体#

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    2019-09-24 chengjn

    #iPS#

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    2019-09-24 liuyong2981

    #胎盘#

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