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妊娠期间循环无细胞DNA测序
Sequencing of Circulating Cell-free DNA during Pregnancy


Diana W. Bianchi ... 妇产科和儿科 • 2018.08.02
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无创产前基因检测技术的成就、局限和展望

 

夏凡*†,周文浩‡*

†Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; ‡复旦大学附属儿科医院

*通讯作者

 

1997年卢煜明教授确立了胎儿游离DNA在孕妇血浆中存在的事实。这一发现在2011年以后被运用到临床,就是大家所知的无创产前基因检测(NIPT)。现在,全世界每年有数百万的孕妇选择NIPT检测,产生了广泛的医学和社会影响。近日,美国国立卫生研究院的Diana W. Bianchi 博士和香港中文大学的赵慧君教授在《新英格兰医学杂志》(NEJM) 发表了一篇综述Sequencing of Circulating Cell-free DNA during Pregnancy,针对NIPT做了全面的回顾和展望1

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孕妇血液中循环无细胞DNA(cfDNA)片段的序列分析,以及将这一方法转化为胎儿染色体异常筛查,是现代基因组医学的一个成功案例。在不到10年的时间里,产前cfDNA检测已经实现从小规模原理验证研究到产前护理的整体性转化。截至2017年底,共有400万~600万名孕妇接受了血浆DNA分析,以筛查胎儿非整倍性1。这一检测的指数增长与生物技术企业对这一技术的开发和营销有关。我们在本文中回顾从该检测的大规模实施中学到了什么,它如何改变了产前临床护理,以及出现了什么伦理问题,并且我们对未来进行了展望。





作者信息

Diana W. Bianchi, M.D., and Rossa W.K. Chiu, M.B., B.S., Ph.D.
From the Prenatal Genomics and Fetal Therapy Section, Medical Genetics Branch, National Human Genome Research Insti- tute, National Institutes of Health, Bethes- da, MD (D.W.B.); and the Li Ka Shing Institute of Health Sciences and the De- partment of Chemical Pathology, Chinese University of Hong Kong, Shatin, Hong Kong (R.W.K.C.).

 

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