【Sequencing of Circulating Cell-free DNA during Pregnancy妊娠循环无细胞DNA测序】译文

作者:邵杰[1] 
单位:美中宜和医疗集团[1]

原文选自新英格兰杂志

译者:邵杰


Chromosome n.染色体

Cytotrophoblast n. 细胞滋养层

Syncytiotrophoblast n. 合体滋养层

Aneuploidy n. 非整倍体


  Advances in DNA sequencing have facilitated a change in the method used to screening for fetal chromosome trisomies. During pregnancy, DNA fragments are released from the placenta into the maternal circulation as cytotrophoblast and syncytiotrophoblast cells undergo physiologic cycles of fusion and apoptosis (see video at NEJM.org). Sequence analysis of cell-free DNA (cfDNA) fragments that circulate in the blood of pregnant women, along with the translation of this method into screening for fetal chromosome abnormalities, is a success story of modern genomic medicine. In less than a decade, prenatal cfDNA testing has gone from small, proof-of-principle studies to a global transformation of prenatal care. As of late 2017, a total of 4 million to 6 million pregnant women had had DNA from their plasma analyzed to screen for fetal aneuploidy. The exponential growth of the test has been a function of the role of the biotechnology industry in its development and marketing. What has been learned from the wide-scale implementation of this testing and how it has changed prenatal clinical care. This review described the base and development of the method and the authors speculated about what lies ahead.


  Maternal plasma cfDNA sequencing has resulted in more precise screening, reduced invasive procedures, and d multiple ethical challenges.1


【译文】

  DNA测序的进展促进了筛选胎儿染色体三倍体方法的改变。怀孕期间,当细胞滋养层和合胞体滋养层细胞经过融合和凋亡的生理循环时,胎儿DNA片段从胎盘释放到母体循环中(参见NEJM网站的视频)。对孕妇血液中循环的无细胞DNA(cfDNA)片段进行序列分析,以及将该方法应用于筛查胎儿染色体异常,是现代基因组学的一个成功案例。不到十年的时间里,产前cfDNA检测已经从小规模的原理论证研究转变为产前护理的整体性转化。截至2017年底,共有400万至600万孕妇进行了血浆DNA检测分析以筛查胎儿非整倍性。该检测的指数增长取决于生物产业在其开发和营销中的作用。从这个检测的大规模实施中学到了什么以及它如何改变了产前临床护理。这篇综述描述了该方法的基础和发展,并且推测了未来发展方向。母体血浆cfDNA测序导致更加精确的筛查、减少侵入性检查并且产生许多伦理学的挑战。


【医学单词记忆之道】

1. 常用医学词组


  cell-free DNA 无细胞DNA

  proof-of-principle 原理论证


【医学英语延伸阅读】


  Sequencing of cfDNA for detection of the common fetal autosomal aneuploidies is likely to be increasingly adopted by publicly funded programs as a first-tier test for both high-risk and low-risk women because of its superior performance in screening for the common aneuploidies. A major issue posed by the rapid advance of this technology is the question of what should be screened for prenatally. To date, clinical utility, as demonstrated by the reduction of unnecessary invasive procedures, has been reproducibly demonstrated only for the common autosomal aneuploidies. Noninvasive whole-genome sequencing for rare autosomal trisomies could perhaps shed light on the origins of miscarriages that occur after 10 weeks of gestation.


  Noninvasive prenatal screening for single-gene disorders is an active area with increasing test volumes. Methodologic strategies have also been achieved for the noninvasive prenatal detection of fetal de novo mutations and decoding of the entire fetal genome. Maternal plasma placental RNA sequencing also has potential clinical utility as a screen for preeclampsia and preterm birth.


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