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




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




1. 常用医学词组

  cell-free DNA 无细胞DNA

  proof-of-principle 原理论证


  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.

    2018/9/4 15:55:31     访问数:290

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