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首页> 外文期刊>Proceedings of the National Academy of Sciences of the United States of America >Noninvasive Diagnosis Of Fetal Aneuploidy By Shotgun Sequencing Dna From Maternal Blood
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Noninvasive Diagnosis Of Fetal Aneuploidy By Shotgun Sequencing Dna From Maternal Blood

机译：Shot弹枪测序孕妇血中DNA的非侵入性诊断胎儿非整倍体

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摘要

We directly sequenced cell-free DNA with high-throughput shotgun sequencing technology from plasma of pregnant women, obtaining, on average, 5 million sequence tags per patient sample. This enabled us to measure the over- and underrepresentation of chromosomes from an aneuploid fetus. The sequencing approach is polymorphism-independent and therefore universally applicable for the noninvasive detection of fetal aneuploidy. Using this method, we successfully identified all nine cases of trisomy 21 (Down syndrome), two cases of trisomy 18 (Edward syndrome), and one case of trisomy 13 (Patau syndrome) in a cohort of 18 normal and aneuploid pregnancies; trisomy was detected at gestational ages as early as the 14th week. Direct sequencing also allowed us to study the characteristics of cell-free plasma DNA, and we found evidence that this DNA is enriched for sequences from nucleosomes.
机译：我们使用孕妇血浆中的高通量鸟枪测序技术直接对无细胞DNA进行测序，每个患者样本平均可获得500万个序列标签。这使我们能够测量非整倍体胎儿染色体的过多和不足。测序方法不依赖于多态性，因此普遍适用于胎儿非整倍性的无创检测。使用这种方法，我们在18例正常和非整倍性妊娠的队列中成功鉴定了所有9例21三体综合征（唐氏综合征），2例18三体综合征（Edward综合征）和1例13三体综合征（Patau综合征）。早在第14周就在胎龄检测到三体性。直接测序还使我们能够研究无细胞血浆DNA的特征，并且我们发现了这种DNA富含核小体序列的证据。

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