DNA Sequencing versus Standard Prenatal Aneuploidy Screening
DNA Sequencing versus Standard Prenatal Aneuploidy Screening
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DOI：
10.1056/nejmoa1311037
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发表时间：
2014-02-27
影响因子：
158.5
通讯作者：
Sehnert, Amy J.
中科院分区：
文献类型：
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作者：
Bianchi, Diana W.;Parker, R. Lamar;Sehnert, Amy J.
背景在高危孕妇中，使用母体血浆游离DNA大规模平行测序（cfDNA检测）的无创产前检测可准确检测胎儿常染色体非整倍体。它的性能在低风险women.MethodsAt 21个中心在美国，我们收集了血液样本，从单胎妊娠的妇女进行标准的非整倍体筛查（血清生化测定或无颈部的benchal测量）。我们以盲法进行了大规模平行测序，以确定每个样品的染色体剂量。主要终点是比较使用标准筛查和cfDNA检测检测胎儿21和18三体的假阳性率。出生结果或核型的参考standard.ResultsThe主要系列包括1914名妇女（平均年龄，29.6岁）与合格的样本，单胎胎儿无非整倍体，cfDNA检测的结果，并根据标准筛选的风险分类。对于21三体和18三体，cfDNA检测的假阳性率显著低于标准筛查的假阳性率（21三体为0.3% vs. 3.6%，P
BackgroundIn high-risk pregnant women, noninvasive prenatal testing with the use of massively parallel sequencing of maternal plasma cell-free DNA (cfDNA testing) accurately detects fetal autosomal aneuploidy. Its performance in low-risk women is unclear.MethodsAt 21 centers in the United States, we collected blood samples from women with singleton pregnancies who were undergoing standard aneuploidy screening (serum biochemical assays with or without nuchal translucency measurement). We performed massively parallel sequencing in a blinded fashion to determine the chromosome dosage for each sample. The primary end point was a comparison of the false positive rates of detection of fetal trisomies 21 and 18 with the use of standard screening and cfDNA testing. Birth outcomes or karyotypes were the reference standard.ResultsThe primary series included 1914 women (mean age, 29.6 years) with an eligible sample, a singleton fetus without aneuploidy, results from cfDNA testing, and a risk classification based on standard screening. For trisomies 21 and 18, the false positive rates with cfDNA testing were significantly lower than those with standard screening (0.3% vs. 3.6% for trisomy 21, P