Copy-number variation and false positive prenatal aneuploidy screening results.
Copy-number variation and false positive prenatal aneuploidy screening results.
复制标题
DOI：
10.1056/nejmoa1408408
复制
发表时间：
2015-04-23
期刊：
影响因子：
--
通讯作者：
Gammill HS
中科院分区：
文献类型：
--
作者：
Snyder MW;Simmons LE;Kitzman JO;Coe BP;Henson JM;Daza RM;Eichler EE;Shendure J;Gammill HS
通过循环无细胞DNA （cfDNA）分析对非整倍体进行无创产前筛查的研究显示，在高风险和低风险队列中都具有很高的敏感性和特异性。然而，非整倍体的总体低发生率限制了这些测试的阳性预测价值。目前，人们对假阳性结果的原因知之甚少。我们调查了四例产前检查结果不一致的妊娠，发现在两例中，母体18号染色体的重复可能是导致不一致结果的原因。基于群体水平拷贝数变异的建模支持了一种可能性，即无创产前筛查的一些假阳性结果可能归因于母体拷贝数的大变异。（由美国国立卫生研究院和其他机构资助。）
Investigations of noninvasive prenatal screening for aneuploidy by analysis of circulating cell-free DNA (cfDNA) have shown high sensitivity and specificity in both high-risk and low-risk cohorts. However, the overall low incidence of aneuploidy limits the positive predictive value of these tests. Currently, the causes of false positive results are poorly understood. We investigated four pregnancies with discordant prenatal test results and found in two cases that maternal duplications on chromosome 18 were the likely cause of the discordant results. Modeling based on population-level copy-number variation supports the possibility that some false positive results of noninvasive prenatal screening may be attributable to large maternal copy-number variants. (Funded by the National Institutes of Health and others.)