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Article

Copy-Number Variation and False Positive Prenatal Aneuploidy Screening Results

2 Apr 2015

Abstract excerpt

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...

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PMID: 25830323
DOI: 10.1056/nejmoa1408408

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