Copy-number variation and false positive prenatal aneuploidy screening results.
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ABSTRACT:
SUBMITTER: Snyder MW
PROVIDER: S-EPMC4411081 | biostudies-literature | 2015 Apr
REPOSITORIES: biostudies-literature
Publications
Copy-number variation and false positive prenatal aneuploidy screening results.
Snyder Matthew W MW Simmons LaVone E LE Kitzman Jacob O JO Coe Bradley P BP Henson Jessica M JM Daza Riza M RM Eichler Evan E EE Shendure Jay J Gammill Hilary S HS
The New England journal of medicine 20150401 17
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 chromo ...[more]
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