Copy-number variation and false positive prenatal aneuploidy screening results.

  title={Copy-number variation and false positive prenatal aneuploidy screening results.},
  author={Matthew W. Snyder and Lavone E. Simmons and Jacob O. Kitzman and Bradley P. Coe and Jessica M Henson and Riza M Daza and Evan E. Eichler and Jay Shendure and Hilary S. Gammill},
  journal={The New England journal of medicine},
  volume={372 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… CONTINUE READING
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fined placental origin of the circulating cell free fetal DNA revealed by a discordant non - invasive prenatal test result in a trisomy 18 pregnancy

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