Article
Validation of a SNP-based non-invasive prenatal test to detect the fetal 22q11.2 deletion in maternal plasma samples.
PloS one - 1 Jan 2018
Ravi Harini, McNeill Gabriel, Goel Shruti, Meltzer Steven D, Hunkapiller Nathan, Ryan Allison, Levy Brynn, Demko Zachary P
Abstract excerpt
INTRODUCTION: Non-invasive prenatal testing (NIPT) for aneuploidy using cell-free DNA in maternal plasma has been widely adopted. Recently, NIPT coverage has expanded to detect subchromosomal abnormalities including the 22q11.2 deletion. Validation of a SNP-based NIPT for detection of 22q11.2 deletions demonstrating a high sensitivity (97.8%) and specificity (99.75%) has been reported. We sought to further...
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