Publication

Noninvasive prenatal detection of sex chromosomal aneuploidiesby sequencing circulating cell-free DNA from maternal plasma

Amin R. Mazloom,Zeljko Dzakula, Paul Oeth, Huiquan Wang, Taylor Jensen, John Tynan, Ron McCullough, Juan-Sebastian Saldivar,Mathias Ehrich, Dirk van den Boom, Allan T. Bombard, Margo Maeder, Graham McLennan, Wendy Meschino, Glenn E. Palomaki, Jacob A. Canick and Cosmin Deciu
MaterniT21 validation for sex chromosome aneuploidy • MPSS technology for NIPT allows for genome wide analysis, and thus opportunity for expansion to other clinically relevant fetal chromosomal abnormalities, like sex chromosome aneuploidy • 411 NIPT samples • 96.2% sensitivity and 99.7% specificity overall (combined SCAs) • NIPT identification of the most common sex chromosome aneuploidies is possible using cf DNA and massively parallel sequencing with a high detection rate and a low false positive rate (0.3%).