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

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%).