Effectiveness and utility of noninvasive prenatal screening (NIPS) for sex chromosome aneuploidies

Noninvasive prenatal screening (NIPS) has high sensitivity and specificity for the common autosomal aneuploidies. However, compared to these autosomal trisomies, the few studies assessing NIPS for detecting sex chromosome aneuploidy (SCA) have shown higher false positive rates; particularly for monosomy X. The primary goal of this study was to determine the effectiveness and utility of NIPS as a tool for recognizing SCA; we also discuss uptake of diagnostic testing.