Noninvasive prenatal testing for assessing foetal sex chromosome aneuploidy: a retrospective study of 45,773 cases

Abstract Objective To assess the positive predictive value (PPV) of noninvasive prenatal testing (NIPT) as a screening test for sex chromosome aneuploidy (SCA) with different maternal characteristics and decisions in cases. Materials methods We retrospectively analysed 45,773 singleton pregnancies that were subjected to NIPT Maternity Child Health Hospital Anhui Province. The results validated by karyotyping. Clinical data, diagnostic results, data on pregnancy outcomes collected. Results In total, 314 cases SCA NIPT; among those, 143 underwent invasive testing, 58 true-positive. Overall, PPVs 45,X, 47,XXX, 47,XXY 47,XYY 12.5%, 51.72%, 66.67% 83.33%, respectively. Interestingly, when only pregnant women advanced age (AMA) screened, 23.81%, 53.33%, 78.95%, 66.67%, frequency was significantly higher AMA group than non-AMA group. frequencies 47,XXX correlated age. Conclusion performed better predicting trisomies monosomy X, patients 45,X foetuses more eager terminate those 47,XYY. may be risk factor having foetus SCA. Our findings assist genetic counselling women. pre- posttest are essential familiarizing benefits limitations NIPT, which ease their anxiety enable them make informed choices further diagnosis decisions.