Non-Invasive Prenatal Testing Assisted In Detecting Fetus Sex Chromosome Aneuploidy: A Retrospective Study Of 6,002 Singleton Pregnancy Women Cohort

Objectives: The objective of this study was to evaluate the performance of non-invasive prenatal testing (NIPT) in detecting fetus sex chromosome aneuploidy (SCA). Methods: This was a retrospective study in a large patient cohort of 6,002 singleton pregnancy women which underwent NIPT as a prenatal screening test for trisomies 21, 18 and 13, with X and Y chromosomes as secondary findings, in Yantai Yuhuangding Hospital. Results: In the present study, 26 cases were classified as SCA-positive by NIPT. In these cases, karyotyping confirmed 11 cases of the NIPT results (four XXX cases, two XXY cases, three XYY cases and two X cases), giving a positive predictive value of 52.38% (11/21 cases confirmed by karyotyping), ten cases received the examination results and terminated pregnancy, one case decided to continue with pregnancy and there was no abnormality in the appearance of the newborn. In addition, the false positive rate was 38.09% (8/21) and seven cases could not be confirmed by karyotyping. Conclusion: Based on our results, clinical application of NIPT on the non-invasive detection of fetal SCA is feasible. Along with other clinical testing methods, it would provide a simple, safe and convenient clinical way for patients to make decisions.