XU Yunzhi,XU Xueqin,TANG Shaohua, et al. Clinical value of non-invasive prenatal testing in screening of fetal sex chrom osome aneuploidy[J]. JOURNAL OF WEZHOU MEDICAL UNIVERSITY, 2022, 52(4): 294-299.
Abstract：Objective: To investigate the application value of non-invasive prenatal testing (NIPT) in the screening of fetal sex chromosome aneuploidies (SCAs). Methods: A total of 27 116 singleton pregnant women who underwent usual NIPT (15 218) or NIPT PLUS (11 948) in Wenzhou Central Hospital from 2018 to 2019 were collected. The fetal free DNA from maternal plasma was extracted and was sequenced by high-throughput sequencing. For those with high risk of SCAs, invasive karyotype detection was performed after genetic counseling.Results: The results of usual NIPT showed that there were 125 cases of SCAs with a positive rate was 0.82% (125/15 218). Prenatal diagnosis of amniotic fluid confirmed positive in 17 cases out of 70, with the positive predictive value being 24.29% (17/70). The results of NIPT PLUS showed that there were 97 cases of SCAs with a positive rate was 0.81% (97/11 948), and 29 of 70 cases were confirmed positive by prenatal diagnosis of amniotic fluid, with the positive predictive value being 41.43% (29/70). Conclusion: With high clinical application value, NIPT can be used as a prenatal screening method for SCAs. Compared with usual NIPT, NIPT PLUS can significantly improve the prenatal screening efficiency for SCAs. Invasive prenatal diagnosis must be performed for pregnant women with NIPT or NIPT PLUS showing high SCAs risk, while patients with low risk should be alert to the possibility of missed diagnosis.
