Detection value of expanded non-invasive prenatal testing for pregnant women with advanced maternal age
Objective To explore the screening value of expanded non-invasive prenatal testing(NIPT Plus)for pregnant women with advanced maternal age.Methods A total of 3195 pregnant women with advanced maternal age who voluntarily underwent NIPT Plus in Jinhua Maternal and Child Health Care Hospital and its county hospitals from March 2022 to September 2023 were retrospectively collected,and the NIPT Plus screening results,karyotype and chromosome microarray analysis verification results,and pregnancy outcomes were compared and analyzed.Results The positive predictive values of NIPT Plus for trisomy 21,trisomy 18,SCAs,and CNVs were 100.0％(10/10),100.0％(3/3),60.0％(6/10),28.6％(2/7),re-spectively.NIPT Plus detected a total of 50 high-risk cases,including 38 cases with high risk of chromosomal aneuploidy,26 cases with prenatal diagnosis,the coincidence rate was 76.9％(20/26).13 cases with high risk of chromosomal copy number variation,7 cases with prenatal diagnosis,the coincidence rate was 28.6％(2/7).The positive rate of fetal chromosomal ab-normalities increased with the increase of pregnant women's age.Compared with elderly pregnant women,the incidence of fetal chromosomal abnormalities in elderly pregnant women with other risk factors was higher.Conclusion NIPT Plus has good detection performance for the screening of fetal chromosomal aneuploidy,and has certain significance for the screening of CNVs.It can be used as an effective way to make up for the refusal of interventional prenatal diagnosis in pregnant women with advanced maternal age and pregnant women with advanced maternal age with multiple clinical indications.
NETL
NSTL
万方数据
