Clinical value of NIPS in detecting fetal chromosomal aneuploidies and copy number variations
WU Li-fang
ZHANG Rui
OU Wu
ZHU Su-you
ZOU Dan
Abstract：Objective To evaluate the clinical utility of non-invasive prenatal screening(NIPS)in detecting chromosomal aneuploidies and copy number variations(CNVs).Methods A total of 22,840 singleton pregnant women who underwent NIPS at Huizhou Second Maternity and Child Healthcare Hospital between January 1,2019 and December 31,2023 were retrospectively analyzed.Pregnant women with high-risk NIPS results were offered invasive prenatal diag-nosis.All cases were followed up until 3 months postpartum.Results NIPS identified 333 high-risk cases,of which 280 underwent invasive prenatal diagnostic testing.For common autosomal trisomies(CATs),the composite sensitivity,specificity,positive predictive value(PPV),and false-positive rate were 97.62％(41/42),99.90％(22,775/22,798),64.06％(41/64),and 0.10％(23/22,798),respectively.For rare autosomal trisomies(RATs),the corre-sponding values were 100.00％(2/2),99.74％(22,778/22,838),3.23％(2/62),and 0.26％(60/22,838).The composite PPVs for sex chromosomal aneuploidies(SCAs)and CNVs were 36.11％(39/108)and 36.96％(17/46),respectively.Conclusion NIPS demonstrates excellent screening performance for CATs,moderate performance for SCAs and CNVs,and limited utility for RATs.NIPS is a valuable non-invasive prenatal screening tool in clinical practice.
Keywords：non-invasive prenatal screeningprenatal diagnosischromosomal aneuploidycopy number varia-tion
Publication Date：2025-08-15
Online Publishing Date：2025-11-06(First online date of this platform, not the publication date of the document)
Pages：6( 1242-1247 )