生殖医学杂志2025，Vol.34Issue(11)：1493-1501,9.DOI:10.3969/j.issn.1004-3845.2025.11.007
无创产前检测在辅助生殖和自然妊娠胎儿染色体疾病筛查中的应用分析
Application analysis of NIPT in chromosomal disease screening for fetuses in assisted reproductive technology and natural pregnancies
摘要
Abstract
Objectives:To explore the efficacy and application prospect of non-invasive prenatal testing(NIPT)for screening chromosomal diseases in fetuses with assisted reproductive technology(ART)and natural pregnancies. Methods:A total of 13 067 pregnant women who received NIPT in Maanshan Maternal and Child Health Care Hospital from January 2020 to December 2023 were selected.Prenatal diagnostic results and pregnancy outcomes were collected.Participants were divided into two groups based on the conception method:the ART group(n=1 329)and the natural conception group(n=11 738).The screening performance of NIPT for target diseases in terms of trisomies(21 trisomy,18 trisomy,and 13 trisomy),sex chromosome aneuploidies(SCA),and other autosomal abnormalities was analyzed.Additionally,correlations of maternal age,gestational age at the time of NIPT,conception mode,fetal free DNA concentration with chromosomal abnormalities were evaluated. Results:There were significant differences in maternal age,gestational age,and fetal type between the ART group and the natural conception group for NIPT screening of pregnant women(P＜0.05).There was no significant difference in the concentration of free DNA between the two groups of fetuses(P＞0.05).The high-risk rate of NIPT only showed significant differences in the age of pregnant women(P＜0.05).NIPT identified 149 high-risk cases with a positive rate of 1.14％(149/13 067).Among these cases,125 cases underwent invasive prenatal diagnosis.The diagnostic confirmation rates were 92.31％(36/39)for target trisomies and 80.91％(89/110)for SCA and other autosomal abnormalities.In the ART group,14 high-risk cases(1.05％,14/1 329)were identified,in whom 4 cases of the target trisomies were found with positive predictive value of 100.00％(1/1)for 21 trisomy,0.00％for 18 trisomy and 0.00％for 13 trisomy,and a composite positive predictive value for three abnormalities was 25.00％(1/4).Eight SCA cases with a positive predictive value of 50.00％(3/6),and 2 other autosomal abnormalities(both false positives)were found.In the natural conception group,135 high-risk cases(1.15％,135/11 738)were identified,in whom 35 cases of the target trisomies were found with positive predictive value of 95.45％(21/22)for 21 trisomy,57.14％(4/7)for 18 trisomy,0.00％for 13 trisomy,and the composite positive predictive value for three abnormalities was 78.13％(25/32).A total of 54 SCA abnormalities with positive predictive value of 31.82％(14/44)and 46 other autosomal ones with positive predictive value of 8.11％(3/37)were detected.The sensitivity and specificity for the detection of target trisomies exceeded 99.85％in both groups.One false-negative autosomal abnormality was identified during follow-up in the natural conception group. Conclusions:NIPT exhibits good screening efficacy for 21 trisomy,18 trisomy,and 13 trisomy in fetuses from both ART and natural pregnancies,exerts a certain screening effect for SCA,and has relatively low screening efficacy for autosomal abnormalities,making it an ideal prenatal screening method in the population of both ART and natural pregnancies.关键词
无创产前检测/辅助生殖技术/性染色体非整倍体/年龄/孕周/产前筛查Key words
Non-invasive prenatal testing/Assisted reproductive technology/Sex chromosome aneuploidy/Age/Gestational age/Prenatal screening分类
医药卫生引用本文复制引用
黄保月,魏澄,赵巍松..无创产前检测在辅助生殖和自然妊娠胎儿染色体疾病筛查中的应用分析[J].生殖医学杂志,2025,34(11):1493-1501,9.基金项目
马鞍山市医疗卫生领域科技计划项目(YL-2023-15) （YL-2023-15）
