实用心电与临床诊疗2025，Vol.34Issue(5)：665-671,7.DOI:10.13308/j.issn.2097-5716.2025.05.008
无创产前检测在筛查胎儿染色体拷贝数变异中的应用价值
Application value of non-invasive prenatal testing in screening for fetal chromosomal copy number variations
摘要
Abstract
Objective To explore the clinical performance of non-invasive prenatal testing(NIPT)in screening for fetal chromosomal copy number variations(CNVs).Methods In this retrospective cohort study,196 high-risk NIPT samples were analyzed.The results of chromosomal karyotyping analysis or chromosomal microarray analysis(CMA)were compared.The positive rate and positive predictive value(PPV)of fetal CNVs,and other clinical data were screened by NIPT,so as to assess the detection value of NIPT for fetal CNVs.Results A total of 20 378 NIPT samples were tested.Among the 196 high-risk samples,54 were CNVs,with a screening positive rate of 0.265％.Forty-six pregnant women underwent interventional prenatal diagnosis,among whom there were 21 cases confirmed with CNVs including 13 cases with pathogenic variations,3 cases with likely pathogenic variations,and 5 cases with variations of unknown significance.The PPV of NIPT for screening CNVs was 45.65％.Seventeen cases of microdeletion CNVs and 36 cases of microduplication CNVs were screened out by NIPT,and 1 case was microdeletion combined with microduplication CNVs,accounting for 31.48％(17/54),66.67％(36/54),and 1.85％(1/54),respectively.The corresponding PPVs were 64.29％,35.48％and 100.00％,respectively.Statistical analysis showed that there were no statistically significant differences in the positive rate and PPV of NIPT for screening microdeletion CNVs and microduplication CNVs(all P＞0.05).Conclusion NIPT demonstrates relatively high positive rate and PPV for screening fetal CNVs.Interventional prenatal diagnosis should be recommended for those with high-risk of CNVs by NIPT.NIPT combined with chromosomal karyotyping analysis and CMA could provide precise genetic counseling and guidance for clinical practice.关键词
无创产前检测/拷贝数变异/染色体微阵列分析/阳性预测值Key words
non-invasive prenatal testing/copy number variation/chromosomal microarray analysis/positive predictive value分类
临床医学引用本文复制引用
鞠爱萍,孟祥荣,覃燕龄,古玉莹..无创产前检测在筛查胎儿染色体拷贝数变异中的应用价值[J].实用心电与临床诊疗,2025,34(5):665-671,7.基金项目
广州市花都区医疗卫生一般科研专项项目(23-HDWS-069,24-HDWS-071) （23-HDWS-069,24-HDWS-071）
广州市花都区胡忠医院院内科研立项项目(2024001) （2024001）
