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

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[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 [中图分类号]R714.5[文献标志码]A ［文章编号] 2097-57162025)05-0665-07 DOI: 10.13308/j.issn.2097-5716.2025.05.008

[引用格式],,罩燕龄,等.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，2025，345）：665-671.

Application value non-invasive prenatal testing in screening for fetal chromosomal copy number variationsJU Aiping，MENG Xiangrong， QIN Yanling，GU Yuying , District，Guangzhou Guangdong 51O8OO,China）

[Abstract]ObjectiveTo explore the clinical performance non-invasive prenatal testingNIPT） in screening for fetal chromosomal copy number variationsCNVs).MethodsIn this retrospective cohort study，196 high-risk NIPT samples were analyzed.The results chromosomal karyotyping analysis or chromosomal microarray analysis (CMA）were compared.The positive rate positive predictive value PPV） fetal CNVs， other clinical data were screened by NIPT,so as to assess the detection value NIPT for fetal CNVs.ResultsA total 20 378 NIPT samples were tested.Among the 196 high-risk samples，54 were CNVs，with a screening positive rate 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，

5 cases with variations unknown significance. The PPV NIPT for screening CNVs was 45.65% . Seventeen cases microdeletion CNVs 36 cases microduplication CNVs were screened outby NIPT，1 case was microdeletion combined with microduplication CNVs，accounting for 31.48% 17/54）， 66.67% 36/54）， 1.85% 1/54），respectively. The corresponding PPVs were 64.29% ， 35.48% 100.00% ，respectively. Statisticalanalysis showed that there were no statisticall significant diferences in the positiverate PPV NIPT for screening microdeletion CNVs microduplication CNVs all P>0.05 ）． ConclusionNIPT demonstrates relatively high positive rate PPVfor screening fetal CNVs.Interventional prenatal diagnosis should be recommended for those with high-risk CNVs by NIPT.NIPT combined with chromosomal karyotyping analysis CMA could provide precise genetic counseling guidance for clinical practice.

[Key words]non-invasive prenatal testing；copy number variation；chromosomal microarray analysis； positive predictive value

无创产前检测non-invasive prenatal testing,NIPT)对染色体非整倍体有较高的检出率，其目标疾病为21三体综合征T21）、18三体综合征T18）与13三体综合征(T13)，是目前广泛用于临床一线的产前筛查技术[1-2]。（剩余9992字）