中国妇幼健康研究2026，Vol.37Issue(4)：62-68,7.DOI:10.3969/j.issn.1673-5293.2026.04.009
胎儿室间隔缺损的产前遗传学检测策略:染色体核型分析、微阵列与外显子组测序的诊断效能比较
Prenatal genetic testing strategies for fetal ventricular septal defects:comparison of diagnostic efficacy among chromosome karyotyping,chromosomal microarray analysis and whole-exome sequencing
摘要
Abstract
Objective To evaluate genetic diagnostic value of chromosome karyotyping,chromosomal microarray analysis(CMA),and whole-exome sequencing(WES)for prenatally diagnosed fetal ventricular septal defects(VSD).Methods A total of 204 fetuses who were prenatally diagnosed as VSD by ultrasound at Anhui Women and Children's Medical Center from March 2020 to December 2024 were selected as study subjects and were categorized as follow four groups:isolated VSD group(Group Ⅰ,n=69),VSD accompanied with other intracardiac malformation group(Group Ⅱ,n=39),VSD accompanied with extracardiac malformation group(Group Ⅲ,n=29),and VSD accompanied with soft markers and/or high-risk factors group(Group Ⅳ,n=67).All fetuses were examined for karyotyping and CMA.After comprehensive genetic counseling,WES was performed on 14 fetuses with negative karyotyping and CMA results were screened,and they and their parents were examined for WES further.Results Karyotyping identified 13 cases of pathogenic genetic abnormalities,the positive detection rate was 6.37%(13/204),including 10 cases of aneuploidies(76.92%).Subgroup analysis revealed that the positive detection rate of pathogenic genetic abnormalities by karyotyping in the VSD accompanied with extracardiac malformations group(Group Ⅲ)was 20.69%(6/29),which was significantly higher than 1.45%(1/69)in the isolated VSD group(Group Ⅰ)and showed a significant difference between the two groups(Fisher's exact probability method,P<0.05).And aneuploidy abnormalities accounted for 17.24%(5/29)of the cases in Group Ⅲ,whereas no aneuploidy abnormalities was detected in Group Ⅰ.CMA provided an incremental yield of 3.14%(6/191)of detection rate of pathogenic gefnetic abnormalities in those cases with negative karyotyping results,in detail,in groups Ⅰ,Ⅱ,Ⅲand Ⅳ,the incremental detection rates were 2.94%(2/68),2.63%(1/38),8.70%(2/23)and 1.61%(1/62)respectively.WES demonstrated 21.43%(3/14)of incremental detection rate of pathogenic genetic chromosomal abnormalities.Conclusion Fetuses with VSD and extracardiac malformation exhibit a significantly increased risk of chromosomal abnormalities,predominantly aneuploidy.It is recommended that genetic testing based on chromosomal karyotyping combined with CMA should be done for all fetuses prenatally diagnosed as VSD,if necessary,WES should be conducted further.CMA should be prioritized as a first-tier test for VSD when other structural anomalies coexist.关键词
胎儿/室间隔缺损/染色体微阵列分析/全外显子组测序/染色体核型分析/产前诊断Key words
fetus/ventricular septal defect/chromosome microarray analysis/whole-exome sequencing/chromosomal karyotyping/prenatal diagnosis分类
医药卫生引用本文复制引用
夏诗雨,杜存宝,钱警语,卢晓倩,陈先侠..胎儿室间隔缺损的产前遗传学检测策略:染色体核型分析、微阵列与外显子组测序的诊断效能比较[J].中国妇幼健康研究,2026,37(4):62-68,7.基金项目
安徽省高校自然科学基金重点项目(2023AH050575) （2023AH050575）
