中国妇幼保健2025，Vol.40Issue(1) ：110-113.DOI:10.19829/j.zgfybj.issn.1001-4411.2025.01.027

胎儿室间隔缺损与染色体异常相关性研究

Study on the correlation between ventricular septal defect and chromosome abnormality

刘春强 盖牟慧子 庄倩梅 傅婉玉 江矞颖 吴小霞
中国妇幼保健2025，Vol.40Issue(1) ：110-113.DOI:10.19829/j.zgfybj.issn.1001-4411.2025.01.027
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胎儿室间隔缺损与染色体异常相关性研究

Study on the correlation between ventricular septal defect and chromosome abnormality

刘春强 1盖牟慧子 2庄倩梅 1傅婉玉 1江矞颖 1吴小霞1
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作者信息

  • 1. 泉州市妇幼保健院·儿童医院产前诊断中心,福建泉州 362000
  • 2. 东营市人民医院优生遗传科
  • 折叠

摘要

目的 应用染色体微阵列技术(CMA)研究胎儿室间隔缺损(VSD)与染色体异常的相关性.方法 选取2017年1月-2023年5月泉州市妇幼保健院·儿童医院产前超声检查发现的133例VSD病例,依据是否合并其他异常,分为单纯型组(72例)、合并其他异常组(61例).所有病例均在羊水穿刺后进行CMA检测,同时培养羊水细胞进行染色体核型分析.结果 133例纳入病例均检测成功,CMA共检出32例异常病例,检出率为24.1％,其中染色体数目异常19例(59.4％),致病性拷贝数变异(CNV)7例(21.8％),临床意义不明变异(VOUS)6例.7例致病性CNV中包括3例DiGeorge综合征.合并其他异常组的CMA异常检出率为34.4％(21/61),高于单纯型组的15.3％(11/72),差异有统计学意义(P＜0.05).结论 胎儿VSD与染色体异常密切相关,异常类型以染色体数目异常为主,致病性CNV以DiGeorge综合征常见.合并其他异常组的染色体异常检出率高于单纯型组,孕期发现VSD应进行遗传学检测.

Abstract

Objective To study the correlation between fetal ventricular septal defect(VSD)and chromosomal abnormality by chromo-some microarray analysis(CMA).Methods A total of 133 cases with VSD detected during prenatal ultrasonography in Quanzhou Mater-nal and Child Health Care Hospital,Quanzhou Children's Hospital from January 2017 to May 2023 were selected and divided into simple type group and combined with other abnormality group according to whether there were other abnormalities.CMA detection was performed after amniotic fluid puncture in all the cases,and chromosome karyotype analysis of amniotic fluid cells was performed.Results The detection succeeded in 133 cases.A total of 32 abnormal cases(24.1％)were detected by CMA,including 19 cases(59.4％)with numerical abnor-mality,7 cases(21.8％)with pathogenic copy number variants(CNV),and 6 cases with variations of unknown significance(VOUS).A-mong 7 cases of pathogenic CNV,3 cases were DiGeorge syndrome.The abnormal detection rate of CMA in combined with other abnormality group was 34.4％(21/61),which was higher than that in simple type group(15.3％,11/72),there was statistically significant difference(P＜0.05).Conclusion Fetal VSD is closely related to chromosomal abnormality.Numerical abnormality is the main type of abnormali-ties,and DiGeorge syndrome is common in pathogenic CNV.The abnormal detection rate of CMA in combined with other abnormality group is higher than that in simple type group.Genetic testing should be performed when VSD is detected during pregnancy.

关键词

室间隔缺损/染色体异常/染色体微阵列技术

Key words

Ventricular septal defect/Chromosomal abnormality/Chromosome microarray analysis

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出版年

2025
中国妇幼保健
中华预防医学会 吉林省医学期刊社

中国妇幼保健

影响因子：1.486
ISSN：1001-4411
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