中国实用儿科杂志2024，Vol.39Issue(8)：603-606,612,5.DOI:10.19538/j.ek2024080610
拷贝数变异在胎儿先天性心脏病病因诊断中的临床研究
Clinical study of copy number variation in the etiological diagnosis of fetal congenital heart disease
张晓萌 1叶玉娇 1汪雪雁 2赵婧 3罗同勇 1王锦 2贺艳君 2白艳 3王献民1
作者信息
- 1. 四川省妇幼保健院成都医学院附属妇女儿童医院儿童心脏病中心,四川成都 610000
- 2. 四川省妇幼保健院成都医学院附属妇女儿童医院医学遗传与产前诊断中心,四川成都 610000
- 3. 四川省妇幼保健院成都医学院附属妇女儿童医院超声科,四川成都 610000
- 折叠
摘要
Abstract
Objective To study the clinical value of copy number variation(CNVs)in the etiological diagnosis of fetal congenital heart disease(CHD)and to supplement the potential causes of fetal CHD.Methods A retrospective analysis was used in this study.A total of 3386 patients who underwent amniotic fluid puncture examination in Sichuan Maternal and Child Health Care Hospital from January 2020 to August 2022 were collected and divided into control group(2689 cases)and experimental group(697 cases).The experimental group was further divided into 3 subgroups,namely,simple CHD,complex CHD and CHDwith extracardiac malformations.The difference in detection rate of CNVs pathogenicity was analyzed.Results In the experimental group,a total of 53 cases of CNVs were detected,and 34 cases of pathogenic CNVs were detected,9 cases were CNVs of unknown clinical significance(VOUS),and 8 cases were potentially pathogenic,among which NF1,HNF1B and MAP3K20 might be related to the occurrence of fetal CHD.Conclusion The detection rate of CNVs and chromosome karyotype abnormality of CHD in fetuses is significantly higher than that in normal fetuses.Chromosome microarray analysis can be used as a supplement to traditional chromosome karyotype analysis.Some CNVs(VOUS)phenotypes of unknown clinical significance remain to be further verified.关键词
胎儿先天性心脏病/拷贝数变异/遗传因素/染色体微阵列分析Key words
fetal congenital heart disease/copy number variation/genetic factors/chromosome microarray analysis分类
医药卫生引用本文复制引用
张晓萌,叶玉娇,汪雪雁,赵婧,罗同勇,王锦,贺艳君,白艳,王献民..拷贝数变异在胎儿先天性心脏病病因诊断中的临床研究[J].中国实用儿科杂志,2024,39(8):603-606,612,5.
