Clinical study of copy number variation in the etiological diagnosis of fetal congenital heart disease
ZHANG Xiao-meng
YE Yu-jiao
WANG Xue-yan
ZHAO Qian
LUO Tong-yong
WANG Jin
HE Yanjun
BAI Yan
WANG Xian-min
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.
Keywords：fetal congenital heart diseasecopy number variationgenetic factorschromosome microarray analysis
Publication Date：2024-08-06
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：5( 603-606,612 )