Study on the correlation between ventricular septal defect and chromosome abnormality
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.
NETL
NSTL
万方数据
