Volume 21 Issue 2
Feb.  2023
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Article Navigation >  Chinese Journal of General Practice  > 2023  >  21(2): 267-269
LI Meng, MENG Da-hua, FU Hua-yu, XU Juan-juan, LI Jiao, LI Qiao, HUANG Jin-ai. Genetic factors of ventricular septal defect in 199 cases in the second or third trimester of pregnancy[J]. Chinese Journal of General Practice, 2023, 21(2): 267-269. doi: 10.16766/j.cnki.issn.1674-4152.002861
Citation: LI Meng, MENG Da-hua, FU Hua-yu, XU Juan-juan, LI Jiao, LI Qiao, HUANG Jin-ai. Genetic factors of ventricular septal defect in 199 cases in the second or third trimester of pregnancy[J]. Chinese Journal of General Practice, 2023, 21(2): 267-269. doi: 10.16766/j.cnki.issn.1674-4152.002861
shu

Genetic factors of ventricular septal defect in 199 cases in the second or third trimester of pregnancy

doi: 10.16766/j.cnki.issn.1674-4152.002861

  • The Maternal & Children Hospital of Guangxi Zhuang Autonomous Region, Eugenics Clinic, Guangxi Zhuang Autonomous Region, Nanning, Guangxi 530001, China

Funds:

 Z20210079

  • Received Date: 2022-02-11
    Available Online: 2023-04-20
    Abstract
  •   Objective  This study aims to explore the application value of single-nucleotide polymorphism array (SNP array) in the genetic aetiology of foetal ventricular septal defect.  Methods  A retrospective analysis was performed on 199 cases of foetal ventricular septal defect during the second or third trimester of pregnancy in Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region from January 2015 to December 2020. Amniocentesis was performed to extract amniotic fluid samples, or umbilical cord venipuncture was performed to extract umbilical cord blood samples. Chromosome karyotype and gene chip were analysed. The pathogenicity of detected CNV was analysed by querying CNV, DGV and PubMed databases.  Results  Twenty-seven cases of foetal amniotic fluid or cord blood chromosomal karyotype abnormalities were detected, with rate of 13.57%. Moreover, 22 cases of chromosome aneuploidy abnormality and 5 cases of chromosome structure abnormality were found. The SNP array detected 41 abnormalities, with the detection rate of 20.60% (41/199). The detection rate of SNP array abnormalities was slightly higher than that of chromosomal karyotype abnormalities; among the cases of microarray abnormalities, 32 cases were pathogenic; of which, 27 cases were consistent with the results of the karyotype analysis, 5 cases showed no abnormal karyotype but the chip detected chromosome microdeletion syndrome and the 9 other cases had chromosome microdeletion/microduplication of unknown clinical significance.  Conclusion  Chromosomal aneuploidy is the main diagnosis of foetal ventricular septal defect in the second or third trimester of pregnancy. SNP array detection technology can detect sub-microscopic pathogenic CNV and provide basis for genetic counselling and prognosis evaluation of foetal ventricular septal defect.

     

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