Chromosomal abnormalities and copy number variations in fetal ventricular septal defects

Meiying Cai,Hailong Huang,Na Lin,Xiaoqing Wu,Hua Cao,Gang An,Yuan Lin,Xiaorui Xie,Ying Li,Liangpu Xu,Linjuan Su

doi:10.1186/s13039-018-0408-y

Meiying Cai, Hailong Huang + Show 9 more

Open Access

https://doi.org/10.1186/s13039-018-0408-y

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Journal: Molecular Cytogenetics	Publication Date: Nov 28, 2018
Citations: 12	License type: open-access

Affiliation: Fujian Medical University

Abstract

BackgroundThis study aimed to evaluate the applicability of chromosomal microarray analysis (CMA), rather than traditional chromosome analysis, in prenatal diagnosis of ventricular septal defects (VSDs) for superior prenatal genetic counseling and to reveal a potential correlation between submicroscopic chromosomal aberrations and VSDs.ResultsAmong the 151 VSD cases, 79 (52.3%) had isolated defects and 72 (47.7%) had additional ultrasound anomalies. Karyotype analysis identified 16 chromosomal abnormalities. Besides the 14 cases of chromosome abnormalities consistent with karyotype analysis, CMA identified an additional 20 cases (13.2%) of abnormal copy number variations (CNVs), of which 13 were pathogenetic CNVs, 5 were variations of uncertain clinical significance (VOUS) and 2 were benign CNVs. The detection rate of pathogenic CNVs in non-isolated-VSDs was significantly higher than that in isolated-VSDs (36.1% (26/72) vs. 1.3% (1/79), p = 0.001). We also found that CMA results indicating pathogenic abnormalities affected the rate of pregnancy termination.ConclusionsThis study showed that CMA combined with cytogenetic analysis is particularly effective in identifying CNVs in fetuses with VSDs and can have an effect on obstetrical outcomes. The elucidation of the etiology of VSDs suggested that gene mutations or other factors may be implicated.

Highlights

This study aimed to evaluate the applicability of chromosomal microarray analysis (CMA), rather than traditional chromosome analysis, in prenatal diagnosis of ventricular septal defects (VSDs) for superior prenatal genetic counseling and to reveal a potential correlation between submicroscopic chromosomal aberrations and Ventricular septal defects (VSD)
Among the 79 isolated-VSD fetuses, karyotyping identified only one chromosomal abnormality associated with 13p+, which was not found with CMA
Detection rates of CMA with karyotyping CMA was performed in 151 VSD fetuses, with 22.5% (34/ 151) of the cases showing chromosomal abnormalities

Summary

Introduction

This study aimed to evaluate the applicability of chromosomal microarray analysis (CMA), rather than traditional chromosome analysis, in prenatal diagnosis of ventricular septal defects (VSDs) for superior prenatal genetic counseling and to reveal a potential correlation between submicroscopic chromosomal aberrations and VSDs. Congenital heart disease (CHDs) is one of the most common types of birth defects, affecting up to 8 in every 1000 babies born in the China [1]. Ventricular septal defects (VSDs) are the most common cardiac defects seen postnatally, accounting for 30–35% of all CHDs detected after birth and 10% of all fetal cases [2, 3]. We tried to elucidate genetic factors that cause fetal VSD and explore the clinical value of the application of CMA in the diagnosis of VSD in fetuses

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