Chromosomal abnormalities and copy number variations in fetal ventricular septal defects
Abstract Background 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...
Main Authors: | , , , , , , , , , , |
---|---|
Format: | Article |
Language: | English |
Published: |
BMC
2018-11-01
|
Series: | Molecular Cytogenetics |
Subjects: | |
Online Access: | http://link.springer.com/article/10.1186/s13039-018-0408-y |
id |
doaj-991e911b0f14418784302fc1a32ed5c6 |
---|---|
record_format |
Article |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Meiying Cai Hailong Huang Linjuan Su Na Lin Xiaoqing Wu Xiaorui Xie Gang An Ying Li Yuan Lin Liangpu Xu Hua Cao |
spellingShingle |
Meiying Cai Hailong Huang Linjuan Su Na Lin Xiaoqing Wu Xiaorui Xie Gang An Ying Li Yuan Lin Liangpu Xu Hua Cao Chromosomal abnormalities and copy number variations in fetal ventricular septal defects Molecular Cytogenetics Ventricular septal defects Chromosomal microarray analysis Chromosomal abnormality Prenatal diagnosis |
author_facet |
Meiying Cai Hailong Huang Linjuan Su Na Lin Xiaoqing Wu Xiaorui Xie Gang An Ying Li Yuan Lin Liangpu Xu Hua Cao |
author_sort |
Meiying Cai |
title |
Chromosomal abnormalities and copy number variations in fetal ventricular septal defects |
title_short |
Chromosomal abnormalities and copy number variations in fetal ventricular septal defects |
title_full |
Chromosomal abnormalities and copy number variations in fetal ventricular septal defects |
title_fullStr |
Chromosomal abnormalities and copy number variations in fetal ventricular septal defects |
title_full_unstemmed |
Chromosomal abnormalities and copy number variations in fetal ventricular septal defects |
title_sort |
chromosomal abnormalities and copy number variations in fetal ventricular septal defects |
publisher |
BMC |
series |
Molecular Cytogenetics |
issn |
1755-8166 |
publishDate |
2018-11-01 |
description |
Abstract Background 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. Results Among 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. Conclusions This 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. |
topic |
Ventricular septal defects Chromosomal microarray analysis Chromosomal abnormality Prenatal diagnosis |
url |
http://link.springer.com/article/10.1186/s13039-018-0408-y |
work_keys_str_mv |
AT meiyingcai chromosomalabnormalitiesandcopynumbervariationsinfetalventricularseptaldefects AT hailonghuang chromosomalabnormalitiesandcopynumbervariationsinfetalventricularseptaldefects AT linjuansu chromosomalabnormalitiesandcopynumbervariationsinfetalventricularseptaldefects AT nalin chromosomalabnormalitiesandcopynumbervariationsinfetalventricularseptaldefects AT xiaoqingwu chromosomalabnormalitiesandcopynumbervariationsinfetalventricularseptaldefects AT xiaoruixie chromosomalabnormalitiesandcopynumbervariationsinfetalventricularseptaldefects AT gangan chromosomalabnormalitiesandcopynumbervariationsinfetalventricularseptaldefects AT yingli chromosomalabnormalitiesandcopynumbervariationsinfetalventricularseptaldefects AT yuanlin chromosomalabnormalitiesandcopynumbervariationsinfetalventricularseptaldefects AT liangpuxu chromosomalabnormalitiesandcopynumbervariationsinfetalventricularseptaldefects AT huacao chromosomalabnormalitiesandcopynumbervariationsinfetalventricularseptaldefects |
_version_ |
1725859019246010368 |
spelling |
doaj-991e911b0f14418784302fc1a32ed5c62020-11-24T21:56:15ZengBMCMolecular Cytogenetics1755-81662018-11-011111710.1186/s13039-018-0408-yChromosomal abnormalities and copy number variations in fetal ventricular septal defectsMeiying Cai0Hailong Huang1Linjuan Su2Na Lin3Xiaoqing Wu4Xiaorui Xie5Gang An6Ying Li7Yuan Lin8Liangpu Xu9Hua Cao10Department of the Prenatal Diagnosis Center, Fujian Provincial Maternity and Children’s Hospital, affiliated hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth DefectDepartment of the Prenatal Diagnosis Center, Fujian Provincial Maternity and Children’s Hospital, affiliated hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth DefectDepartment of the Prenatal Diagnosis Center, Fujian Provincial Maternity and Children’s Hospital, affiliated hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth DefectDepartment of the Prenatal Diagnosis Center, Fujian Provincial Maternity and Children’s Hospital, affiliated hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth DefectDepartment of the Prenatal Diagnosis Center, Fujian Provincial Maternity and Children’s Hospital, affiliated hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth DefectDepartment of the Prenatal Diagnosis Center, Fujian Provincial Maternity and Children’s Hospital, affiliated hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth DefectDepartment of the Prenatal Diagnosis Center, Fujian Provincial Maternity and Children’s Hospital, affiliated hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth DefectDepartment of the Prenatal Diagnosis Center, Fujian Provincial Maternity and Children’s Hospital, affiliated hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth DefectDepartment of the Prenatal Diagnosis Center, Fujian Provincial Maternity and Children’s Hospital, affiliated hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth DefectDepartment of the Prenatal Diagnosis Center, Fujian Provincial Maternity and Children’s Hospital, affiliated hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth DefectDepartment of the Prenatal Diagnosis Center, Fujian Provincial Maternity and Children’s Hospital, affiliated hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth DefectAbstract Background 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. Results Among 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. Conclusions This 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.http://link.springer.com/article/10.1186/s13039-018-0408-yVentricular septal defectsChromosomal microarray analysisChromosomal abnormalityPrenatal diagnosis |