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Prenatal diagnosis of submicroscopic chromosomal aberrations in fetuses with ventricular septal defects by chromosomal microarray‐based analysis
Author(s) -
Du Liu,
Xie HongNing,
Huang LinHuan,
Xie YingJun,
Wu LiHong
Publication year - 2016
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.4953
Subject(s) - fetus , prenatal diagnosis , copy number variation , karyotype , microarray , microarray analysis techniques , biology , down syndrome , chromosome , medicine , genetics , pregnancy , gene , genome , gene expression
Objectives To evaluate the usefulness of chromosomal microarray analysis in fetuses with ventricular septal defects (VSDs) with or without associated anomalies and normal karyotype. Methods Fetuses with VSDs and normal karyotypes were investigated by using an Affymetrix CytoScan HD array. The cases were classified as isolated or nonisolated VSDs. Results Among the 52 VSD fetuses, 22 (42.3%) had isolated defects and 30 (57.7%) had additional other ultrasound anomalies. Twenty‐six CNVs were identified in 18 fetuses (34.6%), 15 benign CNVs were detected in 11 (21.2%) fetuses, and 8 pathogenic CNVs were detected in 6 (11.5%) fetuses. After excluding 2 fetuses with 22q11.2 deletion syndrome, the rate of pathogenic CNVs was 7.7%. The proportion of variants of unknown significance was 5.8% (3/52). In five cases, additional malformations were detected after birth or abortion, and one case had a prenatal isolated VSD. The detection rate of pathogenic CNVs in nonisolated VSDs was nonsignificantly higher than that in prenatal or postnatal isolated VSDs (4.5%, 1/22 vs 16.7%, 5/30, P = 0.226; 0/21 vs 19.4%, 6/31, P = 0.07). Conclusions The results demonstrated the value of chromosomal microarray analysis in the prenatal diagnosis of VSDs. The complexity of other defects enhanced the frequency of pathogenic CNVs, although the results were not significantly different. © 2016 John Wiley & Sons, Ltd.