Funding sources: This study was funded by Guangzhou Health Bureau Key Project (201102A212026), National Natural Science Foundation of China (81100435), Guangzhou Science and Technology Bureau Project (201300000086) and Guangdong Provincial Medical Research Foundation (A2013515).
Prenatal diagnosis of congenital heart defect by genome-wide high-resolution SNP array
Article first published online: 10 MAY 2014
© 2014 John Wiley & Sons, Ltd.
Volume 34, Issue 9, pages 858–863, September 2014
How to Cite
2014), Prenatal diagnosis of congenital heart defect by genome-wide high-resolution SNP array, Prenat Diagn, 34: 858–863. DOI: 10.1002/pd.4383, , , , , , , and (
Conflicts of interest: None declared
- Issue published online: 2 SEP 2014
- Article first published online: 10 MAY 2014
- Accepted manuscript online: 9 APR 2014 09:56AM EST
- Manuscript Accepted: 6 APR 2014
- Manuscript Revised: 5 MAR 2014
- Manuscript Received: 14 NOV 2013
This study aimed to detect genomic imbalances in fetuses with congenital heart defect (CHD) by high-resolution single-nucleotide polymorphism (SNP) array.
A total of 99 fetuses with CHDs with or without other ultrasound anomalies (including structural anomalies and soft markers) but normal karyotypes were investigated using Affymetrix CytoScan HD array.
Clinical significant copy number variations (CNVs) were detected in 19 fetuses (19.2%). The proportion for variants of unknown significance was 3% after parental analysis. Five known microdeletion/microduplication syndromes were identified. The detection rate in CHD plus structural anomaly (27.8%) or soft marker (25%) group was higher than but not statistically different from isolated CHD group (15.9%). There was no significant difference between the detection rates in simple and complex CHD groups (20.7% vs. 16.7%). The detection rate in fetuses with CHD and neurologic defect was significantly higher than those with other types of structural anomaly (75% vs. 14.3%, P < 0.05).
Our results demonstrated the value of high-resolution SNP arrays in prenatal diagnosis of CHD; it should become an integral aspect in clinically molecular diagnosis and genetic counseling. The complexity of the cardiac defect was not related to the frequency of clinical significant CNV, but the presence of neurologic defect was related. © 2014 John Wiley & Sons, Ltd.