Analysis of genomic copy number variations in fetuses with conotruncal defects using single nucleotide polymorphism array.
- Author:
Jin WANG
1
;
Yan ZHAO
;
Hua JIN
;
Jing TAO
;
Luquan CAO
;
Yan CAI
Author Information
- Publication Type:Journal Article
- From: Chinese Journal of Medical Genetics 2018;35(3):347-350
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo assess the value of single nucleotide polymorphism array (SNP array) for the study of fetuses with conotruncal defects (CTD) detected by echocardiography.
METHODSSNP array was carried out on 75 fetuses with sonographically detected CTD but a normal karyotype. The results were analyzed with ChAS software.
RESULTSPathogenic CNVs were detected in 7 (9.3%) of all cases. Variant of uncertain significance (VOUS) was detected in 2 (2.7%) cases. Benign CNVs were detected in 19 (25.3%) cases.
CONCLUSIONSNP array is an effective method for delineating the etiology of fetuses with CTD, particularly for those with a normal karyotype.
