OBJECTIVE: This study aimed to detect genomic imbalances in fetuses with congenital heart defect (CHD) by high-resolution single-nucleotide polymorphism (SNP) array. METHODS: 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. RESULTS: 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). CONCLUSIONS: 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.
OBJECTIVE: This study aimed to detect genomic imbalances in fetuses with congenital heart defect (CHD) by high-resolution single-nucleotide polymorphism (SNP) array. METHODS: 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. RESULTS: 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). CONCLUSIONS: 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.
Authors: Ivan Y Iourov; Svetlana G Vorsanova; Maria A Zelenova; Sergei A Korostelev; Yuri B Yurov Journal: Int J Genomics Date: 2015-09-01 Impact factor: 2.326
Authors: Lijuan Sun; Qingqing Wu; Shi-Wen Jiang; Yani Yan; Xin Wang; Juan Zhang; Yan Liu; Ling Yao; Yuqing Ma; Li Wang Journal: Biomed Res Int Date: 2015-05-12 Impact factor: 3.411
Authors: Han Jin; Cui Yingqiu; Liu Zequn; Huang Yanjun; Zhang Yunyan; Zhao Shufan; Chen Yiyang; Li Ru; Zhen Li; Zhang Yongling; Wang Hongtao; Liao Can Journal: Medicine (Baltimore) Date: 2018-08 Impact factor: 1.817