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Evaluation Studies
Journal Article
[Analysis of genomic copy number variations in fetuses with conotruncal defects using single nucleotide polymorphism array].
Zhonghua Yi Xue Yi Chuan Xue za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics 2018 June 11
OBJECTIVE: To assess the value of single nucleotide polymorphism array (SNP array) for the study of fetuses with conotruncal defects (CTD) detected by echocardiography.
METHODS: SNP array was carried out on 75 fetuses with sonographically detected CTD but a normal karyotype. The results were analyzed with ChAS software.
RESULTS: Pathogenic 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.
CONCLUSION: SNP array is an effective method for delineating the etiology of fetuses with CTD, particularly for those with a normal karyotype.
METHODS: SNP array was carried out on 75 fetuses with sonographically detected CTD but a normal karyotype. The results were analyzed with ChAS software.
RESULTS: Pathogenic 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.
CONCLUSION: SNP array is an effective method for delineating the etiology of fetuses with CTD, particularly for those with a normal karyotype.
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