Analysis of genomic copy number variations in fetuses with conotruncal defects using single nucleotide polymorphism array / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To assess the value of single nucleotide polymorphism array (SNP array) for the study of fetuses with conotruncal defects (CTD) detected by echocardiography.</p><p><b>METHODS</b>SNP array was carried out on 75 fetuses with sonographically detected CTD but a normal karyotype. The results were analyzed with ChAS software.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>SNP array is an effective method for delineating the etiology of fetuses with CTD, particularly for those with a normal karyotype.</p>