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This study evaluated the effectiveness of prenatal genetic testing using trio whole exome sequencing (WES) and trio whole genome sequencing (WGS) compared to conventional chromosomal microarray (CMA) analysis. Results showed that WES/WGS increased the diagnostic yield by 25% in cases with negative CMA results and identified all chromosomal aberrations found by CMA. Overall, 16 out of 40 cases obtained a genetic variant explaining the phenotype, resulting in a diagnostic yield of 40%. Prenatal WES/WGS has the potential to be a standalone method for prenatal diagnosis, surpassing the yield of CMA.
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