Abstract
(Abstracted from Genet Med 2021;23:909–917) At present, it is recommended that chromosomal microarray (CMA) be offered in cases of fetal congenital anomalies. However, 60% to 70% of these cases do not receive a genetic diagnosis following microarray, and exome sequencing is being used more frequently in these cases with a reported diagnostic yield of approximately 10% to 30%.
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