
This study aimed to assess the increased diagnostic effectiveness of exome sequencing (ES) after negative chromosomal microarray analysis (CMA) in prenatal cases of agenesis of the corpus callosum (ACC). A systematic search identified 28 relevant studies with 285 cases that underwent ES post-negative CMA. The meta-analysis of 15 studies (267 cases) revealed a 43% positive or likely positive ES yield across all cases. The highest yield was in ACC cases with extracranial anomalies (55%), followed by ACC with other cranial anomalies (43%), and isolated ACC (32%). This suggests ES improves diagnostic accuracy in prenatally diagnosed ACC, particularly in cases with associated anomalies.
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