03Aug 2023
Diagnostic Yield of Exome Sequencing in Prenatal Agenesis of Corpus Callosum: A Systematic Review and Meta‐analysis

Diagnostic Yield of Exome Sequencing in Prenatal Agenesis of Corpus Callosum: A Systematic Review and Meta‐analysis

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.

  • #gynaecology - ivf

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