Molecular Diagnostic Yield of Exome Sequencing and Genome Sequencing in Critically Ill Neonates and Infants: A Systematic Review and Meta-Analysis.

Meta-analysis of ES/GS diagnostic yield in neonatal critical care

This systematic review and meta-analysis evaluates the diagnostic yield of exome (ES) and genome sequencing (GS) in critically ill neonates and infants. The combined overall yield is 39.4%, confirming the major clinical utility of next-generation sequencing in this setting, with factors associated with higher yield identified.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

A 39.4% yield in neonatal critical care is among the highest in clinical genetics. This meta-analysis consolidates evidence for systematic rapid sequencing at NICU admission.

Clinical impact: 3/3 · Evidence strength: 3/3 · Novelty: 1/2 · Sample size: 1/1 · Publication status: 1/1 → Total: 9/10