Diagnostic utility of rapid sequencing in critically ill infants: a systematic review and meta-analysis

BACKGROUND: Genetic disorders are a major cause of death in critically ill infants. Several studies have assessed the diagnostic yield of rapid genomic sequencing in critically ill infants. This meta-analysis aimed to summarize the diagnostic utility of rapid genomic sequencing in critically ill infants. METHODS: PubMed, Scopus, Web of Science, and Cochrane Library, were searched before 1 July 2022. Studies reported diagnostic rate of rapid genomic sequencing in critically ill infants were selected. Two authors screened and extracted data regarding the method of genetic test, total number of patients, and number of diagnosed patients. RESULTS: = 77%; P < 0.01), respectively. Sensitive analysis showed that the results were stable in the overall analysis. Additionally, publication bias was not observed in the overall analysis. CONCLUSIONS: This meta-analysis proved that rapid genomic sequencing has a good diagnostic utility for critically ill infants.