Division of Neonatology, Children's Hospital of Fudan University, Shanghai, China.
Center for Molecular Medicine, Children's Hospital of Fudan University, Shanghai, China.
Expert Rev Mol Diagn. 2022 Aug;22(8):833-840. doi: 10.1080/14737159.2022.2123704. Epub 2022 Sep 12.
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.
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.
Twenty-three studies, comprising 1567 critically ill infants were included in the meta-analysis. In the overall analysis, the pooled diagnostic utility of rapid genomic sequencing was 0.42 (95% CI: 0.37-0.49, I = 79%, < 0.1). Moreover, the pooled diagnostic rates of rapid whole-exome and rapid whole-genome sequencing were 0.50 (95% CI: 0.41-0.61; I = 74%; P < 0.01) and 0.37 (95% CI: 0.30-0.46; I = 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.
This meta-analysis proved that rapid genomic sequencing has a good diagnostic utility for critically ill infants.
遗传疾病是危重症婴儿死亡的主要原因。有几项研究评估了快速基因组测序在危重症婴儿中的诊断效果。本荟萃分析旨在总结快速基因组测序在危重症婴儿中的诊断效用。
检索了 PubMed、Scopus、Web of Science 和 Cochrane Library 数据库，截至 2022 年 7 月 1 日之前的研究。选择报告了快速基因组测序在危重症婴儿中的诊断率的研究。两名作者筛选并提取了有关基因检测方法、总患者数和确诊患者数的数据。
23 项研究，包括 1567 名危重症婴儿，纳入了荟萃分析。总体分析中，快速基因组测序的综合诊断效用为 0.42（95%CI：0.37-0.49，I = 79%，<0.1）。此外，快速全外显子组测序和快速全基因组测序的综合诊断率分别为 0.50（95%CI：0.41-0.61；I = 74%；P<0.01）和 0.37（95%CI：0.30-0.46；I = 77%；P<0.01）。敏感性分析表明，总体分析结果稳定。此外，总体分析中未观察到发表偏倚。
本荟萃分析证明了快速基因组测序对危重症婴儿具有良好的诊断效用。
