Metagenomic next-generation sequencing in pediatric infectious disease diagnosis: A comprehensive systematic literature review and meta-analysis

IF 1.8 4区医学 Q3 INFECTIOUS DISEASES

Diagnostic microbiology and infectious disease Pub Date : 2026-04-01 Epub Date: 2025-12-30 DOI:10.1016/j.diagmicrobio.2025.117248

Maria Celidonio Gutfreund , Gustavo Yano Callado , Isabele Pardo , Mariana Kim Hsieh , Patrícia Deffune Celeghini , Gabriel O.V. Lopes , Pedro S. Marra , Yan Runa Cheng , Takaaki Kobayashi , João Renato Rebello Pinho , José Roberto Generoso Jr , Lucas Bulgarelli , Eneida A Mendonça , Rodrigo Octávio Deliberato , Deyvid Emanuel Amgarten , Fernanda de Mello Malta , Michael B Edmond , Alexandre R. Marra

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引用次数: 0

Abstract

Background

Diagnosing pediatric infectious diseases is challenging due to nonspecific presentations, small sample volumes, and the limited sensitivity of conventional microbiological tests (CMTs). Metagenomic next-generation sequencing (mNGS) enables broad, hypothesis-free pathogen detection, but its diagnostic performance in children remains insufficiently characterized. This study evaluates the diagnostic accuracy of mNGS in pediatric infectious diseases and compares its performance with CMTs.

Methods

This systematic review and meta-analysis was registered in PROSPERO (CRD42024542444). Searches were performed using multiple databases through August 2024. Eligible studies evaluated mNGS and CMTs in pediatric patients (≤21 years) with suspected infectious diseases and compared their respective results with clinical diagnosis. Pooled sensitivity, specificity, and diagnostic odds ratios (DORs) were calculated using a bivariate random-effects model.

Results

Thirty-three studies (n = 4,165) met inclusion criteria, and nine were eligible for meta-analysis. Pooled sensitivity and specificity of mNGS versus clinical diagnosis were 0.84 (95% CI: 0.82–0.86) and 0.71 (95% CI: 0.66–0.75), respectively, compared with 0.40 (95% CI: 0.37–0.43) and 0.82 (95% CI: 0.78–0.86) for CMTs. The pooled DOR favored mNGS (18.6 vs. 5.4). Respiratory infections were most frequently investigated, followed by bloodstream and mixed infections. Over two-thirds of studies reported changes in antimicrobial management following mNGS results.

Conclusions

mNGS demonstrates superior sensitivity and diagnostic accuracy compared with CMTs, enabling comprehensive pathogen detection, including rare and co-infecting organisms, and informing targeted antimicrobial therapy. Despite limitations related to cost, complex interpretation, and methodological standardization, mNGS represents a promising complement to conventional diagnostics in pediatric infectious disease management.

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新一代宏基因组测序在儿科传染病诊断中的应用：一项全面系统的文献综述和荟萃分析

由于非特异性表现、小样本量和传统微生物检测（cmt）的有限敏感性，儿科传染病的诊断具有挑战性。新一代宏基因组测序（mNGS）能够实现广泛的、无假设的病原体检测，但其在儿童中的诊断性能仍未充分表征。本研究评估了mNGS对儿童传染病的诊断准确性，并将其与cmt的表现进行了比较。方法本系统评价和荟萃分析在PROSPERO注册（CRD42024542444）。到2024年8月，使用多个数据库执行搜索。符合条件的研究评估了疑似感染性疾病的儿科患者（≤21岁）的mNGS和cmt，并将各自的结果与临床诊断进行了比较。使用双变量随机效应模型计算合并敏感性、特异性和诊断优势比（DORs）。结果33项研究（n = 4165）符合纳入标准，其中9项符合meta分析。与临床诊断相比，mNGS的总敏感性和特异性分别为0.84 （95% CI: 0.82 - 0.86）和0.71 (95% CI: 0.66-0.75)，而CMTs的总敏感性和特异性分别为0.40 （95% CI: 0.37-0.43）和0.82 （95% CI: 0.78-0.86）。合并DOR有利于mNGS（18.6比5.4）。呼吸道感染是最常见的，其次是血液感染和混合性感染。超过三分之二的研究报告了mNGS结果后抗菌药物管理的变化。结论与CMTs相比，ngs具有更高的敏感性和诊断准确性，可用于全面的病原体检测，包括罕见和共感染的微生物，并为靶向抗菌治疗提供信息。尽管存在成本、解释复杂和方法标准化等方面的限制，但在儿科传染病管理中，mNGS是对传统诊断的一种有希望的补充。

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来源期刊

Diagnostic microbiology and infectious disease 医学-传染病学

CiteScore

5.30

自引率

3.40%

发文量

149

审稿时长

56 days

期刊介绍： Diagnostic Microbiology and Infectious Disease keeps you informed of the latest developments in clinical microbiology and the diagnosis and treatment of infectious diseases. Packed with rigorously peer-reviewed articles and studies in bacteriology, immunology, immunoserology, infectious diseases, mycology, parasitology, and virology, the journal examines new procedures, unusual cases, controversial issues, and important new literature. Diagnostic Microbiology and Infectious Disease distinguished independent editorial board, consisting of experts from many medical specialties, ensures you extensive and authoritative coverage.