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Updated: Jul 28, 2025

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Diagnostic Performance and Clinical Impact of Metagenomic Next-Generation Sequencing for Pediatric Infectious

Yunqian Zhu1, Mingyu Gan2,3, Mengmeng Ge1

  • 1Department of Neonatology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, People's Republic of China.

Journal of Clinical Microbiology
|June 1, 2023
PubMed

Insights

Metagenomic next-generation sequencing (mNGS) significantly improves pediatric infection diagnosis by showing higher positive agreement than conventional tests. This advanced method aids clinical management, especially for immunocompromised children.

Area of Science:

  • Infectious Diseases
  • Genomics
  • Pediatrics

Background:

  • Metagenomic next-generation sequencing (mNGS) shows promise for adult infectious disease diagnosis.
  • Its effectiveness in pediatric populations is less understood.
  • Pediatric infections require accurate and rapid diagnostic tools.

Purpose of the Study:

  • To evaluate the diagnostic performance of mNGS in pediatric infections.
  • To compare mNGS with conventional microbiological tests (CMT).
  • To assess the clinical impact of mNGS in pediatric patients.

Main Methods:

  • Retrospective analysis of 1,493 mNGS samples from pediatric patients.
  • Comparison of mNGS results with clinical diagnosis and CMT.
  • Evaluation of positive percent agreement (PPA) and negative percent agreement (NPA).

Main Results:

  • mNGS demonstrated a significantly higher overall PPA (53.1%) compared to CMT (25.8%).
  • Overall NPA was comparable between mNGS (93.2%) and CMT (97.2%).
  • mNGS identified key pathogens like Streptococcus pneumoniae and Mycobacterium tuberculosis complex, with a 14.0% positive clinical impact, higher in immunocompromised children.

Conclusions:

  • mNGS is a valuable tool for pathogen detection and diagnosis in pediatric infections.
  • It effectively guides clinical management, particularly for immunocompromised pediatric patients.
  • mNGS offers improved diagnostic accuracy over CMT for pediatric infectious diseases.
Keywords:
clinical applicationdiagnosisinfectionmNGSpediatric

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