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Next-generation sequencing in newborn screening: Current status, challenges, and future perspectives.

Zhelan Huang1, Wenhao Zhou2,3

  • 1Division of Neonatology Children's Hospital of Fudan University Shanghai China.

Pediatric Investigation
|February 23, 2026
PubMed
Summary

Genomic newborn screening (gNBS) advances early disease detection, improving child health. This review highlights the shift from biochemical to genetic methods and discusses global gNBS implementation challenges and collaborations.

Keywords:
Genomic newborn screeningNewborn screeningNext‐generation sequencing

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