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Updated: Jul 4, 2025

Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale
19:15

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Published on: August 25, 2014

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[New developments in neonatal screening].

Michel Michel1, David Cheillan2, Thao Nguyen-Khoa3

  • 1Service d'endocrinologie, gynécologie, diabétologie pédiatriques, coordonnateur du centre régional de dépistage néonatal (CRDN) d'Île-de-France, centre des maladies endocriniennes rares de la croissance et du développement, hôpital universitaire Necker-Enfants malades, AP-HP, université Paris-Cité, Inserm U1016, Institut Imagine, Paris, France.

La Revue Du Praticien
|January 31, 2024
PubMed
Summary

France

Keywords:
Neonatal Screening

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Area of Science:

  • Neonatal screening
  • Public health programs
  • Pediatric diagnostics

Context:

  • The French national newborn screening program (NBS) marked its 50th anniversary in 2022.
  • Newborn blood samples are analyzed for early disease detection.
  • Timely diagnosis prevents or limits disabilities in newborns.

Purpose:

  • To summarize recent advancements in France's national newborn screening program.
  • To highlight the expansion of the NBS program to include more diseases.
  • To discuss the impact of the 2018 National Rare Disease Plan on NBS.

Summary:

  • The French NBS program, established 50 years ago, screens newborns for genetic disorders using blood samples.
  • Recent updates have expanded the program beyond detecting hearing loss to include seven additional diseases, with more under review.
  • This expansion aims to improve early diagnosis and treatment for a wider range of rare childhood diseases.

Impact:

  • Nearly 1,000 sick children are diagnosed annually through the NBS program in France.
  • The program's evolution, driven by the 2018 National Rare Disease Plan, enhances early intervention capabilities.
  • Expanded screening protocols promise improved health outcomes for a greater number of infants with rare diseases.