Related Experiment Video
Updated: Jul 4, 2025
19:15
Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale
Published on: August 25, 2014
86.0K
[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
Summary
France
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.
Keywords:
Neonatal Screening
