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[New developments in neonatal screening].

Authors: Michel, M.; Cheillan, D.; Nguyen-Khoa, T.; Lachambre, S.; Lonlay, P., De; Arnoux, J. B.; Courapied, S.; +1 Authors

[New developments in neonatal screening].

Abstract

NEW DEVELOPMENTS IN NEONATAL SCREENING. The French national newborn screening program (NBS) celebrated its 50th anniversary in 2022. A few drops of blood are drawn between 48 and 72 hours of life for each newborn on a filter paper and entrusted to a Regional Center for Newborn Screening, which analyses it diligently. When the result is beyond a threshold, the baby and its parents are summoned to a specialized paediatric department. If the suspected disease is confirmed, specific care can be started in time to avoid or limit a disability. Each year, nearly 1.000 sick children are diagnosed by NBS in France, and treated in a specialized hospital team. The 2018 National Rare Disease Plan has relaunched the NBS process. Until then, 7 diseases whose hearing loss were detected. Since then, 7 other diseases have been added to the program, and others were recommended or are being assessed, opening a new page in the history of NBS in France.

Country
France
Keywords

Parents, [SDV]Life Sciences [q-bio], Deafness, S. Lachambre, 618, *Neonatal Screening, ponctuelles pour Ultragenyx, à l’occasion de déplacement pour congrès, Neonatal Screening, charge, déclarent n’avoir aucun lien d’intérêts. J.-B. Arnoux déclare des interventions, et avoir été pris en, 616, Humans, A. Khemiri et S. Courapied, Child, Humans, Child, Infant, Newborn, France, Infant, Neonatal Screening, *Neonatal Screening, *Deafness, charge, à l’occasion de déplacement pour congrès, par Immedica et Biomarin., déclarent n’avoir aucun lien d’intérêts. J.-B. Arnoux déclare des interventions, Parents, Polak, T. Nguyen-Khoa, S. Lachambre, P de Lonlay, A. Khemiri et S. Courapied, ponctuelles pour Ultragenyx, Rezolute, Immedica et Biomarin, et avoir été pris en, Polak, Infant, Newborn, Infant, T. Nguyen-Khoa, P de Lonlay, Newborn, Rezolute, [SDV] Life Sciences [q-bio], *Deafness, par Immedica et Biomarin., France, Immedica et Biomarin

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
0
Average
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