La Revue du praticien · 2023
[New developments in neonatal screening].
Аннотация на английскомСтатьяНазвание и аннотация: Перевод пока не подготовлен
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Polak Michel, Cheillan David, Nguyen-Khoa Thao, Lachambre Sandrine, de Lonlay Pascale, Arnoux Jean-Baptiste, Courapied Sandy, Khemiri Azza
Аннотация
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.