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Journal Articles médecine/sciences Year : 2021

[Newborn screening for cystic fibrosis in France]

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Abstract

Neonatal screening for cystic fibrosis has optimised the prognosis for patients allowing very early multidisciplinary care. Over the past 20 years, screening programmes have undergone major international expansion. The performances of the French neonatal cystic fibrosis screening programme, established in 2002, has met European guideline standards, with positive predictive value of 0.31 (against a minimum of 0.30) and sensitivity value of 0.95 (against a minimum of 0.95). It is also important to highlight the very high percentage of sweat tests performed (95.5%), of mutations identified (96.6%), the 9:1 ratio of cystic fibrosis cases to cases of inconclusive diagnosis achieved and the effectiveness of the strategy implemented for the detection of false negative cases. A new organisation for cystic fibrosis neonatal screening has now been established in France. It is vital that effectiveness is maintained throughout the process, from newborn maternity care to diagnosis in cystic fibrosis care centres, and that further knowledge is gained through exhaustive data collection and validation.

Dates and versions

inserm-03344375 , version 1 (15-09-2021)

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A. Munck, D. Cheillan, M. P. Audrezet, D. Guénet, F. Huet. [Newborn screening for cystic fibrosis in France]. médecine/sciences, 2021, 37 (5), pp.491-499. ⟨10.1051/medsci/2021051⟩. ⟨inserm-03344375⟩
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