Article
Neonatal screening of cystic fibrosis: diagnostic problems with CFTR mild mutations.
Journal of inherited metabolic disease - 1 Aug 2007
Roussey M, Le Bihannic A, Scotet V, Audrezet M P, Blayau M, Dagorne M, David V, Deneuville E, Giniès J L, Laurans M, Moisan-Petit V, Rault G, Vigneron P, Férec C
Abstract excerpt
Newborn screening (NBS) of cystic fibrosis (CF) was implemented throughout the whole of France in 2002, but it had been established earlier in three western French regions. It can reveal atypical CF with one or two known CFTR mild mutations, with an uncertain evolution. The sweat test can be normal or borderline. In Brittany, from 1989 to 2004, 196 CF cases were diagnosed (1/2885 births). The incidence of...
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