Abstract
Introduction: Survival in Cystic Fibrosis (CF) is permanently increasing due to several factors, in particular the CF early diagnosis by implementation of the Newborn Screening Program (NBSP). In Spain, the NBSP was launched in 1999 in Catalonia, Castilla-León and Balearic Islands and in 2015 has been expanded to all communities.
Objective: to describe the data of the NBSP of the different autonomous communities (ACs) in Spain.
Method: Retrospective data from the NBSP through a survey sent to the 12 ACs that screening was already available in the year 2014.
Resultados: in Spain the NBSP has been applied globally to nearly 3,000,000 newborns detecting 460 cases with CF. Examples of incidence are: Catalonia 1 / 6631; Castilla y León 1/5007, Balearic Islands 1/5853, Madrid 1 / 6160, Basque Country 1 / 7,700. Three different strategies for NBSP have been implemented: 1) TIR TIR + sweat test in three ACs ; 2) TIR TIR + genetic test + sweat test: in five; 3) TIR + genetic test in seven. The three most frequent identified mutations were: F508del, G542X and N1303K. The average age of diagnosis was within 50 days of life except in a community that one diagnosis was made after 2 months. The presence of pancreatic insufficiency ranged from 40% to 80%; Pseudomonas aeruginosa chronic infection from 0 to 20% and Staphylococcus aureus from 0 to 40%.
Conclusion: this is the first global data of NBSP for CF in Spain. Results from the different programs provide an opportunity to compare all current strategies and results.
- Copyright ©the authors 2016