Implementation of the French Nationwide Cystic Fibrosis Newborn Screening Program

Neonatal screening for cystic fibrosis in São Paulo State, Brazil: a pilot study

“…In recent years, there has been an increase in the number of CF screening programs around the world (9). However, newborn screening for CF has been hotly debated because of the lack of a definitive test for CF screening (15) and some concerns about the long-term benefits of these programs (10,(16)(17)(18)(19)(20)(21)(22)(23).…”

Sweat test practice in pediatric pulmonology after introduction of cystic fibrosis newborn screening

“…Cystic fibrosis (CF) is the most frequent and severe genetic disease among European and North American populations, with an incidence of 1/4136 newborns in France [19]. Among its many consequences, respiratory disease is the major cause of morbidity and mortality [14,21].…”

Modelling future trends in cystic fibrosis demography using the French Cystic Fibrosis Registry: update and sensitivity analysis

“…The comparison of published forecast versus observed data for 2015 confirms that our forecasted increase by +27.4% was rather accurate as the observed data showed an increase by +29.3% (n=797) in adult patients between 2010 and 2015 (table 1). For the paediatric population, our forecast predicted an increase by 8.3%, whereas the observed 2015 data showed that the CF paediatric population remained stable [3,4]. The decrease in the overall number of new diagnoses of paediatric CF patients was in part the result of a true decrease in CF incidence, presumably because of genetic counselling after the diagnosis of a CF case, and to an increase in the registry coverage rate before 2006, which may have resulted in capturing previously diagnosed cases of paediatric CF that had not been reported to the registry.…”