Cystic Fibrosis: 15 Years of Experience in Newborn Screening in Uruguay

Cystic fibrosis (CF) is a severe autosomal recessive genetic disorder caused by variants in the CFTR gene, affecting multiple organ systems, primarily the respiratory and digestive tracts. In Uruguay, a newborn screening (NBS) program for CF was established in 2010. This work presents a retrospective study of the results obtained since CF screening was incorporated to the program until March 2025. Data from IRT, PAP, sweat tests, and molecular analyses were evaluated.