Medicina Neonatal e Pediátrica

Abstrato

Newborn Screening for Cystic Fibrosis in Genetically Heterogeneous Populations

Alejandro Teper, Viviana Rodríguez

Cystic fibrosis is the most frequent autosomal recessive disease in Caucasians. Survival improves with the implementation of newborn screening programs that enable early detection and rapid initiation of treatment to reduce the effects of the disease. Not all available algorithms for newborn screening are suitable for all populations. IRT/PAP is the algorithm of choice in genetically heterogeneous populations.