Newborn screening for cystic fibrosis

Abstract

Newborn screening (NBS) for cystic fibrosis (CF) has evolved considerably from its beginnings. We review the early history of NBS in the USA and the evolution of CF NBS from its conception in observational studies, to the development of mass-screening methodology in the 1970s, and to its early applications in the USA and other countries. We review the development of current CF NBS algorithms, particularly the development of those used in the Wisconsin randomized controlled trial, and discuss the comparative utility of different algorithms. We also discuss the identified nutritional and respiratory benefits of CF NBS, discuss treatment strategies for newborns identified with CF, and also discuss opportunities for slowing the progression of this disease.