Cystic Fibrosis Newborn Screening

Abstract

Cystic fibrosis (CF) newborn screening (NBS) results in earlier diagnosis of CF and better clinical outcomes. The goal of CF NBS is achievement of a timely, equitable diagnosis for all affected individuals. This article outlines CF NBS processes and algorithms, testing and clinical outcomes, and future needs. Challenges to optimal implementation of CF NBS include wide variation in state CF NBS protocols, identification of infants with inconclusive diagnostic testing, timely evaluation and treatment of all newborns with CF, and the need for primary provider and family education, as well as partnership with CF centers and state programs.

Keywords: Cystic fibrosis; Fetal therapy; Genetics; Newborn screening.