Cystic Fibrosis Diagnosis in Newborns, Children, and Adults

Carlo Castellani, MD; Barry Linnane, MB, BCh, BAO, DCH, MRCPI, MRCPCH, MD; Iwona Pranke, PhD; Federico Cresta, MD; Isabelle Sermet-Gaudelus, MD, PhD; Daniel Peckham, MD


Semin Respir Crit Care Med. 2019;40(6):701-714. 

In This Article

Newborn Screening

CF newborn screening (NBS) is a public health strategy of proven benefit, with early identification of affected infants an established aspect of modern CF care.[6] CF NBS fulfils the criteria set out by Wilson and Jungner for a condition suitable for screening, based on the program's ability to detect the condition early, prior to clinical presentation, the opportunity to initiate effective treatment that can alter the disease progression, an acceptable testing method, along with other criteria.[7] CF NBS does not diagnose infants with CF, but instead screens the entire population of newborn infants to identify a cohort at increased risk of CF and present these for early clinical assessment and diagnostic testing.[8]