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

Role of the CF Center

Patients with a suspected diagnosis of CF should be referred to the local specialists CF Centre with an appropriate multidisciplinary team (MDT) and experience in undertaking specialist investigations such as sweat tests and CF microbiology according to national and international guidelines.[138,139] Diagnosing CF has become more challenging due to the diverse spectrum of genotype and phenotype expression. Extensive experience and up-to-date knowledge are often needed to characterize difficult cases where the diagnosis is not straight forward. There should be full access to an experienced MDT and psychology support where appropriate. Electrophysiological investigations such as NPD and ICM (see Diagnostic Tools) should only be undertaken in centers with considerable experience of the procedure.[138]