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

Earlier Detection of CF

There is significant variability in the age at diagnosis of CF.[39–41] Jackson et al reported an average age at diagnosis, excluding those with meconium ileus and a family history, of 11 months. This is dependent on the symptom complex the child has, with those with only respiratory symptoms presenting on average at 20.4 months, those with respiratory and gastrointestinal symptoms at 9.2 months, and those with only gastrointestinal symptoms at 9.0 months.[41] However, evidence of malnutrition can begin to manifest as early as 2 weeks of age.[42] Sims et al used UK registry data to demonstrate that infants diagnosed after 2 months age have worse outcomes than infants diagnosed and receiving care earlier.[43] These observations have led to the aim of "early" diagnosis being less than 2 months age, and ideally less than 1 month of age.[44]