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


The benefits of CF NBS are well established and range across numerous parameters, namely:

  • Early detection and diagnosis.[9]

  • No long journey to diagnosis.[10–12]

  • Improved opportunity for informed decision regarding future pregnancies.[13–17]

  • Reduced electrolyte abnormalities and edema.[18]

  • Improved nutrition.[9,19–22]

  • Reduced vitamin E deficiency.[23]

  • Improved cognitive functioning[23,24]

  • Improved Schwachman scores.[19,25]

  • Reduced hospitalization.[26]

  • Reduced intravenous antibiotics.[27]

  • Reduced treatment burden.[27]

  • Improved lung function.[19,25,28]

  • Improved Chest X-rays (CXR) appearance.[19,20,25,26,29]

  • Reduced acquisition of Pseudomonas aeruginosa.[20]

  • Improved survival.[2,25,26,28,30,31]

  • Improved cost efficiency.[32–38]