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

Development of CF NBS

The success of CF NBS has resulted in rapid expansion in recent years.[45–47] However, the concept is not new. Destruction of the exocrine pancreas was identified early in the description of the condition as a cardinal feature explaining the growth failure seen as an early manifestation of CF.[48] Pioneers in the area of CF NBS explored measurement of exocrine pancreatic function, such as increased albumin content or reduced trypsin levels in the meconium of newborn infants, to detect cases.[49–53] These processes had some merits but lacked sensitivity and specificity and were superseded by the demonstration by Crossley et al., in New Zealand, that levels of serum trypsin, measured by radioimmunoassay (immunoreactive-trypsinogen [IRT])in dried bloodspot samples taken from neonates, were abnormally high in infants with CF.[54,55] This has remained the principal initial assay in all modern CF NBS programmes.[45–47]