Newborn screening for cystic fibrosis: Is there benefit for everyone?

Paediatr Respir Rev. 2019 Aug:31:3-5. doi: 10.1016/j.prrv.2019.02.003. Epub 2019 Feb 28.

Abstract

Newborn screening for cystic fibrosis (CF) has become a widely accepted and endorsed public health strategy in economically developed countries, although there is little consensus on optimal screening methods and gene panels. Increasing understanding of CFTR genetics and consequent unpredictability of phenotypic and clinical outcomes lead to diagnostic uncertainty, and emergence of Cystic Fibrosis Screen Positive Inconclusive Diagnosis (CF-SPID). Many of these children are clinically well or have a mild phenotype yet may still experience the psychosocial impact of a CF diagnosis. This questions the role of newborn screening and how best to manage those it identifies with CF-SPID.

Keywords: Cystic fibrosis; Genetics; Screening.

Publication types

  • Review

MeSH terms

  • Aminophenols / therapeutic use
  • Chloride Channel Agonists / therapeutic use
  • Chlorides / analysis
  • Cystic Fibrosis / diagnosis*
  • Cystic Fibrosis / drug therapy
  • Cystic Fibrosis / genetics
  • Cystic Fibrosis / physiopathology
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics
  • False Positive Reactions
  • Health Policy
  • Humans
  • Infant, Newborn
  • Mutation
  • Neonatal Screening*
  • Penetrance
  • Phenotype
  • Quinolones / therapeutic use
  • Risk Assessment
  • Sweat / chemistry

Substances

  • Aminophenols
  • CFTR protein, human
  • Chloride Channel Agonists
  • Chlorides
  • Quinolones
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • ivacaftor