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Newborn screening for CF – The good, the bad and the ugly

  • Juerg Barben
    Correspondence
    Corresponding author at: Chair ECFS Neonatal Screening Working Group, Head, Paediatric Pulmonology & CF Centre, Children's Hospital of Eastern Switzerland, CH-9006 St. Gallen, Switzerland.
    Affiliations
    Chair of the European CF Society (ECFS) Neonatal Screening Working Group, Paediatric Pulmonology and CF Centre, Children's Hospital of Eastern Switzerland, St. Gallen, Switzerland
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  • John Massie
    Affiliations
    Department of Respiratory Medicine and Children's Bioethics Centre, Royal Children's Hospital, Department of Paediatrics, University of Melbourne, Murdoch Children's Research Institute, Melbourne, Australia
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Published:January 23, 2023DOI:https://doi.org/10.1016/j.jcf.2023.01.011
      The main goal of newborn screening (NBS) programs is to detect infants with a treatable disease early, in order to initiate treatment [
      • Wilson J.M.G.
      • Jungner G.
      Principles and Practice of Screening for Disease.
      ]. This noble endeavour seemed straightforward when initially proposed when the spectrum of disease manifestation from gene mutations (or anticipated gene mutations for a disease like cystic fibrosis (CF) which was known to be inherited) was thought to be all or none. We now know the situation is more complicated, with clinical manifestations resulting from mutations in the CF transmembrane conductance regulator (CFTR) gene ranging from “classic” pancreatic insufficient CF to CFTR-related disorder or none at all. In an era in which technology enables new options for CF NBS it is essential to re-evaluate the goals of screening. In this issue of the Journal there are two papers about the diagnosis of CF which at face value seem to ask different questions, but are both probing a bigger question, how should we diagnose CF from NBS?
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