Uncertain diagnosis after newborn screening for cystic fibrosis: An ethics-based approach to a clinical dilemma

Authors

  • John Massie MBBS, FRACP, PhD,

    Corresponding author
    1. Department of Respiratory Medicine, Royal Children's Hospital, Parkville, Victoria, Australia
    2. Murdoch Childrens Research Institute, Parkville, Victoria, Australia
    3. Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia
    4. Children's Bioethics Centre, Royal Children's Hospital, Parkville, Victoria, Australia
    • Correspondence to: John Massie, MBBS, FRACP, PhD, Department of Respiratory Medicine, Royal Children's Hospital Flemington Road, Parkville, Victoria 3052, Australia. E-mail: john.massie@rch.org.au

    Search for more papers by this author
  • Lynn Gillam BA, MA, PhD

    1. Murdoch Childrens Research Institute, Parkville, Victoria, Australia
    2. Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia
    3. Children's Bioethics Centre, Royal Children's Hospital, Parkville, Victoria, Australia
    Search for more papers by this author

  • John Massie and Lynn Gillam contributed equally to this work.
  • Conflict of interest: None.

Summary

There is uncertainty about the diagnosis of cystic fibrosis after newborn screening (NBS) for some babies, either because of an intermediate sweat chloride test or inconclusive gene mutation analysis. There is considerable difficulty knowing how best to manage these babies, some of whom will develop cystic fibrosis, but many not. This article offers an ethics-based approach to this clinical dilemma that should be helpful to clinicians managing the baby with an uncertain diagnosis of cystic fibrosis after NBS. Pediatr Pulmonol. 2014; 49:1–7. © 2013 Wiley Periodicals, Inc.

Ancillary