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What is cystic fibrosis screen positive inconclusive diagnosis? And what is it not?
  1. Emily Devoy1,
  2. Dominic Hughes2,3,
  3. Asma Falah Alharbi4,5,
  4. Jacqueline Francis6,
  5. Jane C Davies6,7
  1. 1 Chelsea and Westminster Hospital NHS Foundation Trust, London, UK
  2. 2 Paediatric Respiratory Medicine, King's College Hospital NHS Foundation Trust, London, UK
  3. 3 National Heart and Lung Institute, Imperial College London, London, UK
  4. 4 Imperial College London, London, UK
  5. 5 Department of Respiratory Care, Prince Sultan Military College of Health Sciences, Dammam, Saudi Arabia
  6. 6 Royal Brompton Hospital, London, UK
  7. 7 Imperial College London, National Heart and Lung Institute, London, UK
  1. Correspondence to Emily Devoy; emily.devoy4{at}nhs.net

Abstract

Since screening for cystic fibrosis (CF) was incorporated into the newborn screening program, the number of recognised variants in the CF transmembrane conductance regulator (CFTR) gene has significantly increased. This has led to the discovery of combinations of gene variants with an uncertain prognosis. One outcome is the designation of ‘cystic fibrosis screen positive inconclusive diagnosis’ (CFSPID). While the majority of these children are expected to be unaffected by their CFTR variants, a small proportion have been seen to develop symptoms or increasing sweat chloride levels over time, which may reflect dysfunction of the CFTR protein.

As the number of children with CFSPID increases, paediatricians and those working in primary care are more likely to encounter them in their practice. It is important that professionals have an understanding of CFSPID: what it is and, importantly, what it is not (ie, they do not have CF). In this article, we hope to explore this using some example cases, illustrating the ways in which these children may present symptomatically and how to manage them.

  • Cystic Fibrosis
  • Child Health
  • Respiratory Medicine

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Footnotes

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer-reviewed.