Elsevier

Journal of Cystic Fibrosis

Volume 18, Issue 6, November 2019, Pages 778-780
Journal of Cystic Fibrosis

Short Communication
Inconclusive diagnosis after a positive newborn bloodspot screening result for cystic fibrosis; clarification of the harmonised international definition

https://doi.org/10.1016/j.jcf.2019.04.010Get rights and content
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Highlights

  • Newborn bloodspot screening (NBS) for cystic fibrosis (CF) has been a successful public health strategy.

  • Occasionally a positive NBS result is associated with an inconclusive diagnosis.

  • Infants in this situation may be mislabelled.

  • Accurate designation of infants after NBS for CF is important to ensure appropriate management.

  • In some cases, the diagnosis remains inconclusive and the international designation, Cystic Fibrosis Transmembrane Conductance Regulator-Related Metabolic Syndrome/CF Screen Positive, Inconclusive Diagnosis (CRMS/CFSPID), should be used.

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