European best practice guidelines for cystic fibrosis neonatal screening

Carlo Castellani, Kevin W. Southern, Keith Brownlee, Jeannette Dankert Roelse, Alistair Duff, Michael Farrell, Anil Mehta, Anne Munck, Rodney Pollitt, Isabelle Sermet-Gaudelus, Bridget Wilcken, Manfred Ballmann, Carlo Corbetta, Isabelle de Monestrol, Philip Farrell, Maria Feilcke, Claude Ferec, Silvia Gartner, Kevin Gaskin, Jutta HammermannNataliya Kashirskaya, Gerard Loeber, Milan Macek, Gita Mehta, Andreas Reiman, Paolo Rizzotti, Alec Sammon, Dorota Sands, Alan Smyth, Olaf Sommerburg, Toni Torresani, Georges Travert, Annette Vernooij, Stuart Elborn

    Research output: Contribution to journalReview articlepeer-review

    190 Citations (Scopus)


    There is wide agreement on the benefits of NBS for CF in terms of lowered disease severity, decreased burden of care, and reduced costs. Risks are mainly associated with disclosure of carrier status and diagnostic uncertainty. When starting a NBS programme for CF it is important to take precautions in order to minimise avoidable risks and maximise benefits.

    In Europe more than 25 screening programmes have been developed.. with quite marked variation in protocol design. However, given the wide geographic, ethnic, and economic variations, complete harmonisation of protocols is not appropriate. There is little evidence to Support the use of IRT alone as a second tier, without involving DNA mutation analysis. However, if IRT/DNA testing does not lead to the desired specificity/sensitivity ratio in a population, a screening programme based on IRT/IRT may be used.

    Sweat chloride concentration remains the gold standard for discriminating between NBS false and true positives, but age-related changes in sweat chloride should be taken into account. CF phenotypes associated with less severe disease often have intermediate or normal sweat chloride concentrations. Programmes should include arrangements for counselling and management of infants where the diagnosis is not clear-cut.

    All newborns identified by NBS should be managed according to internationally accepted guidelines. CF centre care and the availability of necessary medication are essential prerequisites before the introduction of NBS Programmes.

    Clear explanation to families of the process of screening and of implications of normal and abnormal results is central to the success of CF NBS programmes. Effective communication is especially important when parents are told that their child is affected or is a carrier. When establishing a NBS programme for CF, attention should be given to ensuring timely and appropriate processing of results, to minimise potential stress for families. (C) 2009 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.

    Original languageEnglish
    Pages (from-to)153-173
    Number of pages21
    JournalJournal of Cystic Fibrosis
    Issue number3
    Publication statusPublished - May 2009


    • Cystic fibrosis
    • Neonatal screening
    • Diagnosis
    • Immunoreactive trypsinogen
    • Sweat test


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