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 Férec, 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

160 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)153-173
Number of pages21
JournalJournal of Cystic Fibrosis
Volume8
Issue number3
DOIs
StatePublished - May 2009
Externally publishedYes

Bibliographical note

Funding Information:
The organisers of the Consensus Conference would like to acknowledge support from EuroCareCF (LSHM-CT-2005-018932), the International Society for Neonatal Screening, the European Molecular Genetics Quality Network and EuroGentest. We also want to thank all CF organisations and commercial companies which supported the meeting: US CF Foundation, Mukoviszidose-ev, Vaincre la Mucoviscidose, Chiesi Farmaceutici, Wescor, Abbott Diagnostics, PerkinElmer, Innogenetics, Whatman, Nuclear Laser Medicine. Milan Macek was supported by grant VZFNM00064203.

Keywords

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

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