title: European best practice guidelines for cystic fibrosis neonatal screening.
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.
authors.affiliation: Verona Cystic Fibrosis Centre, Italy. carlo.castellani@azosp.vr.it
authors.forename: Carlo
authors.initials: C
authors.lastname: Castellani
authors.forename: Kevin W
authors.initials: KW
authors.lastname: Southern
authors.forename: Keith
authors.initials: K
authors.lastname: Brownlee
authors.forename: Jeannette
authors.initials: J
authors.lastname: Dankert Roelse
authors.forename: Alistair
authors.initials: A
authors.lastname: Duff
authors.forename: Michael
authors.initials: M
authors.lastname: Farrell
authors.forename: Anil
authors.initials: A
authors.lastname: Mehta
authors.forename: Anne
authors.initials: A
authors.lastname: Munck
authors.forename: Rodney
authors.initials: R
authors.lastname: Pollitt
authors.forename: Isabelle
authors.initials: I
authors.lastname: Sermet-Gaudelus
authors.forename: Bridget
authors.initials: B
authors.lastname: Wilcken
authors.forename: Manfred
authors.initials: M
authors.lastname: Ballmann
authors.forename: Carlo
authors.initials: C
authors.lastname: Corbetta
authors.forename: Isabelle
authors.initials: I
authors.lastname: de Monestrol
authors.forename: Philip
authors.initials: P
authors.lastname: Farrell
authors.forename: Maria
authors.initials: M
authors.lastname: Feilcke
authors.forename: Claude
authors.initials: C
authors.lastname: Férec
authors.forename: Silvia
authors.initials: S
authors.lastname: Gartner
authors.forename: Kevin
authors.initials: K
authors.lastname: Gaskin
authors.forename: Jutta
authors.initials: J
authors.lastname: Hammermann
authors.forename: Nataliya
authors.initials: N
authors.lastname: Kashirskaya
authors.forename: Gerard
authors.initials: G
authors.lastname: Loeber
authors.forename: Milan
authors.initials: M
authors.lastname: Macek
authors.forename: Gita
authors.initials: G
authors.lastname: Mehta
authors.forename: Andreas
authors.initials: A
authors.lastname: Reiman
authors.forename: Paolo
authors.initials: P
authors.lastname: Rizzotti
authors.forename: Alec
authors.initials: A
authors.lastname: Sammon
authors.forename: Dorota
authors.initials: D
authors.lastname: Sands
authors.forename: Alan
authors.initials: A
authors.lastname: Smyth
authors.forename: Olaf
authors.initials: O
authors.lastname: Sommerburg
authors.forename: Toni
authors.initials: T
authors.lastname: Torresani
authors.forename: Georges
authors.initials: G
authors.lastname: Travert
authors.forename: Annette
authors.initials: A
authors.lastname: Vernooij
authors.forename: Stuart
authors.initials: S
authors.lastname: Elborn
mesh_terms: D002985:Clinical Protocols; D003550:Cystic Fibrosis / Q000175:diagnosis*; D005060:Europe; D006801:Humans; D007231:Infant, Newborn; D015997:Neonatal Screening / Q000379:methods*; D010353:Patient Education as Topic; D011368:Professional-Family Relations