title: The expansion and performance of national newborn screening programmes for cystic fibrosis in Europe.
abstract: BACKGROUND
  Newborn screening (NBS) for cystic fibrosis (CF) is a well-established public health strategy with international standards. The aim of this study was to provide an update on NBS for CF in Europe and assess performance against the standards.
  
  
  METHODS
  Questionnaires were sent to key workers in each European country.
  
  
  RESULTS
  In 2016, there were 17 national programmes, 4 countries with regional programmes and 25 countries not screening in Europe. All national programmes employed different protocols, with IRT-DNA the most common strategy. Five countries were not using DNA analysis. In addition, the processing and structure of programmes varied considerably. Most programmes were achieving the ECFS standards with respect to timeliness, but were less successful with respect to sensitivity and specificity.
  
  
  CONCLUSIONS
  There has been a steady increase in national CF NBS programmes across Europe with variable strategies and outcomes that reflect the different approaches.
authors.affiliation: Cystic Fibrosis Centre, Children's Hospital of Eastern Switzerland, St. Gallen, Switzerland. Electronic address: juerg.barben@kispisg.ch.
authors.forename: Jürg
authors.initials: J
authors.lastname: Barben
authors.affiliation: Cystic Fibrosis Centre, Azienda Ospedaliera Verona, Verona, Italy.
authors.forename: Carlo
authors.initials: C
authors.lastname: Castellani
authors.affiliation: Atrium Medical Centre, Department of Pediatrics, Heerlen, The Netherlands.
authors.forename: Jeannette
authors.initials: J
authors.lastname: Dankert-Roelse
authors.affiliation: Cystic Fibrosis Centre, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
authors.forename: Silvia
authors.initials: S
authors.lastname: Gartner
authors.affiliation: Department of Cystic Fibrosis, Research Centre for Medical Genetics, Moscow, Russia.
authors.forename: Nataliya
authors.initials: N
authors.lastname: Kashirskaya
authors.affiliation: Mid-Western Regional Hospital, Dooradoyle, Limerick, Ireland.
authors.forename: Barry
authors.initials: B
authors.lastname: Linnane
authors.affiliation: Alder Hey Children's NHS Foundation Trust, Liverpool, UK.
authors.forename: Sarah
authors.initials: S
authors.lastname: Mayell
authors.affiliation: AFDPHE & Hôpital Robert Debré, Paris, France.
authors.forename: Anne
authors.initials: A
authors.lastname: Munck
authors.affiliation: Cystic Fibrosis Centre, Institute of Mother and Child, Warsaw, Poland.
authors.forename: Dorota
authors.initials: D
authors.lastname: Sands
authors.affiliation: Division of Pediatric Pulmonology & Allergy, Department of Pediatrics III, University of Heidelberg, Heidelberg, Germany; Translational Lung Research Center Heidelberg (TLRC), German Center for Lung Research (DZL), Heidelberg, Germany.
authors.forename: Olaf
authors.initials: O
authors.lastname: Sommerburg
authors.affiliation: Institute in the Park, Alder Hey Children's Hospital, University of Liverpool, UK.
authors.forename: Simon
authors.initials: S
authors.lastname: Pybus
authors.affiliation: Institute in the Park, Alder Hey Children's Hospital, University of Liverpool, UK.
authors.forename: Victoria
authors.initials: V
authors.lastname: Winters
authors.affiliation: Institute in the Park, Alder Hey Children's Hospital, University of Liverpool, UK.
authors.forename: Kevin W
authors.initials: KW
authors.lastname: Southern
mesh_terms: D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D005060:Europe / Q000453:epidemiology; D005820:Genetic Testing / Q000379:methods; D019538:Health Care Surveys; D006801:Humans; D007231:Infant, Newborn; D009313:National Health Programs / Q000592:standards / Q000706:statistics & numerical data; D015997:Neonatal Screening / Q000379:methods / Q000592:standards; D015397:Program Evaluation; D012015:Reference Standards
chemical_list: D019005:Cystic Fibrosis Transmembrane Conductance Regulator
keywords: CFSPID; Carriers; Cystic fibrosis; IRT; Newborn bloodspot screening; PAP