title: One-year evaluation of a neonatal screening program for cystic fibrosis in Switzerland.
abstract: BACKGROUND
  From January 2011 onward, the Swiss newborn screening (NBS) program has included a test for cystic fibrosis (CF). In this study, we evaluate the first year of implementation of the CF-NBS program.
  
  
  METHODS
  The CF-NBS program consists of testing in two steps: a heel prick sample is drawn (= Guthrie test) for measurement of immunoreactive trypsinogen (IRT) and for DNA screening. All children with a positive screening test are referred to a CF center for further diagnostic testing (sweat test and genetic analysis). After assessment in the CF center, the parents are given a questionnaire. All the results of the screening process and the parent questionnaires were centrally collected and evaluated.
  
  
  RESULTS
  In 2011, 83 198 neonates were screened, 84 of whom (0.1%) had a positive screening result and were referred to a CF center. 30 of these 84 infants were finally diagnosed with CF (positive predictive value: 35.7%). There was an additional infant with CF and meconium ileus whose IRT value was normal. The 31 diagnosed children with CF correspond to an incidence of 1 : 2683. The average time from birth to genetically confirmed diagnosis was 34 days (range: 13-135). 91% of the parents were satisfied that their child had undergone screening. All infants receiving a diagnosis of CF went on to receive further professional care in a CF center.
  
  
  CONCLUSIONS
  The suggested procedure for CF-NBS has been found effective in practice; there were no major problems with its implementation. It reached high acceptance among physicians and parents.
authors.affiliation: Institute of Social and Preventive Medicine, University of Bern, Switzerland.
authors.forename: Corina S
authors.initials: CS
authors.lastname: Rueegg
authors.forename: Claudia E
authors.initials: CE
authors.lastname: Kuehni
authors.forename: Sabina
authors.initials: S
authors.lastname: Gallati
authors.forename: Matthias
authors.initials: M
authors.lastname: Baumgartner
authors.forename: Toni
authors.initials: T
authors.lastname: Torresani
authors.forename: Juerg
authors.initials: J
authors.lastname: Barben
mesh_terms: D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000453:epidemiology*; D005260:Female; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D015994:Incidence; D007223:Infant; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000175:diagnosis* / Q000453:epidemiology*; D008297:Male; D015997:Neonatal Screening / Q000379:methods*; D011159:Population Surveillance / Q000379:methods*; D015397:Program Evaluation; D018570:Risk Assessment; D013557:Switzerland / Q000453:epidemiology