One-year evaluation of a neonatal screening program for cystic fibrosis in Switzerland

Rueegg, Corina S.; Kuehni, Claudia E.; Gallati, Sabina; Baumgartner, Matthias; Torresani, Toni; Barben, Juerg (2013). One-year evaluation of a neonatal screening program for cystic fibrosis in Switzerland. Deutsches Ärzteblatt international, 110(20), pp. 356-363. Deutscher Ärzte-Verlag 10.3238/arztebl.2013.0356

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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.

CONCLUSION

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.

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