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.
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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Authors: Drucy Borowitz; Karen A Robinson; Margaret Rosenfeld; Stephanie D Davis; Kathryn A Sabadosa; Stephanie L Spear; Suzanne H Michel; Richard B Parad; Terry B White; Philip M Farrell; Bruce C Marshall; Frank J Accurso Journal: J Pediatr Date: 2009-12 Impact factor: 4.406
Authors: 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 Hammermann; Nataliya 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 Journal: J Cyst Fibros Date: 2009-02-26 Impact factor: 5.482