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

Détails

ID Serval
serval:BIB_D397D83F1215
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
One-year evaluation of a neonatal screening program for cystic fibrosis in Switzerland.
Périodique
Deutsches Ärzteblatt International
Auteur⸱e⸱s
Rueegg C.S., Kuehni C.E., Gallati S., Baumgartner M., Torresani T., Barben J.
Collaborateur⸱rice⸱s
Swiss CF Screening Task Force
Contributeur⸱rice⸱s
Barben J., Möller A., Mornand A., Casaulta C., Kuehni C., Hafen G., Schöni M., Baumgartner M., Regamey N., Fingerhut R., Gallati S., Torresani T., Barazzone C., Eng P., Hammer J., Müller D., Rochat I., Spinas R., Spalinger J., Trachsel D., Zanolari M.
ISSN
1866-0452 (Electronic)
ISSN-L
1866-0452
Statut éditorial
Publié
Date de publication
05/2013
Peer-reviewed
Oui
Volume
110
Numéro
20
Pages
356-363
Langue
anglais
Notes
Publication types: Evaluation Studies ; Journal Article ; Research Support, Non-U.S. Gov't
Résumé
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.
Mots-clé
Cystic Fibrosis/diagnosis, Cystic Fibrosis/epidemiology, Female, Genetic Testing/methods, Humans, Incidence, Infant, Infant, Newborn, Infant, Newborn, Diseases/diagnosis, Infant, Newborn, Diseases/epidemiology, Male, Neonatal Screening/methods, Population Surveillance/methods, Program Evaluation, Risk Assessment, Switzerland/epidemiology
Pubmed
Web of science
Création de la notice
13/12/2013 14:11
Dernière modification de la notice
20/08/2019 15:53
Données d'usage