Neonatal screening for cystic fibrosis

Serra-Prat M
Record ID 32000000019
Catalan, English, Spanish
Authors' objectives:

To review the available evidence on neonatal screening for cystic fibrosis (CF).

Authors' results and conclusions: Neonatal screening of CF with immunoreactive tripsin (IRT) is believed to show a good diagnosis efficacy, with 99.6% specificity values corresponding to 85.7% sensitivity values. The positive predictive value, however, is below 10%. Strategies combining IRT with a second test significantly improve the diagnosis validity compared to the IRT strategy alone. Because of the limited number of controlled studies assessing the efficacy of the prenatal screening of CF in terms of mortality or survival, the limitations placed by the methodological quality and the design of these studies, along with the lack of good agreement between results, the idea of survival improvements of these patients attributable to the screening programme should be still considered a plausible hypothesis requiring confirmation, instead of a scientifically proven statement. Also, the available scientific evidence is not conclusive regarding the efficacy and effectiveness of prenatal screening of CF in terms of morbidity (number of admissions, infections, etc.), although there are data showing good short-term benefits.
Authors' recommendations: According to the available scientific evidence on the efficacy and effectiveness of prenatal screening of CF, the implementation of a systematic, general screening programme for CF in all newborns in Catalonia is not recommended. Co-ordinated international studies, presenting new scientific evidence on the effectiveness of the early diagnosis and treatment of CF are required - it is unlikely that the Catalan data alone would provide with a conclusive answer to this issue.
Authors' methods: Systematic review
Details
Project Status: Completed
Year Published: 2000
English language abstract: An English language summary is available
Publication Type: Not Assigned
Country: Spain
MeSH Terms
  • Cystic Fibrosis
  • Neonatal Screening
Contact
Organisation Name: Agencia de Qualitat i Avaluacio Sanitries de Catalunya
Contact Address: Antoni Parada, CAHTA, Roc Boronat, 81-95 (2nd floor), 08005 Barcelona, Spain, Tel. +34 935 513 928, Fax: +34 935 517 510
Contact Name: direccio@aatrm.catsalut.net / aparada@aatrm.catsalut.net
Contact Email: direccio@aatrm.catsalut.net / aparada@aatrm.catsalut.net
Copyright: Catalan Agency for Health Technology Assessment and Research (CAHTA)
This is a bibliographic record of a published health technology assessment from a member of INAHTA or other HTA producer. No evaluation of the quality of this assessment has been made for the HTA database.