Authors' objectives: To assess the efficacy/effectiveness and safety of newborn CF screening. To describe the various newborn CF screening strategies (screening protocols; screening test; diagnostic test; outcome assessment; referral units/centres; screening-programme quality assurance).

Authors' recommendations: Current scientific evidence indicates that early treatment yields benefits in the anthropometric development and nutritional status of newborns identified by newborn screening as compared to clinically diagnosed children. No clear benefit has been seen in the progress of pulmonary involvement. The screening protocol is complex, since a positive result in the initial screening test requires complementary screening tests to be performed and there is no standardised strategy. CF screening protocols depend on the specific context of each programme. Furthermore, the choice of any given protocol will depend on the programme's capacity to assume the burden of the complementary tests proposed. While the initial test is common to all newborn screening programmes and consists of determining IRT levels in a heel blood sample taken during the first days of life, there is no standard cutoff point. The subsequent stages differ according to the individual programmes, and can consist of a second IRT determination, PAP determination, or performance of a genetic test to detect CFTR gene mutations. The number of mutations detected will depend on the commercial kit or DNA analysis technique used. Parents must be properly informed of the benefits and harm of the screening programme, and in the case of strategies in which genetic tests are used, consideration must be given to other ethical and legal aspects, such as the obligatory need for informed written consent and proper genetic counselling about carrier status. The CF diagnostic confirmation test is the sweat test. Accurate diagnosis of CF is achieved where chloride levels exceed 60mmol/l, with CF being ruled out where such levels are under 30mmol/l. Intermediate sweat test values (30-60mmol/l) are classified as borderline results and call for special assessment and management. Owing to the complexity of the disease, all newborns diagnosed with cystic fibrosis should be referred for proper management and follow-up to referral centres, which must in turn be provided with the necessary multidisciplinary teams and appropriate facilities for delivering fully-integrated health care, as well as the capability to treat and offer advice on CF-related complications.

Project Status: Completed

Year Published: 2013

URL for published report: http://www.sergas.es/Docs/Avalia-t/avaliat_201201_fibrosisQ_textcomp.pdf

English language abstract: An English language summary is available

Publication Type: Not Assigned

Country: Spain

Organisation Name: Scientific Advice Unit, avalia-t; The Galician Health Knowledge Agency (ACIS)

Contact Address: Conselleria de Sanidade, Xunta de Galicia, San Lazaro s/n 15781 Santiago de Compostela, Spain. Tel: 34 981 541831; Fax: 34 981 542854;

Contact Name: avalia-t@sergas.es

Contact Email: avalia-t@sergas.es

Copyright: <p>Galician Agency for Health Technology Assessment (AVALIA-T)</p>