Mornand Anne, Barben Jürg, Hafen Gaudenz
Unité de pneumologie pédiatrique, Hôpital des enfants, Rue Willy Donzé 6, 1211 Geneve 14.
Rev Med Suisse. 2011 Feb 23;7(283):456, 458-60.
The diagnosis of cystic fibrosis (CF) is often delayed because of the nonspecificity of a wide variety of clinical symptoms at disease onset. Newborn screening for CF has been advocated to reduce delays in diagnosis, facilitating preventive care for early respiratory and nutritional involvement. According to American and European consensus and experience of existing programs, a Swiss Nationwide Cystic Fibrosis Newborn Screening Program started in January 2011. Screening strategy combines two steps: an immunoreactive trypsinogen assay and DNA mutation analysis in dried blood samples at day 4 (Guthrie cards).