March 25, 2013
Section of Inborn Errors of Metabolism, Department of Biochemistry and Molecular Genetics, CDB, performs biochemical tests for the Neonatal Screening Program in Catalonia. Tracking positive infants were divided into three Catalan pediatric hospitals (Hospital Infantil Vall d'Hebron Hospital San Juan de Dios Hospital Parc Taulí).
Neonatal Screening which until 2012 was done only for three diseases (congenital hypothyroidism, phenylketonuria and cystic fibrosis) has been extended to 22. The extension includes some metabolism disturbances of organic acids, amino acids and fatty acids. All the included diseases have ipreventive treatment. This screening is performed by tandem mass spectrometry and represents an activity of more than 80,000 samples tested annually.
You can watch a reportage about the Program in the following link: