Newborn screening is one of the most important secondary prevention measures. In Italy, newborn screening has been free of charge and compulsory since 1992 (Law 104/1992) for 3 pathologies: phenylketonuria, congenital hypothyroidism and cystic fibrosis.
The Italian Law 167/2016 extended mandatory newborn screening to about 40 inherited metabolic diseases (extended newborn screening) and established the Coordination Center on newborn screening at the Istituto Superiore di Sanità (ISS) in order to ensure maximum uniformity in the local application of early neonatal diagnosis.
The Decree of the President of the Council of Ministers of 12/01/2017 for the updating of the Essential levels of care also guarantees auditory and visual screening for congenital deafness and congenital cataract to all newborns.
