Screening neonatale esteso nelle Regioni: monitoraggio dell’attuazione della Legge 167/2016 e del DM 13 ottobre 2016. Stato dell’arte al 30 giugno 2017

This is the first monitoring report of the implementation of Law 167/2016 and of Ministerial Decree October 13, 2016 on Extended Neonatal Screening. The report, elaborated by the Coordination Centre on Neonatal Screening, in collaboration with the National Centre for Rare Diseases, describes the state of the art of the activities realised by each Region/Autonomous Province program up to June 30, 2017. The results underline that 18 Regions/Autonomous Province have implemented the Extended Neonatal Screening Program, while in 3 Regions, the Extended Neonatal Screening System is still in design phase. Not all Regions have defined the various levels of articulation of the Extended Neonatal Screening system, according to art. 4 of the Ministerial Decree of 13 October 2016. Moreover, only 50% of the Regions have a total coverage of diseases included in Extended Neonatal Screening Program. The results highlight that, in order to ensure the harmonized application of the legislation at national level, it is necessary to strengthen synergies between the various stakeholders: central institutions, regions, clinical centres, patients’ and families’ associations, and scientific societies.