Healthcare and health
DCA 75 provides for the establishment of the regional coordination of screening
DCA 75 of 3 March 2023 by Commissioner Roberto Occhiuto and Sub-Commissioner Ernesto Esposito identifies the Mater Domini University Pediatrics Complex Operational Unit of Catanzaro, directed by Daniela Concolino, as the Regional Clinical Center for Hereditary Metabolic Diseases, providing with a subsequent act the establishment of the regional coordination of screening.
As reported in the DCA, the Mater Domini Company carries out screening for congenital hypothyroidism, cystic fibrosis and phenylketonuria for all newborns in the region, while the memorandum of understanding approved by the DCA 169/2019 between the Calabria Region is still in force , the Campania Region, the Ceinge and the AOU Mater Domini aimed at implementing neonatal screening extended to all newborns. Ceinge Advanced Biotechnology of Naples – Franco Salvatore is a non-profit consortium company with limited liability and public capital. Extended newborn screening (ENS) is mandatory for every newborn in Italy and must be carried out a few hours after birth.
Hereditary Metabolic Diseases (MME) represent about 15% of the rare genetic diseases known to date, caused by the altered functioning of a specific metabolic pathway. They represent a heterogeneous group, both from the phenotypic and genetic point of view of over 700 different pathologies which, taken individually, are rare but together they have a cumulative incidence ranging from 1 in 500 to 1 in 4,000 live births.
Newborn screening is one of the most important secondary prevention measures. In Italy it has been free and compulsory since 1992 (law 104/1992) for 3 pathologies: phenylketonuria, congenital hypothyroidism and cystic fibrosis. Law 167/2016 extended mandatory newborn screening to about 40 hereditary metabolic diseases (ENS extended newborn screening). In Calabria the SNE has been active since January 2021 (source Civic Recommendation – Active Citizenship July 2022). A previous DCA 38 of 24 January 2023 had intervened to adjust the tariffs according to what had been established in the meantime by the Campania Region, which in April 2021 had brought the cost of the single test to 55 euros.