Rare diseases

Congenital malformations

Until 2019 the epidemiological data relating to congenital malformation (CM) in Italy were collected by regional registries. The Italian Decree (DPCM 03/03/2017) initiates the establishment of the CM National surveillance through the development of a dedicated CM National Registry.

This process is coordinated by the National centre for rare diseases and supported by the Ministry of Health and the existing CM registries (Emilia-Romagna region, IMER and Tuscany region, RTDC). Due to regional organization of the Italian Health System, the CM National Registry collects data from CM registries established in all regions.

Implementation is achieved by tackling the following issues: a) definition of the data-set: b) data sources; c) epidemiological flows; d) infra-structure for data collection; e) data sharing; f) FAIRification of data; a close collaboration with EUROCAT is envisaged.  

A project in collaboration with the ISS Department of Infectious diseases, funded by the Health Ministry, implements the new Register as a tool for the surveillance of CM and related teratogens.