Rare diseases

Expanded newborn screening

Expanded newborn screening is an important public health program aimed to screen all newborns The role of the programme is secondary prevention aimed to provide early diagnosis and to prevent or ameliorate the long-term consequences of the disease for newborns who are suffering from Inherited Metabolic Disorders (IMDs).

IMDs are a phenotypically and genetically rare heterogeneous group of conditions caused by a defect in a metabolic pathway, leading to malfunctioning metabolism and/or the accumulation of toxic intermediate metabolites.

In Italy Expanded Newborn Screening is offered free of charge at national level since 2016 and is regulated by two national normative:
1. Law no. 167 dated 19 August 2016
2. Ministerial Decree dated 13 October 2016

In order to provide the maximum homogeneity of application of the legislation throughout the national territory, a Coordination Centre for neonatal screening is established at the National Institute of Health. The Centre, coordinated by ISS, is composed by representatives of ISS, Ministry of Health, Standing Conference for State-Regions relationship and experts, including three representative of patients Associations.

The main task assigned to the Coordinating centre are:

  • providing standardized information to territorial services for health assistance for families of newborns on risks derived from hereditary metabolic pathologies, as well as on benefits obtained from screening activity, offering also information on therapy and the best treatments available for the specific metabolic disease
  • establishing, for the aims specified to the paragraph a) and d), modalities of collecting blood samples as well as delivery of same, within forty-eight hours of the withdrawal, at regional reference screening center
  • establishing a centralized archive on the outcomes of the neonatal screening in order to make data available for effectiveness evaluation, also in terms of cost, of the paths undertaken.

The Coordinating centre produce regular national reports on the state of the art of national programme of Expanded newborn screening in close collaboration with regional institution involved in Expanded newborn screening implemented at regional level.