Screening for rare diseases at birth is an important tool for early detection of conditions that could otherwise lead to a fatal outcome or serious disability.
"Italy, together with the United States, is the country where the most pathologies are being sought, as many as 48. But by expanding the panel to another 10, this opportunity could also be given to children suffering from other serious diseases", overcoming the many regional differences today existing.
Andrea Pession, president of the Society for Hereditary Metabolic Diseases and Neonatal Screening (Simmsen), made the point during the presentation of the "Extended Neonatal Screening Notebook", created by the Rare Disease Observatory (Omar).
Initially limited to three conditions, newborn screenings have been extended in Italy thanks to law 167 of 2016, recognized as the flagship of our country.
Many steps forward have been made.
"The laboratories have gone from the initial 30 to 15, covering a pool of 25,000 births each. The optimal coverage, however, would be 60,000 newborns, so efficiency can still be improved", explains Giancarlo la Marca, director of the Expanded Neonatal Screening Laboratory of the Meyer Hospital from Florence.
In addition to the screenings already envisaged, however, the Omar survey emerges, there are 10 other diseases that have the credentials for screening, including spinal muscular atrophy (Sma), Fabry, Gaucher, Pompe diseases, mucopolysaccharidosis of type I and immunodeficiency Ada Scid.
While awaiting the update of the national panel, 16 Regions have moved on their own.
Leading the ranking of those that have increased the number of rare conditions sought is Puglia with 10 pathologies more than what is foreseen at a national level;
followed by Abruzzo (7), Veneto, Friuli Venezia Giulia and Tuscany (5).
"This is commendable - comments Ilaria Ciancaleoni Bartoli, Omar president - but it has led to important regional differences that must be overcome to ensure that all newborns have the same rights. We hope for an update of the panel as soon as possible".