Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience

Newborn screening (NBS) for inherited metabolic diseases is one of the most advanced tools in precision medicine, as it allows the early diagnosis of genetic diseases so that an effective treatment can be started before the onset of irreversible organ damage. The introduction of tandem mass spectrometry (MS/MS) in NBS offered the possibility of screening for almost 50 conditions using a single dried blood spot (DBS) [1–3]. The first Italian law that organized a NBS national system dates to 1992 (law 104/1992, https://www.gazzettaufficiale.it/eli/id/1992/02/17/092G0108/sg, accessed on 15 April 2022) when the newborn screening for the identification and early treatment of congenital hypothyroidism, phenylketonuria and cystic fibrosis, until then adopted in some regions and not others, was made mandatory for all newborns in Italy