title: Newborn screening of inherited metabolic disorders: the Italian situation.
abstract: Starting from an international overview of the current status of screening programs, the present paper focuses on the legal situation in Italy and the great differences among Italian regions. Since the introduction of tandem mass spectrometry (MS/MS) in the 90s the paradigm one spot-one disease changed. Only recently, some regions issued legislative acts to promote expanded newborn screening with MS/MS. This approach raises medico-legal and ethical issues because a fast neonatal diagnosis of an inborn error of metabolism (IEM) could increase chances of an early treatment and reduce disabilities, therefore citizens ought to have the same access to care countrywide. Enacting a mandatory standard for a disease screening panel using MS/MS and a few centers specialized in diagnosis, treatment and follow-up of patients affected by IEM (inborn errors of metabolism) can reduce legal and ethical issues.
authors.affiliation: Department of Health Sciences, Forensic Sciences Section, University of Florence, Florence, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Focardi
authors.affiliation: Department of Health Sciences, Forensic Sciences Section, University of Florence, Florence, Italy.
authors.forename: V
authors.initials: V
authors.lastname: Pinchi
authors.affiliation: Department of Health Sciences, Forensic Sciences Section, University of Florence, Florence, Italy.
authors.forename: B
authors.initials: B
authors.lastname: Defraia
authors.affiliation: Department of Health Sciences, Forensic Sciences Section, University of Florence, Florence, Italy.
authors.forename: B
authors.initials: B
authors.lastname: Gualco
authors.affiliation: Department of Medical, Oral and Biotechnological Sciences, Dental School, G. DAnnunzio University of Chieti-Pescara, Chieti, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Varvara
authors.affiliation: Department of Health Sciences, Forensic Sciences Section, University of Florence, Florence, Italy.
authors.forename: G A
authors.initials: GA
authors.lastname: Norelli
mesh_terms: D042241:Early Diagnosis; D062306:Geography, Medical / Q000331:legislation & jurisprudence; D006297:Health Services Accessibility; D054625:Healthcare Disparities; D006801:Humans; D007231:Infant, Newborn; D007558:Italy / Q000453:epidemiology; D037141:Mandatory Programs / Q000941:ethics / Q000331:legislation & jurisprudence / Q000592:standards; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000453:epidemiology; D015997:Neonatal Screening / Q000941:ethics / Q000331:legislation & jurisprudence* / Q000379:methods / Q000592:standards; D053719:Tandem Mass Spectrometry