1Clinica Pediatrica, IRCCS “Burlo Garofolo”, Università di Trieste
2UOC Malattie Metaboliche Ereditarie, Azienda Ospedaliera, Università di Padova
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Key words: Metabolic diseases, Diagnosis, Tandem mass spectrometry
Newborn expanded screening is slowly starting in Italy. The programme will screen some rare, most metabolic, diseases that could be managed and treated better if diagnosed in the first days of life. The program has been adopted in many countries in Europe and around the world though the lists of screened diseases vary widely, depending on political, socio-economical and cultural reasons. At the moment, in Italy each region is choosing if and when starting the screening and which diseases must be screened. Starting the screening is not complicated from a technical point of view, the challenging part of the programme is represented by the organization of the subsequent net of education of physicians, communication of diagnosis, early care of patients, and is still a debated ethical issue. This article tries to analyse pros and cons of this cultural revolution that will affect us in the next years.
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