Newborn screening of inherited metabolic disorders: the Italian situation.
J Biol Regul Homeost Agents
; 30(3): 909-914, 2016.
Article
en En
| MEDLINE
| ID: mdl-27655520
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.
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Banco de datos:
MEDLINE
Asunto principal:
Tamizaje Neonatal
/
Errores Innatos del Metabolismo
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
/
Screening_studies
Límite:
Humans
/
Newborn
País/Región como asunto:
Europa
Idioma:
En
Revista:
J Biol Regul Homeost Agents
Asunto de la revista:
BIOLOGIA
/
BIOQUIMICA
Año:
2016
Tipo del documento:
Article
País de afiliación:
Italia