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13/C7 - Convegno. Prevenzione primaria delle malformazioni congenite e screening neonatale esteso. Istituto Superiore di Sanità. Roma, 11 dicembre 2013. Riassunti. A cura di Orietta Granata, Pietro Carbone e Domenica Taruscio2013, xii, 60 p.
Congress. Primary prevention of congenital anomalies and expanded newborn screening. Istituto Superiore di Sanità. Rome, December 11, 2013. Abstract book.
Edited by Orietta Granata, Pietro Carbone and Domenica Taruscio.
2013, xii, 60 p. ISTISAN Congressi 13/C7 (in Italian)
Congenital Anomalies (CA) and inherited metabolic disorders are two heterogeneous groups of Rare Diseases (RD). Exposures to exogenous risk factors, unhealthy lifestyles (alcohol, smoking, diet) and genetic factors are key components of in the etiopathogenesis of these CA. It is essential to implement both primary prevention interventions, through the removal and containment of risk factors, and secondary prevention, through population-based programs aimed at early detection of asymptomatic cases like newborn screening. The implementation of strategies for primary and secondary prevention is related to advances in scientific knowledge about risk factors, protective factors and the diagnostic and therapeutic options. Therefore it is essential to devote resources to interdisciplinary studies and researches aimed at understanding the etiopathogenic mechanisms, and the efficacy of diagnosis and treatment approaches, so to identify RD for which can be implemented effective primary and secondary preventive measures.
Key words: Congenital anomalies, Neural tube defects, Periconceptional, Supplementation, Folate, Hereditary metabolic diseases, Expanded newborn screening, Public health policy.
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