Congenital anomalies (CA) are the paradigm example of rare diseases liable to primary prevention actions due to the mul- tifactorial etiology of many of them, involving a number of environmental factors together with genetic predisposi- tions. Yet despite the preventive potential, lack of attention to an integrated preventive strategy has led to the preva- lence of CA remaining relatively stable in recent decades. The 2 European projects, EUROCAT and EUROPLAN, have joined efforts to provide the first science-based and compre- hensive set of recommendations for the primary prevention of CA in the European Union. The resulting EUROCAT-EURO- PLAN ‘Recommendations on Policies to Be Considered for the Primary Prevention of Congenital Anomalies in National Plans and Strategies on Rare Diseases’ were issued in 2012 and endorsed by EUCERD (European Union Committee of Experts on Rare Diseases) in 2013. The recommendations ex- ploit interdisciplinary expertise encompassing drugs, diet, lifestyles, maternal health status, and the environment. The recommendations include evidence-based actions aimed at reducing risk factors and at increasing protective factors and behaviors at both individual and population level. Moreover, consideration is given to topics specifically related to CA (e.g. folate status, teratogens) as well as of broad public health impact (e.g. obesity, smoking) which call for specific atten- tion to their relevance in the pre- and periconceptional pe- riod. The recommendations, reported entirely in this paper, are a comprehensive tool to implement primary prevention into national policies on rare diseases in Europe.
|Autori:||Taruscio D.;Arriola, L.;Baldi, F.;Barisic, I.;Bermejo-Sànchez, E.;Biachi, F.;Calzolari, E.;Carbone, P.;Curran, R.;Gane, E.;Gatt, M, Latos-Bielenska, A.;Khoshnood, B.;Irgens, L.;Mantovani, A.;Martinez.Frias, M.L.;Neville, A.;Ribmann, A.;Ruggeri, S.;Wellesley, D.;Dolk, H.|
|Data di pubblicazione:||2014|
|Titolo:||European Recommendations for Primary Prevention of Congenital Anomalies: A Joined Effort of EUROCAT and EUROPLAN Projects to Facilitate Inclusion of This Topic in the National Rare Disease Plans|
|Rivista:||PUBLIC HEALTH GENOMICS|
|Appare nelle tipologie:||1.1 Articolo in rivista|