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.
Congenital anomalies (CA) are the paradigm example of rare diseases liable to primary prevention actions due to the multifactorial etiology of many of them, involving a number of environmental factors together with genetic predispositions. Yet despite the preventive potential, lack of attention to an integrated preventive strategy has led to the prevalence 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 comprehensive set of recommendations for the primary prevention of CA in the European Union. The resulting EUROCAT-EUROPLAN '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 exploit 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 attention to their relevance in the pre- and periconceptional period. The recommendations, reported entirely in this paper, are a comprehensive tool to implement primary prevention into national policies on rare diseases in Europe.
National Center for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy.
Domenica
D
Taruscio
Larraitz
L
Arriola
Francesca
F
Baldi
Ingeborg
I
Barisic
Eva
E
Bermejo-Sánchez
Fabrizio
F
Bianchi
Elisa
E
Calzolari
Pietro
P
Carbone
Rhonda
R
Curran
Ester
E
Garne
Miriam
M
Gatt
Anna
A
Latos-Bieleńska
Babak
B
Khoshnood
Lorentz
L
Irgens
Alberto
A
Mantovani
Maria Luisa
ML
Martínez-Frías
Amanda
A
Neville
Anke
A
Rißmann
Stefania
S
Ruggeri
Diana
D
Wellesley
Helen
H
Dolk
D000013:Congenital Abnormalities / Q000453:epidemiology / Q000209:etiology / Q000235:genetics / Q000517:prevention & control*; D004032:Diet; D004787:Environmental Pollution / Q000517:prevention & control; D005060:Europe / Q000453:epidemiology; D005062:European Union; D055317:Evidence-Based Practice; D005260:Female; D005492:Folic Acid; D006291:Health Policy; D006801:Humans; D008019:Life Style; D008297:Male; D009747:Nutritional Physiological Phenomena; D009765:Obesity / Q000150:complications / Q000517:prevention & control; D017410:Practice Guidelines as Topic; D016742:Preconception Care; D011247:Pregnancy; D011322:Primary Prevention / Q000379:methods*; D035583:Rare Diseases; D012307:Risk Factors; D012308:Risk Management; D013723:Teratogens
D013723:Teratogens; D005492:Folic Acid