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

Abstract

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.

Anomalias congênitas em nascidos vivos

“…As deformidades osteomusculares, as anomalias do sistema nervoso central e geniturinário se destacam, visto que são passiveis de serem identificadas no momento do nascimento e, em alguns casos, são identificadas mesmo durante o pré-natal, na realização de exames como ultrassonografia morfológica e medida de translucência nucal, possibilitando um diagnóstico pós-parto mais preciso (2,16) . Entendendo a promoção da saúde como um conjunto de estratégias e formas de produzir saúde, no âmbito individual e coletivo, visando atender às necessidades sociais de saúde e garantir a melhoria da qualidade de vida da população (30) , torna-se importante inserir a prevenção às anomalias congênitas como uma ação viável e efetiva, uma vez que podem ser implementadas estratégias de atenção primária baseadas em evidências, tanto para reduzir os fatores de risco quanto para propagarem os fatores e comportamentos de proteção em nível individual e coletivo (31) . Destaca-se que, entre as principais ações de prevenção primária baseada em evidências, direcionadas principalmente para famílias com mulheres em idade fértil, encontra-se o uso profilático de suplementos (ferro e ácido fólico) no período pré-concepcional, a manutenção da saúde reprodutiva do casal e as atividades de planejamento familiar (32) .…”

Primary Prevention of Congenital Anomalies: Recommendable, Feasible and Achievable

“…Two European projects, EUROCAT (European Surveillance of CA; http://www.eurocat-network.eu/) and EUROPLAN (European Project for Rare Diseases National Plans Development; http://www.europlanproject.eu/), have recently issued a body of evidence-based recommendations for CA primary prevention, which was endorsed by the European Union Committee of Experts on Rare Diseases in 2013 [5]. These recommendations allow primary prevention strategies to be developed both for specific target groups (e.g., counselling of fertile women with chronic illness on the risks and benefits of medication choices) and broader public health targets relevant to prenatal development (e.g., community policies promoting healthier dietary patterns or reducing active/passive smoking).…”

“…Available scientific evidence indicates that acting on identified risk and protective factors can achieve a reduction in CA incidence and the related health and social burden [5]. Unfortunately, for most factors identified, a translation of scientific and epidemiologic findings into successful strategies for birth defect prevention in the population has not occurred [16,17,18].…”

“…A recent US study pointed out that rather than taking supplements, a prudent overall dietary pattern may reduce the risk of neural tube and congenital heart defects [36]. It is well established that within an adequate diet, a well-balanced intake of specific nutrients (e.g., zinc and vitamin A) is critical for the prevention of CA; also, whereas a folate-rich diet and periconceptional supplementation with folic acid are effective beyond doubt in reducing the prevalence of neural tube defects, attention should also be given to the status of vitamins B 12 and B 6 , since they are needed for proper folate metabolism [5]. Considering the global problem of an inadequate or unbalanced intake of micronutrients, it is plausible that multiple micronutrient supplementation would represent a major tool in the prevention of CA.…”

“…The EUROCAT-EUROPLAN recommendations present an array of feasible and evidence-based measures from which national plans can adopt and implement part of or all the actions considered by the recommendations based on individual country priorities [5]. Primary prevention of CA is feasible because many risk factors are recognized and can be targeted by well-identified community actions, such as the counselling of fertile women with chronic disease regarding medication choices, evidence-based vaccination policies and regulations on occupational exposures of either pregnant women and women of childbearing age in the workplace as well as through individual information and empowerment: taking periconceptional folic acid supplements at the right time and in the right dose, avoiding over- or underweight, and promoting alcohol avoidance in women who are pregnant or could become pregnant.…”