Primary Prevention of Congenital Anomalies: Recommendable, Feasible and Achievable

Abstract

Primary prevention of congenital anomalies was identified as an important action in the field of rare diseases by the European Commission in 2008, but it was not included in the Council Recommendation on an action in the field of rare diseases in 2009. However, primary prevention of congenital anomalies is feasible because scientific evidence points to several risk factors (e.g., obesity, infectious and toxic agents) and protective factors (e.g., folic acid supplementation and glycemic control in diabetic women). Evidence-based community actions targeting fertile women can be envisaged, such as risk-benefit evaluation protocols on therapies for chronic diseases, vaccination policies, regulations on workplace and environmental exposures as well as the empowerment of women in their lifestyle choices. A primary prevention plan can identify priority targets, exploit and integrate ongoing actions and optimize the use of resources, thus reducing the health burden for the new generation. The EUROCAT-EUROPLAN recommendations for the primary prevention of congenital anomalies endorsed in 2013 by the European Union Committee of Experts on Rare Diseases present an array of feasible and evidence-based measures from which national plans can adopt and implement actions based on country priorities. Primary prevention of congenital anomalies can be achieved here and now and should be an integral part of national plans on rare diseases.

Congenital Anomalies in Children With Cerebral Palsy: A Systematic Review

“…Other strategies exist for the primary prevention of congenital anomalies, particularly related to medicinal drugs, diet, lifestyle, maternal health status, and the environment. 39,40 These strategies may subsequently interrupt other pathways to cerebral palsy early in gestation. 39,40 Finally, there may be opportunities for secondary prevention, by interrupting pathways to postneonatally acquired cerebral palsy that include congenital anomalies.…”

“…39,40 These strategies may subsequently interrupt other pathways to cerebral palsy early in gestation. 39,40 Finally, there may be opportunities for secondary prevention, by interrupting pathways to postneonatally acquired cerebral palsy that include congenital anomalies. For example, by improvements in the perioperative management of infants with congenital anomalies requiring surgery and prevention of cerebrovascular accident.…”

Anomalias congênitas em nascidos vivos

“…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) . Em relação ao atendimento às ações previstas nos protocolos de atendimento às gestantes, o estreitamento entre a teoria e a prática nas unidades básicas de saúde incluem: avaliação risco-benefício em casos de necessidade terapêutica; políticas de vacinação; evitar a exposição a fatores de risco ambientais; identificação de fatores de predisposição genética; bem como o empoderamento das mulheres em suas escolhas de estilo de vida, constituem estratégias para o enfrentamento e a redução nos casos de anomalias congênitas na população (32,33) . Apesar das informações do SINASC serem de domínio público irrestrito, estando disponíveis para toda a população, observou-se no presente trabalho a escassez de estudos no estado do Acre.…”

Precisely Where Are We Going? Charting the New Terrain of Precision Prevention

“…Sanitation and immunization are classic examples of primary prevention because they anticipate and forestall the spread of infection. In genetics, primary prevention can include phenotypic forms of prevention, such as reducing exposure to toxic agents during pregnancy or increasing the influence of protective factors, such as glycemic control in mothers with diabetes (109). In medical genetic contexts, genotypic prevention usually refers to interventions that prevent the transmission of deleterious genotypes from one generation to the next.…”