Primary prevention of congenital anomalies: Special focus on environmental chemicals and other toxicants, maternal health and health services and infectious diseases

Domenica Taruscio, Francesca Baldi, Pietro Carbone, Amanda J. Neville, Giovanni Rezza, Caterina Rizzo, Alberto Mantovani

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Congenital anomalies (CA) represent an important fraction of rare diseases, due to the critical role of non-genetic factors in their pathogenesis. CA are the main group of rare diseases in which primary prevention measures will have a beneficial impact. Indeed, since 2013 the European Union has endorsed a body of evidence-based recommendations for CA primary prevention; the recommendations aim at facilitating the inclusion of primary prevention actions the National Rare Disease Plans of EU Member States and encompass different public health fields, from environment through to maternal diseases and lifestyles. The chapter overviews and discusses the assessment of main risk factors for CA, such as environmental toxicants, maternal health and lifestyles and infections, with a special attention to issues that are emerging or need more knowledge. Overall, the availability of CA registries is important for estimating the health burden of CA, identifying possible hotspots, assessing the impact of interventions and addressing further, fit-to-purpose research. The integration of relevant public health actions that are already in place (e.g., control of noxious chemicals, vaccination programmes, public health services addressing chronic maternal conditions) can increase the affordability and sustainability of CA primary prevention. In developing countries with less primary prevention in place and limited overall resources, a first recognition phase may be pivotal in order to identify priority targets. In the meanwhile, policy makers should be made aware that primary prevention of RD supports publicly endorsed societal values like the knowledge-based promotion of health, empowerment, equity and social inclusiveness.

Original languageEnglish
Title of host publicationAdvances in Experimental Medicine and Biology
PublisherSpringer New York LLC
Pages301-322
Number of pages22
DOIs
Publication statusPublished - Jan 1 2017

Publication series

NameAdvances in Experimental Medicine and Biology
Volume1031
ISSN (Print)0065-2598
ISSN (Electronic)2214-8019

Keywords

  • Congenital anomalies
  • Environmental chemicals
  • Health services
  • Infectious diseases
  • Maternal health
  • Primary prevention

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

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  • Cite this

    Taruscio, D., Baldi, F., Carbone, P., Neville, A. J., Rezza, G., Rizzo, C., & Mantovani, A. (2017). Primary prevention of congenital anomalies: Special focus on environmental chemicals and other toxicants, maternal health and health services and infectious diseases. In Advances in Experimental Medicine and Biology (pp. 301-322). (Advances in Experimental Medicine and Biology; Vol. 1031). Springer New York LLC. https://doi.org/10.1007/978-3-319-67144-4_18