Chapter title |
Primary Prevention of Congenital Anomalies: Special Focus on Environmental Chemicals and other Toxicants, Maternal Health and Health Services and Infectious Diseases
|
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Chapter number | 18 |
Book title |
Rare Diseases Epidemiology: Update and Overview
|
Published in |
Advances in experimental medicine and biology, January 2017
|
DOI | 10.1007/978-3-319-67144-4_18 |
Pubmed ID | |
Book ISBNs |
978-3-31-967142-0, 978-3-31-967144-4
|
Authors |
Domenica Taruscio, Francesca Baldi, Pietro Carbone, Amanda J. Neville, Giovanni Rezza, Caterina Rizzo, Alberto Mantovani, Taruscio, Domenica, Baldi, Francesca, Carbone, Pietro, Neville, Amanda J., Rezza, Giovanni, Rizzo, Caterina, Mantovani, Alberto |
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. |
X Demographics
Geographical breakdown
Country | Count | As % |
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Unknown | 2 | 100% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 2 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 63 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Master | 14 | 22% |
Student > Ph. D. Student | 6 | 10% |
Researcher | 5 | 8% |
Student > Bachelor | 5 | 8% |
Other | 4 | 6% |
Other | 12 | 19% |
Unknown | 17 | 27% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 13 | 21% |
Nursing and Health Professions | 5 | 8% |
Social Sciences | 5 | 8% |
Biochemistry, Genetics and Molecular Biology | 4 | 6% |
Unspecified | 4 | 6% |
Other | 14 | 22% |
Unknown | 18 | 29% |