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Prevention, Diagnosis and Services

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Rare Diseases Epidemiology

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 686))

Abstract

This chapter summarizes how prevention, diagnosis and services can result from the activities of a research programme on the group of rare diseases constituted by congenital anomalies. The Spanish Collaborative Study of Congenital Malformations (ECEMC) is a research programme based on a case-control registry of consecutive newborn infants with congenital anomalies. Its aim is the prevention of this group of rare diseases, through the research on their causes and pathogenesis, combined with the translational activity to transfer the benefits of this knowledge to the general population and health care providers. Its experience could be applied to the research on other rare diseases. The different levels of prevention (primary, secondary, tertiary and quaternary) are briefly defined, and the way in which these levels are being applied or can be applied to congenital defects prevention is reviewed. The main primary prevention measures regarding congenital anomalies are also detailed. To this respect, the benefits derived from the activity of Teratology Information Services (TIS), for the general population as well as for health care providers, are explained. It is finally emphasized how the epidemiological data can contribute to the prevention of that group of rare diseases.

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Abbreviations

RD:

Rare disease(s)

CD:

Congenital defects

TIS:

Teratology information service(s)

ToP:

Termination(s) of pregnancy

ECEMC:

Spanish Collaborative Study of Congenital Malformations

ENTIS:

European Network of Teratology Information Services

OTIS:

Organization of Teratology Information Specialists

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Authors and Affiliations

  1. Rare Diseases Research Institute (IIER), Instituto de Salud Carlos III, Madrid, Spain

    Eva Bermejo

  2. ECEMC (Spanish Collaborative Study of Congenital Malformations), CIAC (Research Center on Congenital Anomalies), Instituto de Salud Carlos III, Madrid, Spain

    Eva Bermejo

  3. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain

    Eva Bermejo

  4. ECEMC, CIAC, and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain

    María Luisa Martínez-Frías PhD

  5. Department of Pharmacology, Faculty of Medicine, Universidad Complutense de Madrid, Madrid, Spain

    María Luisa Martínez-Frías PhD

Authors
  1. Eva Bermejo
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  2. María Luisa Martínez-Frías PhD
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Correspondence to Eva Bermejo .

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Editors and Affiliations

  1. , Instituto de Investigaciñon en Enfermeda, Instituto de Salud Carlos III, Monforte de Lemos 5, Madrid, 28029, Spain

    Manuel Posada de la Paz

  2. , Office of Rare Diseases Research, National Institutes of Health, Executive Boulevard 6100, Bethesda, 20892-7518, USA

    Stephen C. Groft

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Bermejo, E., Martínez-Frías, M.L. (2010). Prevention, Diagnosis and Services. In: Posada de la Paz, M., Groft, S. (eds) Rare Diseases Epidemiology. Advances in Experimental Medicine and Biology, vol 686. Springer, Dordrecht. https://doi.org/10.1007/978-90-481-9485-8_4

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