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Congenital Anomalies: Cluster Detection and Investigation

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Rare Diseases Epidemiology: Update and Overview

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 1031))

Abstract

This work summarizes the main aspects to be considered around birth defects (or congenital anomalies) clusters. Most birth defects (BD), considered individually, fall into the definition of rare diseases (RD), according to their low frequency. Likewise, many RD are congenital, because their manifestations are present at birth or can be even evident before the delivery. It has been estimated that overall 7.9 million children are born each year with serious BD of genetic or partially genetic origin, and additional hundreds of thousands more are born with serious BD of post-conception origin.

A “birth defect cluster” can be defined as an unusual aggregation of cases (grouped in place and time) that is suspected to be greater than expected, even though the expected number may not be known. These clusters are incidents or occurrences that let us turn the challenge of identifying the causal agent(s) involved in the origin of such clusters, into an opportunity to exert primary prevention, and thus achieve the ultimate goal of enabling infants being born healthy. Therefore, any program or system involved in BD surveillance and research should devote part of its activities to detect and investigate clusters, to ensure that such opportunity for primary prevention will be conveniently leveraged. Regardless the type of cluster, there are several phases that must be undertaken sequentially for proper control and the maximum benefit for the population: cluster detection, evaluation and investigation, management, adoption of preventive measures, and communication of the results to the public or target population.

Birth defect clusters are incidents that let us turn a challenge into an opportunity for primary prevention

Bermejo and Posada, 2017

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Abbreviations

BD:

Birth defects

CDC:

Centers for Disease Control

EUROCAT:

European surveillance of Congenital Anomalies

ICBDSR:

International Clearinghouse for Birth Defects Surveillance and Research

NBDPN:

National Birth Defects Prevention Network

RD:

Rare diseases

WHO:

World Health Organization

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Author information

Authors and Affiliations

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

    Eva Bermejo-Sánchez

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

    Eva Bermejo-Sánchez

  3. CIBER de Enfermedades Raras (CIBERER) (Centre for Biomedical Research on Rare Diseases), Madrid, Spain

    Eva Bermejo-Sánchez

  4. RDR and CIBERER, Instituto de Salud Carlos III, Madrid, Spain

    Manuel Posada de la Paz

Authors
  1. Eva Bermejo-Sánchez
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  2. Manuel Posada de la Paz
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Correspondence to Eva Bermejo-Sánchez .

Editor information

Editors and Affiliations

  1. RDR and CIBERER, Instituto de Salud Carlos III, Madrid, Spain

    Manuel Posada de la Paz

  2. Centro Nazionale Malattie Rare, Istituto Superiore di Sanita, Roma, Italy

    Domenica Taruscio

  3. National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, Maryland, USA

    Stephen C. Groft

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Bermejo-Sánchez, E., Posada de la Paz, M. (2017). Congenital Anomalies: Cluster Detection and Investigation. In: Posada de la Paz, M., Taruscio, D., Groft, S. (eds) Rare Diseases Epidemiology: Update and Overview. Advances in Experimental Medicine and Biology, vol 1031. Springer, Cham. https://doi.org/10.1007/978-3-319-67144-4_29

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