摘要：Figures See all figures Authors Elisabeth Robert-Gnansia , Emmanuelle Amar , Christine Francannet , Marie-Hélène Patouraux , Isabelle Bethenod , Ghislaine Desvignes , Danièle Pelamourgues , Jean Khoury , Isabelle Dumas , Virginie Saez , Jean-Claude Laborier , Catherine Cuoq , Florence Gaumet Institut européen des génomutations, 86, rue Edmond-Locard, 69005 Lyon, France, Centre d’Etude des Malformations Congénitales (CEMC) Auvergne, BP 31, 63401 Chamalières cedex, Consultation de génétique Centre hospitalier, 58020 Nevers cedex, Centre de protection maternelle et infantile (PMI) de la Côte-d’Or Conseil Général de Côte-d’Or, 1 rue Joseph Tissot, 21000 Dijon, Service de génétique, Hôpital du Bocage, 21000 Dijon, Protection maternelle et infantile (PMI) de Saône-et-Loire, Centre médico-social, 71600 Paray le Monial, Protection maternelle et infantile (PMI) du Jura, Centre médico-social, 14 rue Rosset, 39200 Saint-Claude Key words: abnormalities, multiple, France, population surveillance, registries Page(s) : 385-93 Published in: 2005 Of the methods and systems of epidemiologic surveillance, registries are the system most appropriate for surveillance of birth defects. We describe the French Center-East registry, currently set up as part of the European Genomutations Institute (IEG) in Lyon. Its broad geographic coverage includes mountains areas and plains, industrial districts and agricultural zones, urban and rural municipalities. Its objectives, beyond etiological research through surveillance and epidemiologic studies, are to provide information to the authorities and to the public about risk factors and to help in planning and measuring the impact of health policies affecting birth. The registry monitors approximately 100 000 births per year, between 12 and 13% of French births. It uses multiple sources of information, including hospital maternity and pediatrics departments (which participate on a voluntary basis). Information is collected on standardized forms. Before the data are entered, they are validated by a physician specializing in genetics and then coded. Surveillance involves systematic quarterly analysis of the data, incomplete and provisional, to identify any situations requiring alerts. The final annual data are published in the yearly Dysplasie report. They are then transmitted to Rome, to the international clearinghouse for birth defects monitoring systems (ICBDSR : www.icbd.org). The National Commission for information technology and privacy has approved our data collection and processing. Several clusters (in time and space) of malformations have been investigated. The principal studies are described; none resulted in identifying a specific risk factor. The registry data suggested and then confirmed a previously unknown teratogenic effect : that of sodium valproate (Depakene ®) for spina bifida. The current consideration of sodium valproate use as an indication for prenatal diagnosis is a new public health policy due to the work of our registry. Finally, we describe epidemiologic studies that use the data collected by the registry; these involve most of the principal types of birth defects.
关键词：abnormalities; multiple; France; population surveillance; registries
