{"doc_desc":{"title":"Centre d\u2019Etude des Malformations Cong\u00e9nitales en Auvergne","idno":"FRESH-PEF230-fr","producers":[{"name":"Isabelle PERTHUS","affiliation":"CENTR ETUDE MALFORM CONGEN REGION AUVERG (CEMC AUVERGNE)"}]},"study_desc":{"title_statement":{"idno":"FRESH-PEF230-fr","IDno":{"metadata_no":[{"agency":"PEF","code":"230"},{"agency":"FReSH","code":"FRESH-PEF230"}]},"title":"Centre d\u2019Etude des Malformations Cong\u00e9nitales en Auvergne","alternate_title":"CEMC-Auvergne"},"study_authorization":{"agency":[{"name":"CNIL"}]},"authoring_entity":[{"type":"investigator","name":"Isabelle;PERTHUS","PILabo":"CEMC-Auvergne","affiliationName":"CENTR ETUDE MALFORM CONGEN REGION AUVERG (CEMC AUVERGNE)","extlink":[{"title":"ORCID","uri":"0000-0002-3845-6180","role":"pi id"},{"title":"IdRef","uri":"095143483","role":"pi id"},{"title":"SIREN","uri":"419442231","role":"organisation id"},{"title":"","uri":"","role":"labo id"}],"email":"iperthus@chu-clermontferrand.fr","isContact":"Oui"}],"oth_id":[{"name":"collaboration avec les 5 autres registres nationaux de malformations cong\u00e9nitales (Antilles, Bretagne, Paris, REMERA, R\u00e9union), liens avec SP France, l'ANSM, le RSPA (r\u00e9seau de sant\u00e9 p\u00e9rinatale d'Auvergne)","type":"collaboration"}],"production_statement":{"prod_place":"Portail Epid\u00e9miologie France (PEF)","producers":[{"name":"CENTRE HOSPITALIER UNIVERSITAIRE DE CLERMONT-FERRAND","extlink":[{"title":"ROR","uri":"https:\/\/ror.org\/02tcf7a68","role":"sponsor id"},{"title":"SIREN","uri":"266307461","role":"sponsor id"}],"role":"sponsor"}],"funding_agencies":[{"name":"INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)","extlink":[{"title":"ROR","uri":"https:\/\/ror.org\/02vjkv261"},{"title":"SIREN","uri":"180036048"}]},{"name":"SANTE PUBLIQUE FRANCE","extlink":[{"title":"ROR","uri":"https:\/\/ror.org\/00dfw9p58"},{"title":"SIREN","uri":"130022338"}]},{"name":"","extlink":[]},{"name":"AGENCE REGIONALE DE SANTE","extlink":[]},{"name":"","extlink":[]}]},"distribution_statement":{"contact":[{"name":"Isabelle;PERTHUS","email":"iperthus@chu-clermontferrand.fr","type":"contact","affiliationName":"CENTR ETUDE MALFORM CONGEN REGION AUVERG (CEMC AUVERGNE)","contactPointLabo":"","extlink":[{"uri":"419442231","role":"organisation id","title":"SIREN"}]}]},"study_info":{"keywords":[{"keyword":"diagnostic pr\u00e9natal (type"},{"keyword":"sensibilit\u00e9)"},{"keyword":"expositions m\u00e9dicamenteuses"}],"topics":[{"topic":"P\u00e9diatrie","vocab":"health theme","extLink":[{"title":"ESV","uri":"http:\/\/data.europa.eu\/8mn\/euroscivoc\/bf8aaaac-ddee-41cd-bb8a-c5a63de3fcbd"},{"title":"MeSH","uri":"http:\/\/id.nlm.nih.gov\/mesh\/D010372"}]},{"topic":"Anomalies du d\u00e9veloppement","vocab":"cim-11","extLink":[{"uri":"http:\/\/id.who.int\/icd\/entity\/223744320","title":"CIM-11"}]},{"topic":"D\u00e9terminants comportementaux : Addictions","vocab":"health determinant"},{"topic":"D\u00e9terminants biologiques : Pr\u00e9dispositions g\u00e9n\u00e9tiques","vocab":"health determinant"},{"topic":"D\u00e9terminants li\u00e9s au syst\u00e8me de sant\u00e9 : Consommation des soins","vocab":"health determinant"},{"topic":"D\u00e9terminants comportementaux","vocab":"health determinant"},{"topic":"D\u00e9terminants socio-d\u00e9mographiques et \u00e9conomiques : Emploi","vocab":"health determinant"},{"topic":"D\u00e9terminants biologiques","vocab":"health determinant"},{"topic":"D\u00e9terminants li\u00e9s au syst\u00e8me de sant\u00e9","vocab":"health determinant"},{"topic":"D\u00e9terminants socio-d\u00e9mographiques et \u00e9conomiques","vocab":"health determinant"}],"purpose":"L\u2019objectif premier du registre est d\u2019assurer la surveillance \u00e9pid\u00e9miologique des malformations cong\u00e9nitales en Auvergne, avec un r\u00f4le d\u2019alerte face \u00e0 d\u2019\u00e9ventuels agents t\u00e9ratog\u00e8nes environnementaux. Avec le d\u00e9veloppement des mesures de pr\u00e9vention, notamment dans le domaine du diagnostic pr\u00e9natal, cette mission de surveillance-alerte a progressivement \u00e9t\u00e9 compl\u00e9t\u00e9e par un r\u00f4le primordial d\u2019\u00e9valuation en population de l\u2019impact des politiques de sant\u00e9 publique dans le domaine de la p\u00e9rinatalit\u00e9. Le registre participe \u00e9galement \u00e0 l\u2019am\u00e9lioration des connaissances dans le champ des malformations en collaborant \u00e0 des \u00e9tudes avec les services cliniques sp\u00e9cialis\u00e9s (notamment services de g\u00e9n\u00e9tique et de m\u00e9decine foetale) et en s\u2019impliquant au sein du Centre Pluridisciplinaire de Diagnostic Pr\u00e9natal de Clermont- Ferrand (les donn\u00e9es du registre contribuent \u00e0 la r\u00e9flexion des obst\u00e9triciens sur la signification et la conduite \u00e0 tenir devant telles ou telles malformations observ\u00e9es en diagnostic pr\u00e9natal). Les donn\u00e9es du registre contribuent enfin \u00e0 l\u2019information des acteurs de la Sant\u00e9 et des pouvoirs publics en ce qui concerne les malformations cong\u00e9nitales et anomalies chromosomiques.","abstract":"","coll_dates":[{"start":"1983-01-01"}],"nation":[{"name":"France","abbreviation":"fr","extLink":{"vocab":"ISO","vocabURI":"fr"}}],"geog_coverage":"['Auvergne Rh\u00f4ne-Alpes']","analysis_unit":"Individus","universe":"{\n    \"level_sex_clusion_I\": [\n        {\n            \"value\": \"Masculin\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D008297\"\n            }\n        },\n        {\n            \"value\": \"F\u00e9minin\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D005260\"\n            }\n        }\n    ],\n    \"level_age_clusion_I\": [\n        {\n            \"value\": \"Nouveau-n\u00e9 (naissance \u00e0 28j)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D007231\"\n            }\n        },\n        {\n            \"value\": \"Nourrisson (28j \u00e0 2 ans)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D007223\"\n            }\n        }\n    ],\n    \"level_type_clusion_I\": \"Personnes en situation de handicap\",\n    \"level_type_clusion_other\": \"\",\n    \"clusion_I\": \"Tous les enfants malform\u00e9s sont recens\u00e9s, qu\u2019ils soient n\u00e9s vivants ou mort-n\u00e9s apr\u00e8s une grossesse de 22 semaines d\u2019am\u00e9norrh\u00e9e (SA) au moins ou que la grossesse ait \u00e9t\u00e9 interrompue pour malformation foetale quel qu\u2019en soit le terme. Pour les enfants n\u00e9s vivants, le diagnostic de malformation doit avoir \u00e9t\u00e9 effectu\u00e9 avant la fin de la premi\u00e8re ann\u00e9e de vie, les enfants pouvant \u00eatre enregistr\u00e9s jusqu\u2019\u00e0 12 mois apr\u00e8s leur naissance. Tous les types de malformations sont pris en compte, qu\u2019il s\u2019agisse de malformations isol\u00e9es ou de syndromes polymalformatifs identifi\u00e9s ou non identifi\u00e9s, \u00e0 caryotype normal ou anormal. \",\n    \"clusion_E\": \"Seules sont exclues les erreurs inn\u00e9es du m\u00e9tabolisme et les malformations mineures ou d\u00e9formations (les ressauts de hanches sans luxation vraie, les d\u00e9formations du pied, les petits angiomes ou naevi de surface inf\u00e9rieure \u00e0 4 cm2, les hernies inguinales, les hernies ombilicales ne n\u00e9cessitant pas de chirurgie, les persistances de canal art\u00e9riel isol\u00e9s chez les enfants pr\u00e9matur\u00e9s d\u2019un poids inf\u00e9rieur \u00e0 2 500 g, les st\u00e9noses hypertrophiques du pylore, les art\u00e8res ombilicales uniques, les ectopies testiculaires uni-ou bilat\u00e9rales).\"\n}","data_kind":"['Donn\u00e9es cliniques','Donn\u00e9es paracliniques','Donn\u00e9es biologiques','Donn\u00e9es socio-d\u00e9mographiques','Donn\u00e9es paracliniques (hors biologiques) : Imagerie']","quality_statement":{"standards":[{"name":"['CIM 10, ATC']","committee":"","governance":""}],"other_quality_statement":""}},"study_development":{"development_activity":[{"activity_type":"primary evaluation","activity_description":"Ev\u00e9nements de sant\u00e9\/morbidit\u00e9\r\nEv\u00e9nements de sant\u00e9\/mortalit\u00e9"}]},"method":{"data_collection":{"time_method":"","frequency":"","sampling_procedure":"['{\"concept\":{\"vocabURI\":\"Other\",\"vocab\":\"CESSDA\"},\"value\":\"Autre\"}']","sample_frame":{"frame_unit":{"unit_type":""}},"coll_mode":["{\"concept\":{\"vocabURI\":\"Other\",\"vocab\":\"CESSDA\"},\"value\":\"Autre\"}"],"research_instrument":"Acc\u00e8s restreint sur projet sp\u00e9cifique","sources":[],"target_sample_size":"[10000-20000[ individus","response_rate":"13 000 patients (1983-2017)"},"method_notes":"Etude observationnelle","study_class":"Inconnu","notes":[{"subject":"research type","values":["Etude observationnelle"]},{"subject":"observational study method","values":["Registre de morbidit\u00e9"]}]},"data_access":{"dataset_availability":{"access_place":"","complete":"","status":"{\"value\":\"Acc\u00e8s r\u00e9serv\u00e9\",\"extLink\":[{\"title\":\"COAR\",\"uri\":\"http:\/\/purl.org\/coar\/access_right\/c_16ec\"}]}"},"dataset_use":{"restrictions":"","conditions":"Sur demande aupr\u00e8s du responsable scientifique","conf_dec":[{"txt":""}],"spec_perm":[{"txt":"","required":""}],"contact":[{"name":""}],"deposit_req":"","cit_req":""},"notes":""}},"additional":{"IsImport":true,"versionLang":"fr","originLang":"fr","autoTranslation":false,"status":"imported","creationDate":"03-01-2011","lastUpdatedAuto":null,"lastUpdatedManual":"05-09-2017","isContributorPI":"Non","contributorName":"Isabelle PERTHUS","contributorAffiliation":"CENTR ETUDE MALFORM CONGEN REGION AUVERG (CEMC AUVERGNE)","addTeamMember":"","obtainedAuthorization":{"otherAuthorizingAgency":[""]},"relatedDocument":[{"type":"","title":"Liste des publications dans Pubmed","link":"http:\/\/tinyurl.com\/PUBMED-CEMC"}],"regulatoryRequirements":{"conformityDeclaration":""},"fundingAgent":{"fundingAgentType":["Public (France)","Public (France)","Priv\u00e9 \u00e0 but non lucratif","Public (France)","Public (France)"],"otherFundingAgentType":["","","","",""]},"sponsor":{"sponsorType":["Public (France)"],"otherSponsorType":[""]},"governance":{"committee":""},"collaborations":{"networkConsortium":"Oui"},"theme":{"complementaryInformation":"","RareDiseases":"Oui"},"activeFollowUp":{"isActiveFollowUp":"Oui","followUpModeOther":""},"interventionalStudy":{"researchPurpose":[],"trialPhase":[],"interventionalStudyModel":"","isClinicalTrial":"","otherResearchPurpose":""},"isInclusionGroups":"","allocation":{"allocationMode":"","allocationUnit":""},"masking":{"maskingType":"","blindedMaskingDetails":[]},"arms":[],"intervention":[],"inclusionGroups":[],"collectionProcess":{"collectionModeDetails":"essentiellement actif +\/- passif","collectionModeOther":""},"dataCollection":{"inclusionStrategyOther":"","samplingModeOther":"","recruitmentSourceOther":"","otherDocumentation":""},"dataCollectionIntegration":{"isDataIntegration":"Non"},"geographicalCoverage":{"geoDetail":"Auvergne"},"dataTypes":{"clinicalDataDetails":"","biologicalDataDetails":"examens cytog\u00e9n\u00e9tiques, marqueurs s\u00e9riques maternels","isDataInBiobank":"Non","biobankContent":[],"biobankContentOther":"","dataTypeOther":""},"variableDictionnary":{"variableDictionnaryAvailable":"","variableDictionnaryLink":""},"dataQuality":{"otherDocumentation":""},"mockSample":{"mockSampleAvailable":"","mockSampleLocation":""},"thirdPartySource":{"otherSourceType":[]},"isHealthTheme":"Oui","fileDscr":{"fileTxt":{"fileCitation":{"titlStmt":{"IDno":[]}}}}},"schematype":"survey"}