{"doc_desc":{"title":"Registry of Congenital Malformations in Auvergne (Certified Registry 2012-2015)","idno":"FRESH-PEF230-en","producers":[{"name":"Isabelle PERTHUS","affiliation":"CENTR ETUDE MALFORM CONGEN REGION AUVERG (CEMC AUVERGNE)"}]},"study_desc":{"title_statement":{"idno":"FRESH-PEF230-en","IDno":{"metadata_no":[{"agency":"PEF","code":"230"},{"agency":"FReSH","code":"FRESH-PEF230"}]},"title":"Registry of Congenital Malformations in Auvergne (Certified Registry 2012-2015)","alternate_title":"CEMC-Auvergne"},"study_authorization":{"agency":[]},"authoring_entity":[{"name":"Isabelle;PERTHUS","firstname":"Isabelle","lastname":"PERTHUS","type":"investigator","extlink":[{"title":"SIREN","uri":"419442231","role":"organisation id"}],"email":"iperthus@chu-clermontferrand.fr","affiliationName":"CENTR ETUDE MALFORM CONGEN REGION AUVERG (CEMC AUVERGNE)","PILabo":"CEMC-Auvergne","isContact":true}],"oth_id":[{"name":"","type":"collaboration"}],"production_statement":{"prod_place":"Epidemiology France Portal (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":""},{"name":"AGENCE REGIONALE DE SANTE"},{"name":""}]},"distribution_statement":{"contact":[{"name":"Isabelle;PERTHUS","lastname":"PERTHUS","firstname":"Isabelle","type":"contact","email":"iperthus@chu-clermontferrand.fr","affiliationName":"CENTR ETUDE MALFORM CONGEN REGION AUVERG (CEMC AUVERGNE)","contactPointLabo":"","extlink":[{"uri":"419442231","role":"organisation id","title":"SIREN"}]}]},"study_info":{"keywords":[{"keyword":"prenatal diagnosis"}],"topics":[{"topic":"Paediatrics","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":"Developmental anomalies","vocab":"cim-11","extLink":[{"uri":"http:\/\/id.who.int\/icd\/entity\/223744320","title":"CIM-11"}]},{"topic":"Behavioral determinants: Addiction","vocab":"health determinant"},{"topic":"Biological determinants: Genetic predisposition","vocab":"health determinant"},{"topic":"Healthcare system determinants: Use of care","vocab":"health determinant"},{"topic":"Behavioral determinants","vocab":"health determinant"},{"topic":"Socio-demographic and economic determinants: Employment","vocab":"health determinant"},{"topic":"Biological determinants","vocab":"health determinant"},{"topic":"Healthcare system determinants","vocab":"health determinant"},{"topic":"Socio-demographic and economic determinants","vocab":"health determinant"}],"purpose":"The registry's primary objective is to conduct epidemiological surveillance of congenital malformations in Auvergne, with a role of sounding the alert when any environmental teratogenic agents become evident. With the development of prevention measures - particularly in the field of prenatal diagnosis - this surveillance-alert mission has gradually been extended to include an essential role in evaluating the impact of public health policies with regards to perinatal care on the population. The registry also helps to improve knowledge in the field of malformations by collaborating on studies with specialist clinical departments (particularly genetic and foetal medicine departments) and by being involved in the Multidisciplinary Center for Prenatal Diagnosis in Clermont- Ferrand (the registry's data provides food for thought from obstetricians on the meaning and action to take when certain malformations are observed during prenatal diagnosis). Lastly, the registry's data informs healthcare stakeholders and the public authorities about congenital malformations and chromosomal abnormalities.","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":"Individuals","universe":"{\n    \"level_sex_clusion_I\": [\n        {\n            \"value\": \"Male\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D008297\"\n            }\n        },\n        {\n            \"value\": \"Female\",\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\": \"Infant, Newborn (birth to 28 days)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D007231\"\n            }\n        },\n        {\n            \"value\": \"Infant (28 days to 2 years)\",\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"http:\\\/\\\/id.nlm.nih.gov\\\/mesh\\\/D007223\"\n            }\n        }\n    ],\n    \"level_type_clusion_I\": \"People with disabilities\",\n    \"level_type_clusion_other\": \"\",\n    \"clusion_I\": \"All malformed children are listed, whether stillborn or a live birth after a pregnancy of at least 22 weeks of amenorrhoea, or in the event of therapeutic abortion due to foetal malformation, regardless of term. For children who are born alive, the malformation diagnosis must have been made before the end of their first year of life (infants may be recorded up to 12 months after their birth). All types of malformation are included, whether these concern isolated or polymalformative syndromes, whether or not identified, with normal or abnormal karyotype. \",\n    \"clusion_E\": \"are inborn metabolic errors and minor malformations or deformations (snapping hips without real dislocation, deformed feet, small superficial naevi or angiomas less than 4cm2, inguinal hernia, umbilical hernia not requiring surgery, isolated persistent ductus arteriosus in premature infants weighing less than 2.5kg, hypertrophic pyloric stenosis, single umbilical artery, uni- or bilateral ectopic testis).\"\n}","data_kind":"['Clinical data','Biological data','Socio-demographic data','Paraclinical data (non-biological) : Imaging']","quality_statement":{"standards":[{"name":"['ICD 10, ATC.']","committee":"","governance":""}],"other_quality_statement":""}},"study_development":{"development_activity":[{"activity_type":"primary evaluation","activity_description":"Health event\/morbidity\r\nHealth event\/mortality"}]},"method":{"data_collection":{"time_method":"","frequency":"","sampling_procedure":"['{\"concept\":{\"vocabURI\":\"Other\",\"vocab\":\"CESSDA\"},\"value\":\"Other\"}']","sample_frame":{"frame_unit":{"unit_type":""}},"coll_mode":["{\"concept\":{\"vocabURI\":\"Other\",\"vocab\":\"CESSDA\"},\"value\":\"Other\"}"],"research_instrument":"Access on specific project only","sources":[],"target_sample_size":"[10000-20000[ individuals","response_rate":"10 145 patients (1983-2011)"},"method_notes":"Observational Study","study_class":"Unknown","notes":[{"subject":"research type","values":["Observational Study"]},{"subject":"observational study method","values":["Morbidity registry"]}]},"data_access":{"dataset_availability":{"access_place":"","complete":"","status":"{\"value\":\"Restricted access\",\"extLink\":[{\"title\":\"COAR\",\"uri\":\"http:\/\/purl.org\/coar\/access_right\/c_16ec\"}]}"},"dataset_use":{"restrictions":"","conditions":"By request to the scientist in charge.","conf_dec":[{"txt":""}],"spec_perm":[{"txt":"","required":""}],"contact":[{"name":""}],"deposit_req":"","cit_req":""},"notes":""}},"additional":{"IsImport":true,"versionLang":"en","originLang":"en","autoTranslation":false,"status":"imported","creationDate":"03-01-2011","lastUpdatedAuto":null,"lastUpdatedManual":"05-09-2017","isContributorPI":false,"contributorName":"","contributorAffiliation":"","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)","Private non-profit","Public (France)","Public (France)"],"otherFundingAgentType":["","","","",""]},"sponsor":{"sponsorType":["Public (France)"],"otherSponsorType":[""]},"governance":{"committee":""},"collaborations":{"networkConsortium":""},"theme":{"complementaryInformation":"","RareDiseases":true},"activeFollowUp":{"isActiveFollowUp":true,"followUpModeOther":""},"interventionalStudy":{"researchPurpose":[],"trialPhase":[],"interventionalStudyModel":"","isClinicalTrial":"","otherResearchPurpose":""},"isInclusionGroups":"","allocation":{"allocationMode":"","allocationUnit":""},"masking":{"maskingType":"","blindedMaskingDetails":[]},"arms":[],"intervention":[],"inclusionGroups":[],"collectionProcess":{"collectionModeDetails":"primarily active +\/- passive.","collectionModeOther":""},"dataCollection":{"inclusionStrategyOther":"","samplingModeOther":"","recruitmentSourceOther":"","otherDocumentation":""},"dataCollectionIntegration":{"isDataIntegration":false},"geographicalCoverage":{"geoDetail":"Auvergne"},"dataTypes":{"clinicalDataDetails":"","biologicalDataDetails":"cytogenetic examinations, maternal serum markers.","isDataInBiobank":false,"biobankContent":[],"biobankContentOther":"","dataTypeOther":""},"variableDictionnary":{"variableDictionnaryAvailable":"","variableDictionnaryLink":""},"dataQuality":{"otherDocumentation":""},"mockSample":{"mockSampleAvailable":"","mockSampleLocation":""},"thirdPartySource":{"otherSourceType":[]},"isHealthTheme":true,"fileDscr":{"fileTxt":{"fileCitation":{"titlStmt":{"IDno":[]}}}}},"schematype":"survey"}