0000000000283125

AUTHOR

Elisa Calzolari

showing 8 related works from this author

Paper 6: EUROCAT member registries: organization and activities.

2011

BACKGROUND: EUROCAT is a network of population-based congenital anomaly registries providing standardized epidemiologic information on congenital anomalies in Europe. There are three types of EUROCAT membership: full, associate, or affiliate. Full member registries send individual records of all congenital anomalies covered by their region. Associate members transmit aggregate case counts for each EUROCAT anomaly subgroup by year and by type of birth. This article describes the organization and activities of each of the current 29 full member and 6 associate member registries of EUROCAT. METHODS: Each registry description provides information on the history and funding of the registry, popu…

EmbryologyPediatricsDatabases FactualENGLANDMultiple congenital anomalyAge limit0302 clinical medicinePregnancyPrenatal DiagnosisPrevalenceConfidentiality030212 general & internal medicineRegistriesRISK0303 health scienceseducation.field_of_studyFetal death030305 genetics & hereditycongenital anomaly registriesGeneral MedicineorganizationStillbirthascertainment3. Good healthComputer algorithmEuropeCONGENITAL-ANOMALIESPrenatal screeningEvaluation Studies as TopicPopulation SurveillanceCommittee MembershipFemaleMedical emergencymedicine.medical_specialtyPopulationPopulation basedCongenital Abnormalities03 medical and health sciencesmedicineHumanseducationFetal DeathInternetbusiness.industryRENACAbortion InducedEstados de Saúde e de Doençamedicine.diseasepopulation-basedcongenital anomalies ; Europe ; multiple congenital anomaly ; computer algorithm ; classification ; surveillance ; etiologyPediatrics Perinatology and Child HealthbusinessDevelopmental BiologyBirth defects research. Part A, Clinical and molecular teratology
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Spectrum of congenital anomalies in pregnancies with pregestational diabetes

2012

BACKGROUND Maternal pregestational diabetes is a well-known risk factor for congenital anomalies. This study analyses the spectrum of congenital anomalies associated with maternal diabetes using data from a large European database for the population-based surveillance of congenital anomalies. METHODS: Data from 18 population-based EUROCAT registries of congenital anomalies in 1990-2005. All malformed cases occurring to mothers with pregestational diabetes (diabetes cases) were compared to all malformed cases in the same registry areas to mothers without diabetes (non-diabetes cases). RESULTS: There were 669 diabetes cases and 92,976 non diabetes cases. Odds ratios in diabetes pregnancies re…

MaleEmbryologyPediatricsPregestational DiabetesPregnancy in DiabeticsMELLITUSPregnancyRisk FactorsNeural Tube DefectsRegistriesLivebirthsRISKeducation.field_of_studyOUTCOMESlivebirthsWOMENEarGeneral MedicineASSOCIATIONCongenital AnomaliesEuropeAnotiaPopulation SurveillanceFemaleNEURAL-TUBE DEFECTSLive BirthHernia UmbilicalAdultHeart Defects Congenitalmedicine.medical_specialtyPopulationPopulation Basedpopulation basedCongenital AbnormalitiesYoung AdultDiabetes mellitusAnencephalyBIRTH-DEFECTSmedicineDiabetes MellitusHumansMALFORMATIONSRisk factoreducationTYPE-1Congenital MicrotiaOmphaloceleSpina bifidabusiness.industrycongenital anomaliesInfant NewbornOdds ratioNATIONWIDEmedicine.diseaseEstados de Saúde e de Doençapregestational diabetesPregnancy ComplicationsPediatrics Perinatology and Child HealthbusinessDevelopmental BiologyBirth Defects Research. Part A: Clinical and Molecular Teratology
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Hirschsprung's disease prevalence in Europe: A register based study

2014

Background: Hirschsprung's disease is a congenital gut motility disorder, characterised by the absence of the enteric ganglion cells along the distal gut. The aim of this study was to describe the epidemiology of Hirschsprung's disease, including additional congenital anomalies, total prevalence, trends, and association with maternal age. Methods: Cases of Hirschsprung's disease delivered during 1980 to 2009 notified to 31 European Surveillance of Congenital Anomaly registers formed the population-based case-series. Prevalence rates and 95% confidence intervals were calculated as the number of cases per 10,000 births. Multilevel Poisson regression was performed to investigate trends in prev…

Embryologyeducation.field_of_studymedicine.medical_specialtyPediatricsbusiness.industryPopulationPrevalenceGeneral Medicinemedicine.diseaseConfidence intervalsymbols.namesakeRelative riskPediatrics Perinatology and Child HealthEpidemiologymedicineCredible intervalsymbolsPoisson regressioneducationbusinessHirschsprung's diseaseDevelopmental BiologyBirth Defects Research Part A: Clinical and Molecular Teratology
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Seasonality of Congenital Anomalies in Europe

2014

BackgroundThis study describes seasonality of congenital anomalies in Europe to provide a baseline against which to assess the impact of specific time varying exposures such as the H1N1 pandemic influenza, and to provide a comprehensive and recent picture of seasonality and its possible relation to etiologic factors. Methods: Data on births conceived in 2000 to 2008 were extracted from 20 European Surveillance for Congenital Anomalies population-based congenital anomaly registries in 14 European countries. We performed Poisson regression analysis encompassing sine and cosine terms to investigate seasonality of 65,764 nonchromosomal and 12,682 chromosomal congenital anomalies covering 3.3 mi…

MaleEmbryologyPediatricsEpidemiologySeasonal variationANENCEPHALUSEpidemiologySWEDENAnencephalusRegistriesAbnormalities ; Congenital ; Seasonal Variation ; Epidemiology ; Public health ; Influenza ; Humaneducation.field_of_studyPublic healthAnomaly (natural sciences)public healthGeneral MedicineEuropeDISLOCATIONsymbolsFemaleepidemiologyNEURAL-TUBE DEFECTSSeasonsabnormalitiesHumanmedicine.medical_specialtyPopulationSPINA-BIFIDAHYPERTHERMIAInfluenza humanCongenital Abnormalitiessymbols.namesakeBIRTH-DEFECTSmedicineHumansMALFORMATIONSPoisson regressioneducationRetrospective StudiesHIPSpina bifidabusiness.industryInfant NewborncongenitalInfantSeasonal Variationmedicine.diseaseInfluenzaSitus inversusAbnormalities congenitalDysplasiaPediatrics Perinatology and Child HealthRISK-FACTORSbusinessDevelopmental Biology
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Epidemiology of multiple congenital anomalies in Europe : A EUROCAT population-based registry study

2014

BACKGROUND: This study describes the prevalence, associated anomalies, and demographic characteristics of cases of multiple congenital anomalies (MCA) in 19 population-based European registries (EUROCAT) covering 959,446 births in 2004 and 2010.METHODS: EUROCAT implemented a computer algorithm for classification of congenital anomaly cases followed by manual review of potential MCA cases by geneticists. MCA cases are defined as cases with two or more major anomalies of different organ systems, excluding sequences, chromosomal and monogenic syndromes.RESULTS: The combination of an epidemiological and clinical approach for classification of cases has improved the quality and accuracy of the M…

MaleEmbryologyPediatricsEpidemiologyPrenatal diagnosisINFANTSPregnancyEpidemiologyPrevalenceMedicineRegistrieseducation.field_of_studyAutomatic Data ProcessingGeneral MedicineClassificationEpidemiology ; Multiple congenital anomalies ; Classification ; Prevalence ; Prenatal diagnosisComputer algorithmEuropeclassificationcardiovascular systemFemaleepidemiologyPopulation-Based RegistryAlgorithmscirculatory and respiratory physiologymedicine.medical_specialtyPopulationprevalencePrenatal diagnosismultiple congenital anomaliesBIRTH-DEFECTSHumansAbnormalities MultipleMALFORMATIONSRATEScardiovascular diseaseseducationRetrospective StudiesElectronic Data ProcessingPregnancyprenatal diagnosisbusiness.industryPublic healthRetrospective cohort studymedicine.diseasenervous system diseasesPediatrics Perinatology and Child HealthMultiple congenital anomaliesPATTERNSbusinessDevelopmental Biology
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Prenatal diagnosis and epidemiology of multicystic kidney dysplasia in Europe

2014

ObjectivesThe aim of this study is to describe the prenatal diagnosis and epidemiology of multicystic kidney dysplasia (MCKD). MethodsThe study is based on routinely collected data from a European database of major congenital anomalies including 13 registries with cases born in 1997-2006 and covering 1458552 births. ResultsThere were 601 MCKD cases giving an overall prevalence of 4.12 per 10000 births with regional variation. In live births, 87% of cases had an isolated renal anomaly and 13% had associated major nonrenal anomalies (chromosomal, syndrome or other major anomalies). For the cases with isolated renal anomalies, 51/386 (11%) and 7/386 (2%) choose to terminate the pregnancy or re…

medicine.medical_specialtyPediatricsPregnancyMulticystic Kidney DysplasiaFetal deathbusiness.industryObstetrics and GynecologyPrenatal diagnosismedicine.diseaseRenal anomalyEpidemiologyMedicineDetection ratebusinessGenetics (clinical)Prenatal Diagnosis
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Fraser syndrome: epidemiological study in a European population

2013

Fraser syndrome is a rare autosomal recessive disorder characterized by cryptophthalmos, cutaneous syndactyly, laryngeal, and urogenital malformations. We present a population-based epidemiological study using data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network of birth defect registries. Between January 1990 and December 2008, we identified 26 cases of Fraser syndrome in the monitored population of 12, 886, 464 births (minimal estimated prevalence of 0.20 per 100, 000 or 1:495, 633 births). Most cases (18/26 ; 69%) were registered in the western part of Europe, where the mean prevalence is 1 in 230, 695 births, compared to the prevalence 1 in 1, 091, 175 fo…

CryptophthalmosMalemedicine.medical_specialtyEpidemiologyAnorectal anomaliesPopulationprevalencePrevalencePrenatal diagnosisinduced abortionCongenital abnormalitiesPregnancyInduced abortionGeneticsPrevalenceMedicineHumansCRITERIASyndactylyRegistriesPRENATAL-DIAGNOSISeducationFraser syndromeRenal agenesisGenetics (clinical)education.field_of_studycongenital abnormalitiesprenatal diagnosisFraser syndrome; epidemiology; prevalence; congenital abnormalities; prenatal diagnosis; induced abortionbusiness.industryObstetricsMUTATIONSInfant Newbornmedicine.diseaseBilateral Renal AgenesisEuropeEpidemiologic StudiesCRYPTOPHTHALMOSFemaleepidemiologyFraser syndromebusiness
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Epidemiology of congenital diaphragmatic hernia in Europe: a register-based study.

2015

INTRODUCTION: Published prevalence rates of congenital diaphragmatic hernia (CDH) vary. This study aims to describe the epidemiology of CDH using data from high-quality, population-based registers belonging to the European Surveillance of Congenital Anomalies (EUROCAT).METHODS: Cases of CDH delivered between 1980 and 2009 notified to 31 EUROCAT registers formed the population-based case series. Prevalence over time was estimated using multilevel Poisson regression, and heterogeneity between registers was evaluated from the random component of the intercept.RESULTS: There were 3373 CDH cases reported among 12 155 491 registered births. Of 3131 singleton cases, 353 (10.4%) were associated wit…

ANOMALIESAdultMalePediatricsmedicine.medical_specialtyAUSTRALIAAdolescentPopulationPrevalencePrenatal diagnosisGestational AgeEurope/epidemiologysymbols.namesakeYoung AdultEpidemiologyPrevalenceMedicineBirth WeightHumansMALFORMATIONSAbnormalities MultiplePoisson regressionRegistriesPRENATAL-DIAGNOSISeducationeducation.field_of_studybusiness.industryMORTALITYInfant NewbornObstetrics and GynecologyCongenital diaphragmatic herniaGestational ageGeneral MedicineDEFECTSmedicine.diseaseSurvival AnalysisCongenital anomalies ; Diaphragmal hernia ; Epidemiology ; EuropeEuropeHernias Diaphragmatic Congenital/epidemiologyRelative riskPopulation SurveillancePediatrics Perinatology and Child HealthsymbolsAbnormalities Multiple/epidemiologyFemalebusinessHernias Diaphragmatic CongenitalMaternal AgeArchives of disease in childhood. Fetal and neonatal edition
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