0000000000283122

AUTHOR

Martin Haeusler

showing 9 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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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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Congenital anomalies associated with trisomy 18 or trisomy 13: A registry-based study in 16 european countries, 2000-2011

2015

The aim of this study was to examine the prevalence of trisomies 18 and 13 in Europe and the prevalence of associated anomalies. Twenty-five population-based registries in 16 European countries provided data from 2000-2011. Cases included live births, fetal deaths (20+ weeks' gestation), and terminations of pregnancy for fetal anomaly (TOPFAs). The prevalence of associated anomalies was reported in live births. The prevalence of trisomy 18 and trisomy 13 were 4.8 (95%CI: 4.7-5.0) and 1.9 (95%CI: 1.8-2.0) per 10,000 total births. Seventy three percent of cases with trisomy 18 or trisomy 13 resulted in a TOPFA. Amongst 468 live born babies with trisomy 18, 80% (76-83%) had a cardiac anomaly, …

GeneticsEdwards syndromePregnancyDown syndromeeducation.field_of_studymedicine.medical_specialtyPolydactylyObstetricsbusiness.industryPopulationGestational agePrenatal diagnosismedicine.diseaseGeneticsmedicineTrisomyeducationbusinessGenetics (clinical)American Journal of Medical Genetics Part A
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Estimating Global Burden of Disease due to congenital anomaly: an analysis of European data

2017

ObjectiveTo validate the estimates of Global Burden of Disease (GBD) due to congenital anomaly for Europe by comparing infant mortality data collected by EUROCAT registries with the WHO Mortality Database, and by assessing the significance of stillbirths and terminations of pregnancy for fetal anomaly (TOPFA) in the interpretation of infant mortality statistics.Design, setting and outcome measuresEUROCAT is a network of congenital anomaly registries collecting data on live births, fetal deaths from 20 weeks’ gestation and TOPFA. Data from 29 registries in 19 countries were analysed for 2005–2009, and infant mortality (deaths of live births at age <1 year) compared with the WHO Mortality …

0301 basic medicineMalePediatrics030105 genetics & heredityInfant DeathGlobal Burden of Disease0302 clinical medicineCongenital anomaly ; DALY ; Global Burden of Disease ; YLL ; mortality.PregnancyPrenatal DiagnosisYLLEpidemiologyInfant MortalityPrevalenceMedicineEPIDEMIOLOGY030212 general & internal medicineRegistries1506DOWN-SYNDROMEPOPULATIONeducation.field_of_studyDALYAnomaly (natural sciences)Pregnancy OutcomeObstetrics and GynecologyGestational ageGeneral MedicineStillbirthUPDATED SYSTEMATIC ANALYSISPREVALENCEEuropeFetal Mortality/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingFemaleOriginal ArticleCHILD-MORTALITYAdultCOUNTRIESmedicine.medical_specialtyPopulationGestational AgeCongenital Abnormalities03 medical and health sciencesSDG 3 - Good Health and Well-beingJournal ArticleHumansCongenital anomalyAbortion Induced/statistics & numerical data; Adult; Congenital Abnormalities/diagnosis; Congenital Abnormalities/epidemiology; Europe/epidemiology; Female; Fetal Death/prevention & control; Fetal Mortality; Gestational Age; Global Burden of Disease/methods; Global Burden of Disease/statistics & numerical data; Humans; Infant; Infant Death/prevention & control; Infant Mortality; Infant Newborn; Male; Pregnancy; Pregnancy Outcome/epidemiology; Prenatal Diagnosis/methods; Prenatal Diagnosis/statistics & numerical data; Prevalence; Registries/statistics & numerical data; Stillbirth/epidemiology; Congenital anomaly; DALY; Global Burden of Disease; YLL; mortalityeducationFetal DeathPregnancybusiness.industryInfant NewbornInfantAbortion InducedNATIONAL CAUSESmedicine.diseasemortalityTRENDSInfant mortalityChild mortalityYears of potential life lostPediatrics Perinatology and Child HealthbusinessPRIMARY PREVENTIONDemography
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Twenty-year trends in the prevalence of Down syndrome and other trisomies in Europe : impact of maternal age and prenatal screening

2013

This study examines trends and geographical differences in total and live birth prevalence of trisomies 21, 18 and 13 with regard to increasing maternal age and prenatal diagnosis in Europe. Twenty-one population-based EUROCAT registries covering 6.1 million births between 1990 and 2009 participated. Trisomy cases included live births, fetal deaths from 20 weeks gestational age and terminations of pregnancy for fetal anomaly. We present correction to 20 weeks gestational age (ie, correcting early terminations for the probability of fetal survival to 20 weeks) to allow for artefactual screening-related differences in total prevalence. Poisson regression was used. The proportion of births in …

TrisomyAbortionPregnancyPrenatal DiagnosisDown Syndrome/diagnosisMedicinetrisomy 18Registriestrisomy 13Genetics (clinical)Geneticseducation.field_of_studyObstetricsPregnancy OutcomeDown syndrome -- Case studiesGestational ageEuropetrisomy 21Fetal Death/epidemiologyFemaleLive birthLive BirthMaternal AgetrendsAdultmedicine.medical_specialtyDown syndromeMedical screeningPopulationPrenatal diagnosisArticlePregnancy Outcome/epidemiologyEurope/epidemiologyAge DistributionGeneticsHumanseducationFetal DeathMaternal agePregnancyChromosomes Human Pair 13business.industryAbortion Inducedmedicine.diseaseTrisomy/diagnosisLive Birth/epidemiologyprenatal screeningTrisomy -- Patients -- CareDown SyndromebusinessTrisomyChromosomes Human Pair 18Abortion Induced/statistics & numerical data
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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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