0000000000352099

AUTHOR

Catherine Rounding

showing 8 related works from this author

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
researchProduct

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
researchProduct

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
researchProduct

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
researchProduct

Major Congenital Anomalies in Babies Born With Down Syndrome

2014

Previous studies have shown that over 40% of babies with Down syndrome have a major cardiac anomaly and are more likely to have other major congenital anomalies. Since 2000, many countries in Europe have introduced national antenatal screening programs for Down syndrome. This study aimed to determine if the introduction of these screening programs and the subsequent termination of prenatally detected pregnancies were associated with any decline in the prevalence of additional anomalies in babies born with Down syndrome. The study sample consisted of 7,044 live births and fetal deaths with Down syndrome registered in 28 European population-based congenital anomaly registries covering seven m…

Heart Defects CongenitalMalemedicine.medical_specialtyDown syndromeSEX-DIFFERENCESEUROPEIMPACTDown syndromePrenatal diagnosisCardiac anomaliesPrenatal diagnosisHEART-DEFECTSDISEASECongenital AbnormalitiesSERUMSex FactorsAntenatal screeningGeneticsmedicineScreening programsHumansCARDIAC ANOMALYMALFORMATIONSRegistriesGenetics (clinical)prenatal diagnosisObstetricsbusiness.industrycardiac anomaliesInfant NewbornAbortion InducedEuropean populationmedicine.diseaseDown syndrome; cardiac anomalies; prenatal diagnosis3. Good healthPREVALENCELogistic ModelsFETAL NUCHAL TRANSLUCENCYFemalePopulation screeningbusinessPopulation-Based RegistryAmerican Journal of Medical Genetics. Part B: Neuropsychiatric Genetics
researchProduct

The Association of H1N1 Pandemic Influenza with Congenital Anomaly Prevalence in Europe

2015

BACKGROUND: In the context of the European Surveillance of Congenital Anomalies (EUROCAT) surveillance response to the 2009 influenza pandemic, we sought to establish whether there was a detectable increase of congenital anomaly prevalence among pregnancies exposed to influenza seasons in general, and whether any increase was greater during the 2009 pandemic than during other seasons.METHODS: We performed an ecologic time series analysis based on 26,967 pregnancies with nonchromosomal congenital anomaly conceived from January 2007 to March 2011, reported by 15 EUROCAT registries. Analysis was performed for EUROCAT-defined anomaly subgroups, divided by whether there was a prior hypothesis of…

Heart Septal Defects VentricularPediatricsmedicine.medical_specialtyEpidemiologyEPIDEMICSPrevalenceCRITICAL PERIODSContext (language use)DiseaseILLNESSmedicine.disease_causeTricuspid AtresiaDISEASECongenital AbnormalitiesInfluenza A Virus H1N1 SubtypePregnancyCystic Adenomatoid Malformation of Lung CongenitalInfluenza HumanPandemicPrevalenceInfluenza A virusHumansMedicineNeural Tube DefectsRegistriesPregnancy Complications InfectiousPandemicsTetralogy of FallotRISKPregnancyOUTCOMESbusiness.industryABNORMALITIESInfant NewbornPOLICIESmedicine.diseaseEuropeVaccinationTetralogy of FallotVACCINATIONFemaleTricuspid Valve StenosisbusinessPREGNANT-WOMENEpidemiology
researchProduct

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
researchProduct

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
researchProduct