0000000000677440

AUTHOR

Judith L. S. Budd

showing 3 related works from this author

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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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
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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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