0000000000283127

AUTHOR

Anna Pierini

0000-0003-3321-9343

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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Prevalence of microcephaly in Europe: population based study.

2016

Objectives: Microcephaly is a congenital anomaly where the baby’s head is smaller than expected when compared with babies of the same sex, age and ethnicity. Many of these babies will have underdeveloped brains. This study aimed to provide contemporary estimates of the prevalence of microcephaly in Europe, determine if the diagnosis of microcephaly is consistent across Europe and to evaluate whether changes in prevalence would be detected using the current European surveillance performed by EUROCAT (the European Surveillance of Congenital Anomalies). Design: A questionnaire and a population-based, observational study Setting: 24 EUROCAT registries covering 570,000 births annually in 15 coun…

MalePediatricsmedicine.medical_specialtyMicrocephalyPrenatal diagnosisEthnic originmicrocephaly ; prevalence surveillance03 medical and health sciencessymbols.namesakeEuropean Surveillance of Congenital Anomalies0302 clinical medicineMicrocefaliaEuropean SurveillancePregnancyEUROCAT030225 pediatricsStatistical significancePrenatal DiagnosisSurveys and QuestionnairesmedicinePrevalenceJournal ArticleHumans030212 general & internal medicinePoisson regressionRegistriesEurope/epidemiology; Female; Fetal Death; Humans; Male; Microcephaly/diagnosis; Microcephaly/epidemiology; Population Surveillance; Pregnancy; Prenatal Diagnosis; Prevalence; Registries; Retrospective Studies; Surveys and QuestionnairesFetal DeathRetrospective StudiesPregnancyZIKA VIRUS-INFECTIONbusiness.industryResearchRENACRetrospective cohort studyGeneral Medicinemedicine.diseaseEstados de Saúde e de DoençaObservação em Saúde e VigilânciaCongenital AnomaliesConfidence intervalEuropeCONGENITAL-ANOMALIESPopulation SurveillancesymbolsMicrocephalyFemalebusiness
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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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Trends in congenital anomalies in Europe from 1980 to 2012

2018

Background Surveillance of congenital anomalies is important to identify potential teratogens. Methods This study analysed the prevalence of 61 congenital anomaly subgroups (excluding chromosomal) in 25 population-based EUROCAT registries (1980–2012). Live births, fetal deaths and terminations of pregnancy for fetal anomaly were analysed with multilevel random-effects Poisson regression models. Results Seventeen anomaly subgroups had statistically significant trends from 2003±2012; 12 increasing and 5 decreasing. Conclusions The annual increasing prevalence of severe congenital heart defects, single ventricle, atrioventricular septal defects and tetralogy of Fallot of 1.4% (95% CI: 0.7% to …

MaleMaternal HealthLimb Reduction Defectslcsh:MedicineHEART-DEFECTS030204 cardiovascular system & hematologyFOLIC-ACID FORTIFICATIONPathology and Laboratory MedicineGeographical Locations0302 clinical medicineEUROCATPregnancyDuctus arteriosusPrevalenceMedicine and Health SciencesMorphogenesis030212 general & internal medicineRegistrieslcsh:ScienceTetralogy of FallotRISKStenosiseducation.field_of_studyMultidisciplinaryObstetricsIncidence (epidemiology)Obstetrics and GynecologyHeartASSOCIATIONCongenital Heart DefectsCongenital AnomaliesEuropePOPULATION-BASED EVALUATIONmedicine.anatomical_structurecongenital anomalies ; surveillance epidemiologyPopulation SurveillanceMicrocephalyNEURAL-TUBE DEFECTSFemaleAnatomyResearch Articlemedicine.medical_specialtyCardiac VentriclesPopulationCardiologyHistory 21st CenturyDuodenal atresiaEurope/epidemiologyCongenital Abnormalities03 medical and health sciencesSigns and SymptomsDiagnostic MedicinemedicineCongenital DisordersHumansBirth DefectseducationPregnancyZIKA VIRUS-INFECTIONbusiness.industrylcsh:RBiology and Life SciencesHistory 20th Centurymedicine.diseaseCongenital Abnormalities/diagnosisCongenital Abnormalities/diagnosis; Congenital Abnormalities/epidemiology; Congenital Abnormalities/etiology; Congenital Abnormalities/history; Europe/epidemiology; Female; History 20th Century; History 21st Century; Humans; Male; Population Surveillance; Pregnancy; Prevalence; RegistriesTeratologyREDUCTIONAtresiaPeople and PlacesBirthCardiovascular AnatomyVentricular Septal DefectsWomen's Healthlcsh:QbusinessDevelopmental BiologyPLoS One
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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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Lamotrigine use in pregnancy and risk of orofacial cleft and other congenital anomalies

2016

Objective: To test previous signals of a risk of orofacial cleft (OC) and clubfoot with exposure to the antiepileptic lamotrigine, and to investigate risk of other congenital anomalies (CA).Methods: This was a population-based case–malformed control study based on 21 EUROCAT CA registries covering 10.1 million births (1995–2011), including births to 2005 in which the clubfoot signal was generated and a subsequent independent study population of 6.3 million births. A total of 226,806 babies with CA included livebirths, stillbirths, and terminations of pregnancy following prenatal diagnosis. First-trimester lamotrigine monotherapy exposure in OC cases and clubfoot cases was compared to other …

115congenital anomalies ; orofacial clefts ; lamotrigine ; pregnancy0302 clinical medicinePregnancyOdds RatioRegistries030212 general & internal medicineEPILEPSYeducation.field_of_studyTriazinesObstetricsAbsolute risk reductionANTIEPILEPTIC DRUGSAbnormalities Drug-InducedCleft PalateEuropeAnesthesiaINCREASED FREQUENCYAnticonvulsantsFemalemedicine.drugAdultRisk61medicine.medical_specialtyCleft LipPopulationPrenatal diagnosisLamotrigineLamotrigineSensitivity and SpecificityArticle03 medical and health sciencesJournal ArticlemedicineHumansAbnormalities Drug-Induced/epidemiology; Adult; Anticonvulsants/adverse effects; Anticonvulsants/therapeutic use; Case-Control Studies; Cleft Lip/chemically induced; Cleft Lip/epidemiology; Cleft Palate/chemically induced; Cleft Palate/epidemiology; Epilepsy/drug therapy; Epilepsy/epidemiology; Europe/epidemiology; Female; Humans; Odds Ratio; Pregnancy; Pregnancy Complications/drug therapy; Pregnancy Complications/epidemiology; Pregnancy Trimester First; Registries; Risk; Sensitivity and Specificity; Triazines/adverse effects; Triazines/therapeutic useMALFORMATIONSeducationPregnancy53business.industryCLUBFOOTCase-control studyOdds ratio228medicine.diseaseConfidence intervalPregnancy ComplicationsPregnancy Trimester FirstPALATECase-Control StudiesREGISTRYNeurology (clinical)business030217 neurology & neurosurgeryNeurology
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Use of asthma medication during pregnancy and risk of specific congenital anomalies: A European case-malformed control study.

2015

Background: Pregnant women with asthma need to take medication during pregnancy.Objective: We sought to identify whether there is an increased risk of specific congenital anomalies after exposure to antiasthma medication in the first trimester of pregnancy.Methods: We performed a population-based case-malformed control study testing signals identified in a literature review. Odds ratios (ORs) of exposure to the main groups of asthma medication were calculated for each of the 10 signal anomalies compared with registrations with nonchromosomal, nonsignal anomalies as control registrations. In addition, exploratory analyses were done for each nonsignal anomaly. The data set included 76,249 reg…

PediatricsINFANTSAdrenal Cortex HormonesPregnancyOdds RatioImmunology and AllergyAnti-Asthmatic AgentsPOPULATIONAsthma medicationTetralogy of FallotMATERNAL ASTHMAeducation.field_of_studyOUTCOMESWOMEN3. Good healthPREVALENCEEuropeAnesthesiaPrenatal Exposure Delayed Effectsinhaled β2-agonistsFemalemedicine.drugRiskmedicine.medical_specialty1ST TRIMESTERfirst trimester exposurePopulationImmunologyUNITED-STATESCongenital AbnormalitiesAsthma medication ; congenital anomalies ; first trimester exposure ; inhaled corticosteroids ; inhaled β(2)-agonists ; pregnancy.:Medisinske Fag: 700 [VDP]medicineHumansMALFORMATIONSeducationAdrenergic beta-2 Receptor AgonistsMETAANALYSISAsthmaPregnancySpina bifidaGastroschisisbusiness.industrycongenital anomaliesOdds ratiomedicine.diseaseAsthmainhaled beta(2)-agonistsPregnancy Trimester FirstCase-Control StudiesSalbutamolinhaled corticosteroidsbusinessThe Journal of allergy and clinical immunology
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