0000000000602786

AUTHOR

Sylvia Stoianova

showing 2 related works from this author

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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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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