Twenty-year trends in the prevalence of Down syndrome and other trisomies in Europe: impact of maternal age and prenatal screening

Hdl Handle:
http://hdl.handle.net/10147/323426
Title:
Twenty-year trends in the prevalence of Down syndrome and other trisomies in Europe: impact of maternal age and prenatal screening
Authors:
Loane, Maria; Morris, Joan K; Addor, Marie-Claude; Arriola, Larraitz; Budd, Judith; Doray, Berenice; Garne, Ester; Gatt, Miriam; Haeusler, Martin; Khoshnood, Babak; Klungsøyr Melve, Kari; Latos-Bielenska, Anna; McDonnell, Bob; Mullaney, Carmel; O'Mahony, Mary; Queißer-Wahrendorf, Annette; Rankin, Judith; Rissmann, Anke; Rounding, Catherine; Salvador, Joaquin; Tucker, David; Wellesley, Diana; Yevtushok, Lyubov; Dolk, Helen
Citation:
Loane M et al. Twenty-year trends in the prevalence of Down syndrome and other trisomies in Europe: impact of maternal age and prenatal screening. Eur J Hum Gen 2012, 21 (1):27
Journal:
European Journal of Human Genetics
Issue Date:
18-Jul-2014
URI:
http://hdl.handle.net/10147/323426
DOI:
10.1038/ejhg.2012.94
Additional Links:
http://www.nature.com/doifinder/10.1038/ejhg.2012.94; http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3522199/
Item Type:
Article
Language:
en
Description:
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 the population to mothers aged 35+ years in the participating registries increased from 13% in 1990 to 19% in 2009. Total prevalence per 10000 births was 22.0 (95% CI 21.7–22.4) for trisomy 21, 5.0 (95% CI 4.8–5.1) for trisomy 18 and 2.0 (95% CI 1.9–2.2) for trisomy 13; live birth prevalence was 11.2 (95% CI 10.9–11.5) for trisomy 21, 1.04 (95% CI 0.96–1.12) for trisomy 18 and 0.48 (95% CI 0.43–0.54) for trisomy 13. There was an increase in total and total corrected prevalence of all three trisomies over time, mainly explained by increasing maternal age. Live birth prevalence remained stable over time. For trisomy 21, there was a three-fold variation in live birth prevalence between countries. The rise in maternal age has led to an increase in the number of trisomy-affected pregnancies in Europe. Live birth prevalence has remained stable overall. Differences in prenatal screening and termination between countries lead to wide variation in live birth prevalence.
Keywords:
trisomy 21, trisomy 18, trisomy 13, trends, maternal age, prenatal screening
Local subject classification:
DOWNS SYNDROME; GENETICS
ISSN:
1018-4813; 1476-5438

Full metadata record

DC FieldValue Language
dc.contributor.authorLoane, Mariaen_GB
dc.contributor.authorMorris, Joan Ken_GB
dc.contributor.authorAddor, Marie-Claudeen_GB
dc.contributor.authorArriola, Larraitzen_GB
dc.contributor.authorBudd, Judithen_GB
dc.contributor.authorDoray, Bereniceen_GB
dc.contributor.authorGarne, Esteren_GB
dc.contributor.authorGatt, Miriamen_GB
dc.contributor.authorHaeusler, Martinen_GB
dc.contributor.authorKhoshnood, Babaken_GB
dc.contributor.authorKlungsøyr Melve, Karien_GB
dc.contributor.authorLatos-Bielenska, Annaen_GB
dc.contributor.authorMcDonnell, Boben_GB
dc.contributor.authorMullaney, Carmelen_GB
dc.contributor.authorO'Mahony, Maryen_GB
dc.contributor.authorQueißer-Wahrendorf, Annetteen_GB
dc.contributor.authorRankin, Judithen_GB
dc.contributor.authorRissmann, Ankeen_GB
dc.contributor.authorRounding, Catherineen_GB
dc.contributor.authorSalvador, Joaquinen_GB
dc.contributor.authorTucker, Daviden_GB
dc.contributor.authorWellesley, Dianaen_GB
dc.contributor.authorYevtushok, Lyuboven_GB
dc.contributor.authorDolk, Helenen_GB
dc.date.accessioned2014-07-18T11:25:54Z-
dc.date.available2014-07-18T11:25:54Z-
dc.date.issued2014-07-18-
dc.identifier.citationLoane M et al. Twenty-year trends in the prevalence of Down syndrome and other trisomies in Europe: impact of maternal age and prenatal screening. Eur J Hum Gen 2012, 21 (1):27en_GB
dc.identifier.issn1018-4813-
dc.identifier.issn1476-5438-
dc.identifier.doi10.1038/ejhg.2012.94-
dc.identifier.urihttp://hdl.handle.net/10147/323426-
dc.descriptionThis 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 the population to mothers aged 35+ years in the participating registries increased from 13% in 1990 to 19% in 2009. Total prevalence per 10000 births was 22.0 (95% CI 21.7–22.4) for trisomy 21, 5.0 (95% CI 4.8–5.1) for trisomy 18 and 2.0 (95% CI 1.9–2.2) for trisomy 13; live birth prevalence was 11.2 (95% CI 10.9–11.5) for trisomy 21, 1.04 (95% CI 0.96–1.12) for trisomy 18 and 0.48 (95% CI 0.43–0.54) for trisomy 13. There was an increase in total and total corrected prevalence of all three trisomies over time, mainly explained by increasing maternal age. Live birth prevalence remained stable over time. For trisomy 21, there was a three-fold variation in live birth prevalence between countries. The rise in maternal age has led to an increase in the number of trisomy-affected pregnancies in Europe. Live birth prevalence has remained stable overall. Differences in prenatal screening and termination between countries lead to wide variation in live birth prevalence.en_GB
dc.language.isoenen
dc.relation.urlhttp://www.nature.com/doifinder/10.1038/ejhg.2012.94en_GB
dc.relation.urlhttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC3522199/en_GB
dc.rightsArchived with thanks to European Journal of Human Geneticsen_GB
dc.subjecttrisomy 21, trisomy 18, trisomy 13, trends, maternal age, prenatal screeningen_GB
dc.subject.otherDOWNS SYNDROMEen_GB
dc.subject.otherGENETICSen_GB
dc.titleTwenty-year trends in the prevalence of Down syndrome and other trisomies in Europe: impact of maternal age and prenatal screeningen_GB
dc.typeArticleen
dc.identifier.journalEuropean Journal of Human Geneticsen_GB
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