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Please use this identifier to cite or link to this item: http://hdl.handle.net/10400.18/567

Title: Sex chromosome trisomies in Europe: prevalence, prenatal detection and outcome of pregnancy
Authors: Boyd, Patricia Anne
Loane, Maria
Garne, Ester
Khoshnood, Babak
Dolk, Helen
EUROCAT working group
Keywords: Sex Chromosome Trisomies
Prenatal Diagnosis
Termination of Pregnancy
Estados de Saúde e de Doença
RENAC
Issue Date: 25-Aug-2011
Publisher: Nature Publishing Group
Citation: Eur J Hum Genet. 2011 Feb;19(2):231-4. Epub 2010 Aug 25
Abstract: This study aims to assess prevalence and pregnancy outcome for sex chromosome trisomies (SCTs) diagnosed prenatally or in the first year of life. Data held by the European Surveillance of Congenital Anomalies (EUROCAT) database on SCT cases delivered 2000–2005 from 19 population-based registries in 11 European countries covering 2.5 million births were analysed. Cases included were livebirths diagnosed to 1 year of age, fetal deaths from 20 weeks gestation and terminations of pregnancy for fetal anomaly (TOPFA). In all, 465 cases of SCT were diagnosed between 2000 and 2005, a prevalence of 1.88 per 10,000 births (95% CI 1.71–2.06). Prevalence of XXX, XXY and XYY were 0.54 (95% CI 0.46–0.64), 1.04 (95% CI 0.92–1.17) and 0.30 (95% CI 0.24–0.38), respectively. In all, 415 (89%) were prenatally diagnosed and 151 (36%) of these resulted in TOPFA. There was wide country variation in prevalence (0.19–5.36 per 1000), proportion prenatally diagnosed (50–100%) and proportion of prenatally diagnosed resulting in TOPFA (13–67%). Prevalence of prenatally diagnosed cases was higher in countries with high prenatal detection rates of Down syndrome. The EUROCAT prevalence rate for SCTs diagnosed prenatally or up to 1 year of age represents 12% of the prevalence expected from cytogenetic studies of newborn babies, as the majority of cases are never diagnosed or are diagnosed later in life. There is a wide variation between European countries in prevalence, prenatal detection and TOPFA proportions, related to differences in screening policies as well as organizational and cultural factors.
Description: EUROCAT Working group collaborator: Carlos Dias
Peer Reviewed: yes
URI: http://hdl.handle.net/10400.18/567
ISSN: 1018-4813
Publisher version: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3025783/?tool=pubmed
Appears in Collections:DEP - Artigos em revistas internacionais

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