Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.18/567
Título: Sex chromosome trisomies in Europe: prevalence, prenatal detection and outcome of pregnancy
Autor: Boyd, Patricia Anne
Loane, Maria
Garne, Ester
Khoshnood, Babak
Dolk, Helen
EUROCAT working group
Palavras-chave: Sex Chromosome Trisomies
Prenatal Diagnosis
Termination of Pregnancy
Estados de Saúde e de Doença
RENAC
Data: 25-Ago-2011
Editora: Nature Publishing Group
Citação: Eur J Hum Genet. 2011 Feb;19(2):231-4. Epub 2010 Aug 25
Resumo: 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.
Descrição: EUROCAT Working group collaborator: Carlos Dias
Peer review: yes
URI: http://hdl.handle.net/10400.18/567
ISSN: 1018-4813
Versão do Editor: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3025783/?tool=pubmed
Aparece nas colecções:DEP - Artigos em revistas internacionais

Ficheiros deste registo:
Ficheiro Descrição TamanhoFormato 
Sex Chromosome Trisomies in Europe - Prevalence, Prenatal Detection and outcome of Pregnancy.pdf302,42 kBAdobe PDFVer/Abrir


FacebookTwitterDeliciousLinkedInDiggGoogle BookmarksMySpace
Formato BibTex MendeleyEndnote Degois 

Todos os registos no repositório estão protegidos por leis de copyright, com todos os direitos reservados.