Sex chromosome trisomies in Europe: prevalence, prenatal detection and outcome of pregnancy.

Details

Serval ID
serval:BIB_39B7212CF37A
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Sex chromosome trisomies in Europe: prevalence, prenatal detection and outcome of pregnancy.
Journal
European Journal of Human Genetics
Author(s)
Boyd P.A., Loane M., Garne E., Khoshnood B., Dolk H.
Working group(s)
EUROCAT Working Group
ISSN
1476-5438 (Electronic)
ISSN-L
1018-4813
Publication state
Published
Issued date
2011
Volume
19
Number
2
Pages
231-234
Language
english
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't
Publication Status: ppublish
Investigators List: Häusler (Martin) M ; Verellen-Dumoulin (Christine) C ; Nelen (Vera) V ; Garne (Ester) E ; Khoshnood (Babak) B ; Doray (Berenice) B ; Poetzsch (Simone) S ; Pierini (Anna) A ; Calzolari (Elisa) E ; Latos-Bielenska (Anna) A ; Dias (Carlos) C ; Salvador (Joaquin) J ; Portillo (Isabel) I ; Addor (Marie-Claude) MC ; Draper (Elizabeth) E ; Rankin (Judith) J ; Rounding (Catherine) C ; Valley (Thames) T ; Tucker (David) D ; Wellesley (Diana) D ;
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.
Pubmed
Web of science
Open Access
Yes
Create date
21/03/2011 11:44
Last modification date
20/08/2019 13:29
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