Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe.

Details

Serval ID
serval:BIB_079DC291A483
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe.
Journal
European Journal of Human Genetics : Ejhg
Author(s)
Wellesley D., Dolk H., Boyd P.A., Greenlees R., Haeusler M., Nelen V., Garne E., Khoshnood B., Doray B., Rissmann A., Mullaney C., Calzolari E., Bakker M., Salvador J., Addor M.C., Draper E., Rankin J., Tucker D.
ISSN
1476-5438 (Electronic)
ISSN-L
1018-4813
Publication state
Published
Issued date
2012
Volume
20
Number
5
Pages
521-526
Language
english
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't
Abstract
The aim of this study is to quantify the prevalence and types of rare chromosome abnormalities (RCAs) in Europe for 2000-2006 inclusive, and to describe prenatal diagnosis rates and pregnancy outcome. Data held by the European Surveillance of Congenital Anomalies database were analysed on all the cases from 16 population-based registries in 11 European countries diagnosed prenatally or before 1 year of age, and delivered between 2000 and 2006. Cases were all unbalanced chromosome abnormalities and included live births, fetal deaths from 20 weeks gestation and terminations of pregnancy for fetal anomaly. There were 10,323 cases with a chromosome abnormality, giving a total birth prevalence rate of 43.8/10,000 births. Of these, 7335 cases had trisomy 21,18 or 13, giving individual prevalence rates of 23.0, 5.9 and 2.3/10,000 births, respectively (53, 13 and 5% of all reported chromosome errors, respectively). In all, 473 cases (5%) had a sex chromosome trisomy, and 778 (8%) had 45,X, giving prevalence rates of 2.0 and 3.3/10,000 births, respectively. There were 1,737 RCA cases (17%), giving a prevalence of 7.4/10,000 births. These included triploidy, other trisomies, marker chromosomes, unbalanced translocations, deletions and duplications. There was a wide variation between the registers in both the overall prenatal diagnosis rate of RCA, an average of 65% (range 5-92%) and the prevalence of RCA (range 2.4-12.9/10,000 births). In all, 49% were liveborn. The data provide the prevalence of families currently requiring specialised genetic counselling services in the perinatal period for these conditions and, for some, long-term care.
Keywords
Abnormalities, Multiple/epidemiology, Abnormalities, Multiple/genetics, Chromosome Aberrations, Chromosome Disorders/epidemiology, Chromosome Disorders/genetics, Chromosomes, Human, Pair 13/genetics, Chromosomes, Human, Pair 18/genetics, Down Syndrome/epidemiology, Down Syndrome/genetics, Europe/epidemiology, Humans, Prenatal Diagnosis/methods, Prevalence, Registries, Trisomy/genetics
Pubmed
Web of science
Open Access
Yes
Create date
16/02/2012 11:54
Last modification date
20/08/2019 12:30
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