Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe
Por:
Wellesley, D, Dolk, H, Boyd, PA, Greenlees, R, Haeusler, M, Nelen, V, Garne, E, Khoshnood, B, Doray, B, Rissmann, A, Mullaney, C, Calzolari, E, Bakker, M, Salvador, J, Addor, MC, Draper, E, Rankin, J, Tucker, D
Publicada:
1 may 2012
Resumen:
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. European Journal of Human Genetics (2012) 20, 521-526; doi:10.1038/ejhg.2011.246; published online 11 January 2012
Filiaciones:
Wellesley, D:
Univ Southampton, Fac Med, Southampton SO16 5YA, Hants, England
Princess Anne Hosp, Wessex Clin Genet Serv, Southampton SO16 5YA, Hants, England
Dolk, H:
Univ Ulster, Fac Life & Hlth Sci, Ulster, North Ireland
Boyd, PA:
Univ Oxford, Natl Perinatal Epidemiol Unit, Oxford, England
Greenlees, R:
Univ Ulster, Fac Life & Hlth Sci, Ulster, North Ireland
Haeusler, M:
Med Univ Graz, Dept Obstet, Graz, Austria
Nelen, V:
Dept Environm, Antwerp, Province Of Ant, Belgium
Garne, E:
Hosp Lillebaelt, Dept Paediat, Kolding, Denmark
Khoshnood, B:
Hop St Vincent de Paul, INSERM, Epidemiol Res Unit Perinatal Hlth & Womens & Chil, UMR S953, F-75674 Paris, France
Doray, B:
Fac Med Strasbourg, Registre Malformat Congenitales Alsace, Strasbourg, France
Rissmann, A:
Univ Magdeburg, Fac Med, Malformat Monitoring Ctr Saxony Anhalt, D-39106 Magdeburg, Germany
Mullaney, C:
Dept Publ Hlth, Kilkenny, South East Irel, Ireland
Calzolari, E:
IMER Registry, Emilia Romagna, Italy
Bakker, M:
Univ Groningen, Univ Med Ctr Groningen, EUROCAT No Netherlands, Dept Genet, NL-9713 AV Groningen, Netherlands
Salvador, J:
Serv Sistemes Informacio Sanitaria, Barcelona, Spain
Addor, MC:
CHUV Lausanne, Serv Genet Med, Lausanne, Switzerland
Draper, E:
Univ Leicester, Leicester, Leics, England
Rankin, J:
Newcastle Univ, Inst Hlth & Soc, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England
Green Published, Bronze
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