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Epidemiology of achondroplasia: A population‐based study in Europe
Authors:Alessio Coi  Michele Santoro  Ester Garne  Anna Pierini  Marie‐Claude Addor  Jean‐Luc Alessandri  Jorieke E H Bergman  Fabrizio Bianchi  Ljubica Boban  Paula Braz  Clara Cavero‐Carbonell  Miriam Gatt  Martin Haeusler  Kari Klungsøyr  Jennifer J Kurinczuk  Monica Lanzoni  Nathalie Lelong  Karen Luyt  Olatz Mokoroa  Carmel Mullaney  Vera Nelen  Amanda J Neville  Mary T O'Mahony  Isabelle Perthus  Judith Rankin  Anke Rissmann  Florence Rouget  Bruno Schaub  David Tucker  Diana Wellesley  Katarzyna Wisniewska  Nataliia Zymak‐Zakutnia  Ingeborg Bari?i?
Institution:1.
Abstract:Achondroplasia is a rare genetic disorder resulting in short‐limb skeletal dysplasia. We present the largest European population‐based epidemiological study to date using data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network. All cases of achondroplasia notified to 28 EUROCAT registries (1991–2015) were included in the study. Prevalence, birth outcomes, prenatal diagnosis, associated anomalies, and the impact of paternal and maternal age on de novo achondroplasia were presented. The study population consisted of 434 achondroplasia cases with a prevalence of 3.72 per 100,000 births (95%CIs: 3.14–4.39). There were 350 live births, 82 terminations of pregnancy after prenatal diagnosis, and two fetal deaths. The prenatal detection rate was significantly higher in recent years (71% in 2011–2015 vs. 36% in 1991–1995). Major associated congenital anomalies were present in 10% of cases. About 20% of cases were familial. After adjusting for maternal age, fathers >34 years had a significantly higher risk of having infants with de novo achondroplasia than younger fathers. Prevalence was stable over time, but regional differences were observed. All pregnancy outcomes were included in the prevalence estimate with 80.6% being live born. The study confirmed the increased risk for older fathers of having infants with de novo achondroplasia.
Keywords:achondroplasia  epidemiology  EUROCAT  paternal age  prevalence  skeletal dysplasia
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