Epidemiology of achondroplasia: A population‐based study in Europe
2019
Coi, Alessio | Santoro, Michele | Garne, Ester | Pierini, Anna | Addor, Marie‐claude | Alessandri, Jean‐luc | Bergman, Jorieke | Bianchi, Fabrizio | Boban, Ljubica | Braz, Paula | Cavero‐carbonell, Clara | Gatt, Miriam | Haeusler, Martin | Klungsøyr, Kari | Kurinczuk, Jennifer | Lanzoni, Monica | Lelong, Nathalie | Luyt, Karen | Mokoroa, Olatz | Mullaney, Carmel | Nelen, Vera | Neville, Amanda | O'Mahony, Mary | Perthus, Isabelle | Rankin, Judith | Rissmann, Anke | Rouget, Florence | Schaub, Bruno | Tucker, David | Wellesley, Diana | Wisniewska, Katarzyna | Zymak‐zakutnia, Nataliia | Barišić, Ingeborg | Equipe 1 : EPOPé - Épidémiologie Obstétricale, Périnatale et Pédiatrique (CRESS - U1153) ; Université Paris Descartes - Paris 5 (UPD5)-Centre de Recherche Épidémiologie et Statistique Sorbonne Paris Cité (CRESS (U1153 / UMR_A_1125 / UMR_S_1153)) ; Institut National de la Recherche Agronomique (INRA)-Université Paris Diderot - Paris 7 (UPD7)-Université Paris Descartes - Paris 5 (UPD5)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de la Recherche Agronomique (INRA)-Université Paris Diderot - Paris 7 (UPD7)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM) | Centre Hospitalier Universitaire de Rennes [CHU Rennes] = Rennes University Hospital [Pontchaillou] | Institut de recherche en santé, environnement et travail (Irset) ; Université d'Angers (UA)-Université de Rennes (UR)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes (Biosit : Biologie - Santé - Innovation Technologique) | Maison de la Femme de la Mère et de l'Enfant [CHU de la Martinique] (MFME [Fort de France]) ; Centre Hospitalier Universitaire de Martinique [Fort-de-France, Martinique] (CHU de Martinique) | JRC‐EUROCAT Central Registry
International audience
Show more [+] Less [-]English. 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.
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