Title: Epidemiology of achondroplasia: a population-based study in Europe
Authors: COI ALESSIOSANTORO MICHELEGARNE ESTERPIERINI ANNAADDOR MARIE-CLAUDEALESSANDRI JEAN-LUCBERGMAN JORIEKE E.H.BIANCHI FABRIZIOBOBAN LJUBICABRAZ PAULACAVERO-CARBONELL CLARAGATT MIRIAMHAEUSLER MARTINKLUNGSOYR KARIKURINCZUK JENNIFERLANZONI MONICALELONG NATALIELUYT KARENMOKOROA CAROLLO OLATZMULLANEY CARMELNELEN VERANEVILLE AMANDAO’MAHONY MARYPERTHUS ISABELLERANKIN JUDITHRISSMANN ANKEROUGET FLORENCESCHAUB BRUNOTUCKER DAVIDWELLESLEY DIANAWISNIEWSKA KATARZYNAZYMAK-ZAKUTNIA NATALIABARISIC INGEBORG
Citation: AMERICAN JOURNAL OF MEDICAL GENETICS PART A vol. 179A no. 9 p. 1791-1798
Publisher: WILEY
Publication Year: 2019
JRC N°: JRC115917
ISSN: 1552-4825 (online)
URI: http://publications.jrc.ec.europa.eu/repository/handle/JRC115917
DOI: 10.1002/ajmg.a.61289
Type: Articles in periodicals and books
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.
JRC Directorate:Health, Consumers and Reference Materials

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