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Epidemiology of achondroplasia: a populationā€based study in Europe

2019-07-11Journal article Restricted access
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dc.contributor.authorCoi, Alessio
dc.contributor.authorSantoro, Michele
dc.contributor.authorGarne, Ester
dc.contributor.authorPierini, Anna
dc.contributor.authorAddor, Marieā€Claude
dc.contributor.authorAlessandri, Jeanā€Luc
dc.contributor.authorBergman, Jorieke E.H.
dc.contributor.authorBianchi, Fabrizio
dc.contributor.authorBoban, Ljubica
dc.contributor.authorBraz, Paula
dc.contributor.authorCaveroā€Carbonell, Clara
dc.contributor.authorGatt, Miriam
dc.contributor.authorHaeusler, Martin
dc.contributor.authorKlungsĆøyr, Kari
dc.contributor.authorKurinczuk, Jennifer J.
dc.contributor.authorLanzoni, Monica
dc.contributor.authorLelong, Nathalie
dc.contributor.authorLuyt, Karen
dc.contributor.authorMokoroa, Olatz
dc.contributor.authorMullaney, Carmel
dc.contributor.authorNelen, Vera
dc.contributor.authorNeville, Amanda J.
dc.contributor.authorO'Mahony, Mary T.
dc.contributor.authorPerthus, Isabelle
dc.contributor.authorRankin, Judith
dc.contributor.authorRissmann, Anke
dc.contributor.authorRouget, Florence
dc.contributor.authorSchaub, Bruno
dc.contributor.authorTucker, David
dc.contributor.authorWellesley, Diana
dc.contributor.authorWisniewska, Katarzyna
dc.contributor.authorZymakā€Zakutnia, Nataliia
dc.contributor.authorBariÅ”ić, Ingeborg
dc.date.accessioned2020-04-23T16:16:53Z
dc.date.available2020-04-23T16:16:53Z
dc.date.issued2019-07-11
dc.description.abstractAchondroplasia 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 >34ā€‰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.pt_PT
dc.description.sponsorshipFunding for the JRC-EUROCAT Central Registry is described in Kinsner-Ovaskainen et al. (2018). We thank Prof. Joan Morris (St. George's University of London) for her helpful suggestions.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationAm J Med Genet A. 2019 Sep;179(9):1791-1798. doi: 10.1002/ajmg.a.61289. Epub 2019 Jul 11pt_PT
dc.identifier.doi10.1002/ajmg.a.61289pt_PT
dc.identifier.issn1552-4825
dc.identifier.urihttp://hdl.handle.net/10400.18/6496
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherWileypt_PT
dc.relation.publisherversionhttps://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.a.61289pt_PT
dc.subjectEUROCATpt_PT
dc.subjectAchondroplasiapt_PT
dc.subjectEpidemiologypt_PT
dc.subjectPaternal Agept_PT
dc.subjectPrevalencept_PT
dc.subjectSkeletal Dysplasiapt_PT
dc.subjectEuropept_PT
dc.subjectRENACpt_PT
dc.subjectAnomalias CongƩnitaspt_PT
dc.subjectObservaĆ§Ć£o em SaĆŗde e VigilĆ¢nciapt_PT
dc.subjectEstados de SaĆŗde e de DoenƧa
dc.titleEpidemiology of achondroplasia: a populationā€based study in Europept_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage1798pt_PT
oaire.citation.issue9pt_PT
oaire.citation.startPage1791pt_PT
oaire.citation.titleAmerican Journal of Medical Genetics Part Apt_PT
oaire.citation.volume179pt_PT
rcaap.embargofctDe acordo com polĆ­tica editorial da revista.pt_PT
rcaap.rightsembargoedAccesspt_PT
rcaap.typearticlept_PT

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