Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.18/3736
Título: Meckel–Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe
Autor: Barisc, Ingeborg
Boban, Ljubica
Loane, Maria
Garne, Ester
Wellesley, Diana
Calzolari, Elisa
Dolk, Helen
Addor, Marie-Claude
Bergman, Jorieke E.H.
Braz, Paula
Draper, Elizabeth S.
Haeusler, Martin
Khoshnood, Babak
Klungsoyr, Kari
Pierini, Anna
Queisser-Luft, Annette
Rankin, Judith
Rissmann, Anke
Verellen-Dumoulin, Christine
Palavras-chave: Meckel–Gruber
Prenatal Diagnosis
European Surveillance of Congenital Anomalies
Estados de Saúde e de Doença
Data: Jun-2015
Editora: Nature Publishing Group/European Society of Human Genetics
Citação: Eur J Hum Genet. 2015 Jun;23(6):746-52. doi: 10.1038/ejhg.2014.174. Epub 2014 Sep 3.
Resumo: Meckel–Gruber Syndrome is a rare autosomal recessive lethal ciliopathy characterized by the triad of cystic renal dysplasia,occipital encephalocele and postaxial polydactyly. We present the largest population-based epidemiological study to date using data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network. The study population consisted of 191 cases of MKS identified between January 1990 and December 2011 in 34 European registries. The mean prevalence was 2.6 per 100 000 births in a subset of registries with good ascertainment. The prevalence was stable over time, but regional differences were observed. There were 145 (75.9%) terminations of pregnancy after prenatal diagnosis, 13 (6.8%) fetal deaths, 33 (17.3%) live births. In addition to cystic kidneys (97.7%), encephalocele (83.8%) and polydactyly(87.3%), frequent features include other central nervous system anomalies (51.4%), fibrotic/cystic changes of the liver (65.5%) of cases with post mortem examination) and orofacial clefts (31.8%). Various other anomalies were present in 64 (37%) patients. As nowadays most patients are detected very early in pregnancy when liver or kidney changes may not yet be developed or may be difficult to assess, none of the anomalies should be considered obligatory for the diagnosis. Most cases (90.2%) are diagnosed prenatally at 14.3±2.6 (range 11–36) gestational weeks and pregnancies are mainly terminated, reducing the number of LB to one-fifth of the total prevalence rate. Early diagnosis is important for timely counseling of affected couples regarding the option of pregnancy termination and prenatal genetic testing in future pregnancies.
Peer review: yes
URI: http://hdl.handle.net/10400.18/3736
DOI: 10.1038/ejhg.2014.174
ISSN: 1018-4813
Versão do Editor: http://www.nature.com/ejhg/journal/vaop/ncurrent/full/ejhg2014174a.html
Aparece nas colecções:DEP - Artigos em revistas internacionais

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