Repository logo
 
Publication

Meckel–Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe

2015-06Journal article Restricted access
Simple item page
dc.contributor.authorBarisc, Ingeborg
dc.contributor.authorBoban, Ljubica
dc.contributor.authorLoane, Maria
dc.contributor.authorGarne, Ester
dc.contributor.authorWellesley, Diana
dc.contributor.authorCalzolari, Elisa
dc.contributor.authorDolk, Helen
dc.contributor.authorAddor, Marie-Claude
dc.contributor.authorBergman, Jorieke E.H.
dc.contributor.authorBraz, Paula
dc.contributor.authorDraper, Elizabeth S.
dc.contributor.authorHaeusler, Martin
dc.contributor.authorKhoshnood, Babak
dc.contributor.authorKlungsoyr, Kari
dc.contributor.authorPierini, Anna
dc.contributor.authorQueisser-Luft, Annette
dc.contributor.authorRankin, Judith
dc.contributor.authorRissmann, Anke
dc.contributor.authorVerellen-Dumoulin, Christine
dc.date.accessioned2016-03-24T15:03:39Z
dc.date.available2019-01-01T01:30:10Z
dc.date.issued2015-06
dc.description.abstractMeckel–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.pt_PT
dc.description.sponsorshipEUROCATpt_PT
dc.identifier.citationEur J Hum Genet. 2015 Jun;23(6):746-52. doi: 10.1038/ejhg.2014.174. Epub 2014 Sep 3.pt_PT
dc.identifier.doi10.1038/ejhg.2014.174pt_PT
dc.identifier.issn1018-4813
dc.identifier.urihttp://hdl.handle.net/10400.18/3736
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherNature Publishing Group/European Society of Human Geneticspt_PT
dc.relation.publisherversionhttp://www.nature.com/ejhg/journal/vaop/ncurrent/full/ejhg2014174a.htmlpt_PT
dc.subjectMeckel–Gruberpt_PT
dc.subjectSyndromept_PT
dc.subjectPrenatal Diagnosispt_PT
dc.subjectEpidemiologypt_PT
dc.subjectEuropept_PT
dc.subjectEuropean Surveillance of Congenital Anomaliespt_PT
dc.subjectEUROCATpt_PT
dc.subjectEstados de Saúde e de Doençapt_PT
dc.titleMeckel–Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europept_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.conferencePlaceLeiden, Holandapt_PT
oaire.citation.endPage752pt_PT
oaire.citation.startPage746pt_PT
oaire.citation.titleEuropean Journal of Human Geneticspt_PT
oaire.citation.volume23(6)pt_PT
rcaap.rightsembargoedAccesspt_PT
rcaap.typearticlept_PT

Files

Original bundle
Now showing 1 - 1 of 1
No Thumbnail Available
Name:
Meckel Gruber syndrome_ a population based study in Europe.pdf
Size:
1.64 MB
Format:
Adobe Portable Document Format
Download
License bundle
Now showing 1 - 1 of 1
No Thumbnail Available
Name:
license.txt
Size:
1.71 KB
Format:
Item-specific license agreed upon to submission
Description:
Download

Collections

DEP - Artigos em revistas internacionais