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Region Hovedstaden - en del af Københavns Universitetshospital
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Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

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  • Thomas Eggermann
  • Frédéric Brioude
  • Silvia Russo
  • Maria P Lombardi
  • Jet Bliek
  • Eamonn R Maher
  • Lidia Larizza
  • Dirk Prawitt
  • Irène Netchine
  • Marie Gonzales
  • Karen Grønskov
  • Zeynep Tümer
  • David Monk
  • Marcel Mannens
  • Krystyna Chrzanowska
  • Malgorzata K Walasek
  • Matthias Begemann
  • Lukas Soellner
  • Katja Eggermann
  • Jair Tenorio
  • Julián Nevado
  • Gudrun E Moore
  • Deborah Jg Mackay
  • Karen Temple
  • Gabriele Gillessen-Kaesbach
  • Tsutomu Ogata
  • Rosanna Weksberg
  • Elizabeth Algar
  • Pablo Lapunzina
Vis graf over relationer

Beckwith-Wiedemann and Silver-Russell syndromes (BWS/SRS) are two imprinting disorders (IDs) associated with disturbances of the 11p15.5 chromosomal region. In BWS, epimutations and genomic alterations within 11p15.5 are observed in >70% of patients, whereas in SRS they are observed in about 60% of the cases. In addition, 10% of the SRS patients carry a maternal uniparental disomy of chromosome 7 11p15.5. There is an increasing demand for prenatal testing of these disorders owing to family history, indicative prenatal ultrasound findings or aberrations involving chromosomes 7 and 11. The complex molecular findings underlying these disorders are a challenge not only for laboratories offering these tests but also for geneticists counseling affected families. The scope of counseling must consider the range of detectable disturbances and their origin, the lack of precise quantitative knowledge concerning the inheritance and recurrence risks for the epigenetic abnormalities, which are hallmarks of these developmental disorders. In this paper, experts in the field of BWS and SRS, including members of the European network of congenital IDs (EUCID.net; www.imprinting-disorders.eu), put together their experience and work in the field of 11p15.5-associated IDs with a focus on prenatal testing. Altogether, prenatal tests of 160 fetuses (122 referred for BWS, 38 for SRS testing) from 5 centers were analyzed and reviewed. We summarize the current knowledge on BWS and SRS with respect to diagnostic testing, the consequences for prenatal genetic testing and counseling and our cumulative experience in dealing with these disorders.European Journal of Human Genetics advance online publication, 28 October 2015; doi:10.1038/ejhg.2015.224.

OriginalsprogEngelsk
TidsskriftEuropean journal of human genetics : EJHG
Udgave nummer24
Sider (fra-til)784-793
ISSN1018-4813
DOI
StatusUdgivet - 2016

ID: 45841876