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Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement

Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement
Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement
Beckwith–Wiedemann syndrome (BWS), a human genomic imprinting disorder, is characterized by phenotypic variability that might include overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycaemia, lateralized overgrowth and predisposition to embryonal tumours. Delineation of the molecular defects within the imprinted 11p15.5 region can predict familial recurrence risks and the risk (and type) of embryonal tumour. Despite recent advances in knowledge, there is marked heterogeneity in clinical diagnostic criteria and care. As detailed in this Consensus Statement, an international consensus group agreed upon 72 recommendations for the clinical and molecular diagnosis and management of BWS, including comprehensive protocols for the molecular investigation, care and treatment of patients from the prenatal period to adulthood. The consensus recommendations apply to patients with Beckwith–Wiedemann spectrum (BWSp), covering classical BWS without a molecular diagnosis and BWS-related phenotypes with an 11p15.5 molecular anomaly. Although the consensus group recommends a tumour surveillance programme targeted by molecular subgroups, surveillance might differ according to the local health-care system (for example, in the United States), and the results of targeted and universal surveillance should be evaluated prospectively. International collaboration, including a prospective audit of the results of implementing these consensus recommendations, is required to expand the evidence base for the design of optimum care pathways.
1759-5029
229-249
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Macdonald, Fiona
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Brioude, Frédéric
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Kalish, Jennifer M.
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Mussa, Alessandro
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Foster, Alison C.
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Bliek, Jet
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Cole, Trevor
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Bertoletti, Monica
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Õunap, Katrin
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Peruzzi, Licia
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Rossignol, Sylvie
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Tatton-brown, Katrina
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Tenorio, Jair
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Tortora, Chiara
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Grønskov, Karen
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Netchine, Irène
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Hennekam, Raoul C.
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Prawitt, Dirk
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Tümer, Zeynep
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Eggermann, Thomas
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Mackay, Deborah J.G.
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Riccio, Andrea
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Maher, Eamonn R.
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Brioude, Frédéric, Kalish, Jennifer M., Mussa, Alessandro, Foster, Alison C., Bliek, Jet, Ferrero, Giovanni Battista, Boonen, Susanne E., Cole, Trevor, Baker, Robert, Bertoletti, Monica, Cocchi, Guido, Coze, Carole, De Pellegrin, Maurizio, Hussain, Khalid, Ibrahim, Abdulla, Kilby, Mark D., Krajewska-walasek, Malgorzata, Kratz, Christian P., Ladusans, Edmund J., Lapunzina, Pablo, Le Bouc, Yves, Maas, Saskia M., Macdonald, Fiona, Õunap, Katrin, Peruzzi, Licia, Rossignol, Sylvie, Russo, Silvia, Shipster, Caroleen, Skórka, Agata, Tatton-brown, Katrina, Tenorio, Jair, Tortora, Chiara, Grønskov, Karen, Netchine, Irène, Hennekam, Raoul C., Prawitt, Dirk, Tümer, Zeynep, Eggermann, Thomas, Mackay, Deborah J.G., Riccio, Andrea and Maher, Eamonn R. (2018) Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement. Nature Reviews Endocrinology, 14 (4), 229-249. (doi:10.1038/nrendo.2017.166).

Record type: Article

Abstract

Beckwith–Wiedemann syndrome (BWS), a human genomic imprinting disorder, is characterized by phenotypic variability that might include overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycaemia, lateralized overgrowth and predisposition to embryonal tumours. Delineation of the molecular defects within the imprinted 11p15.5 region can predict familial recurrence risks and the risk (and type) of embryonal tumour. Despite recent advances in knowledge, there is marked heterogeneity in clinical diagnostic criteria and care. As detailed in this Consensus Statement, an international consensus group agreed upon 72 recommendations for the clinical and molecular diagnosis and management of BWS, including comprehensive protocols for the molecular investigation, care and treatment of patients from the prenatal period to adulthood. The consensus recommendations apply to patients with Beckwith–Wiedemann spectrum (BWSp), covering classical BWS without a molecular diagnosis and BWS-related phenotypes with an 11p15.5 molecular anomaly. Although the consensus group recommends a tumour surveillance programme targeted by molecular subgroups, surveillance might differ according to the local health-care system (for example, in the United States), and the results of targeted and universal surveillance should be evaluated prospectively. International collaboration, including a prospective audit of the results of implementing these consensus recommendations, is required to expand the evidence base for the design of optimum care pathways.

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Accepted/In Press date: 24 October 2017
e-pub ahead of print date: 29 January 2018
Published date: 1 April 2018

Identifiers

Local EPrints ID: 418043
URI: http://eprints.soton.ac.uk/id/eprint/418043
ISSN: 1759-5029
PURE UUID: c844ea2d-96b0-418b-bb74-d73d4fd6ecc7
ORCID for Deborah J.G. Mackay: ORCID iD orcid.org/0000-0003-3088-4401

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Date deposited: 21 Feb 2018 17:30
Last modified: 17 Dec 2019 05:36

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Contributors

Author: Frédéric Brioude
Author: Jennifer M. Kalish
Author: Alessandro Mussa
Author: Alison C. Foster
Author: Jet Bliek
Author: Giovanni Battista Ferrero
Author: Susanne E. Boonen
Author: Trevor Cole
Author: Robert Baker
Author: Monica Bertoletti
Author: Guido Cocchi
Author: Carole Coze
Author: Maurizio De Pellegrin
Author: Khalid Hussain
Author: Abdulla Ibrahim
Author: Mark D. Kilby
Author: Malgorzata Krajewska-walasek
Author: Christian P. Kratz
Author: Edmund J. Ladusans
Author: Pablo Lapunzina
Author: Yves Le Bouc
Author: Saskia M. Maas
Author: Fiona Macdonald
Author: Katrin Õunap
Author: Licia Peruzzi
Author: Sylvie Rossignol
Author: Silvia Russo
Author: Caroleen Shipster
Author: Agata Skórka
Author: Katrina Tatton-brown
Author: Jair Tenorio
Author: Chiara Tortora
Author: Karen Grønskov
Author: Irène Netchine
Author: Raoul C. Hennekam
Author: Dirk Prawitt
Author: Zeynep Tümer
Author: Thomas Eggermann
Author: Andrea Riccio
Author: Eamonn R. Maher

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