TY - JOUR
T1 - Expert consensus document
T2 - Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement
AU - Brioude, Frédéric
AU - Kalish, Jennifer M
AU - Mussa, Alessandro
AU - Foster, Alison C
AU - Bliek, Jet
AU - Ferrero, Giovanni Battista
AU - Boonen, Susanne E
AU - Cole, Trevor
AU - Baker, Robert
AU - Bertoletti, Monica
AU - Cocchi, Guido
AU - Coze, Carole
AU - De Pellegrin, Maurizio
AU - Hussain, Khalid
AU - Ibrahim, Abdulla
AU - Kilby, Mark D
AU - Krajewska-Walasek, Malgorzata
AU - Kratz, Christian P
AU - Ladusans, Edmund J
AU - Lapunzina, Pablo
AU - Le Bouc, Yves
AU - Maas, Saskia M
AU - Macdonald, Fiona
AU - Õunap, Katrin
AU - Peruzzi, Licia
AU - Rossignol, Sylvie
AU - Russo, Silvia
AU - Shipster, Caroleen
AU - Skórka, Agata
AU - Tatton-Brown, Katrina
AU - Tenorio, Jair
AU - Tortora, Chiara
AU - Grønskov, Karen
AU - Netchine, Irène
AU - Hennekam, Raoul C
AU - Prawitt, Dirk
AU - Tümer, Zeynep
AU - Eggermann, Thomas
AU - Mackay, Deborah J G
AU - Riccio, Andrea
AU - Maher, Eamonn R
PY - 2018/4
Y1 - 2018/4
N2 - 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.
AB - 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.
KW - Beckwith-Wiedemann Syndrome/complications
KW - Consensus
KW - DNA Copy Number Variations
KW - DNA Methylation
KW - Humans
KW - Molecular Diagnostic Techniques
KW - Neoplasms, Germ Cell and Embryonal/etiology
KW - Polymorphism, Single Nucleotide
KW - Prenatal Diagnosis
KW - Reproductive Techniques, Assisted
UR - https://www.nature.com/articles/nrendo.2017.166
U2 - 10.1038/nrendo.2017.166
DO - 10.1038/nrendo.2017.166
M3 - Review article
C2 - 29377879
SN - 1759-5029
VL - 14
SP - 229
EP - 249
JO - Nature Reviews Endocrinology
JF - Nature Reviews Endocrinology
IS - 4
ER -