{"id":6318,"date":"2024-10-30T18:47:55","date_gmt":"2024-10-30T17:47:55","guid":{"rendered":"https:\/\/ern-ithaca.eu\/?page_id=6318"},"modified":"2025-04-04T14:57:51","modified_gmt":"2025-04-04T12:57:51","slug":"beckwith-wiedemann-guideline","status":"publish","type":"page","link":"https:\/\/ern-ithaca.eu\/de\/guidelines\/ern-ithaca-guidelines\/beckwith-wiedemann-guideline\/","title":{"rendered":"Beckwith\u2013Wiedemann Guideline"},"content":{"rendered":"<p class=\"has-vivid-cyan-blue-color has-text-color has-link-color wp-elements-1 wp-block-paragraph\"><em><strong>This recommendation is aligned with the latest research findings available as of April 2018.<\/strong><\/em><\/p>\n\n\n\n<h4 class=\"wp-block-heading\" id=\"background-1\">Background<\/h4>\n\n\n\n<p class=\"wp-block-paragraph\">Beckwith\u2013Wiedemann 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\u2013Wiedemann 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.<\/p>\n\n\n\n<div style=\"height:62px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h4 class=\"wp-block-heading\" id=\"methods-1\">Methods<\/h4>\n\n\n\n<p class=\"wp-block-paragraph\">A PubMed search using the keywords \u201cBeckwith Wiedemann\u201d, \u201cWiedemann Beckwith\u201d or \u201cEMG syndrome\u201d yielded articles of interest that were selected on the basis of the abstracts, with particular consideration given to the number of patients included and the description of the molecular mechanisms. Only articles mentioning the molecular mechanisms were retained. Articles were then reviewed by at least two experts and sorted into three groups: clinical diagnosis (group 1); molecular diagnosis (group 2); and clinical management (group 3).<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">The international BWS consensus group comprised 41 participants from 36 institutions across 11 countries, predominantly based in Europe, including clinicians, clinical and research scientists and patient group representatives with expertise in different aspects of BWS (clinical and molecular geneticists, paediatric endocrinologists, oncologists, orthopaedists, oro-facial surgeons and nephrologists). A modified Delphi consensus process was adopted<sup><a href=\"https:\/\/www.nature.com\/articles\/nrendo.2017.166#ref-CR4\">4<\/a><\/sup>. Discussions occurred via conference calls, email communications and file exchanges. Two face-to-face meetings were held: a preliminary meeting of 11 participants (including one patient group representative) in February 2016 to identify the key issues to be addressed by the consensus group and a plenary 3-day meeting involving 35 participants (including 2 patient group representatives) in March 2017. During this plenary meeting, experts participated in one of the three subgroups (clinical, molecular or management) on the basis of their field of expertise, discussed the draft consensus documents and formulated and voted on the consensus recommendations (<a href=\"https:\/\/www.nature.com\/articles\/nrendo.2017.166#Sec3\">Box 1<\/a>). This Consensus Statement summarizes the outcome of these discussions and is divided into three subject areas: clinical aspects; molecular aspects; and care and management.<\/p>\n\n\n\n<div style=\"height:62px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h4 class=\"wp-block-heading\" id=\"conclusion-1\">Conclusion<\/h4>\n\n\n\n<p class=\"wp-block-paragraph\">The recommendations of the first international BWS consensus group described in this Consensus Statement provide a framework for improving the diagnosis and management of BWSp. As BWSp is characterized by complex genetics and variable multisystem phenotypes, it is important that a lead clinician is identified for each patient (<a href=\"https:\/\/www.nature.com\/articles\/nrendo.2017.166#Tab4\">Table 4<\/a>, R22) to ensure coordination of the numerous aspects of care throughout childhood (<a href=\"https:\/\/www.nature.com\/articles\/nrendo.2017.166#MOESM22\">Supplementary information S5 (table)<\/a>). The proposed diagnostic and care pathways are intended to be practical and cost-effective (for example, targeting tumour surveillance to high-risk groups should reduce costs compared with universal surveillance strategies). Nevertheless, in some health-care systems and medicolegal environments, further evidence might be required to shift clinical practice (for example, tumour surveillance in North America). Thus, it is important that implementation of these consensus recommendations be accompanied by prospective audits in order to expand the evidence base for future consensus initiatives.<\/p>\n\n\n\n<div style=\"height:62px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h4 class=\"wp-block-heading\" id=\"reference-1\">Reference<\/h4>\n\n\n\n<p class=\"wp-block-paragraph\">Brioude, F., Kalish, J., Mussa, A.&nbsp;<em>et al.<\/em>&nbsp;Clinical and molecular diagnosis, screening and management of Beckwith\u2013Wiedemann syndrome: an international consensus statement.&nbsp;<em>Nat Rev Endocrinol<\/em>&nbsp;<strong>14,&nbsp;<\/strong>229\u2013249 (2018).&nbsp;<a href=\"https:\/\/doi.org\/10.1038\/nrendo.2017.166\">https:\/\/doi.org\/10.1038\/nrendo.2017.166<\/a><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><a href=\"https:\/\/www.nature.com\/articles\/nrendo.2017.166.pdf\"><strong>See the full publication on Nature<\/strong><\/a><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><\/p>","protected":false},"excerpt":{"rendered":"<p>This recommendation is aligned with the latest research findings available as of April 2018. Background Beckwith\u2013Wiedemann 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 [&hellip;]<\/p>\n","protected":false},"author":253,"featured_media":0,"parent":97,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"footnotes":""},"class_list":["post-6318","page","type-page","status-publish","hentry"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.7 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Beckwith\u2013Wiedemann Guideline - ERN ITHACA<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/ern-ithaca.eu\/de\/guidelines\/ern-ithaca-guidelines\/beckwith-wiedemann-guideline\/\" \/>\n<meta property=\"og:locale\" content=\"de_DE\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Beckwith\u2013Wiedemann Guideline - ERN ITHACA\" \/>\n<meta property=\"og:description\" content=\"This recommendation is aligned with the latest research findings available as of April 2018. Background Beckwith\u2013Wiedemann 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. 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