{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,26]],"date-time":"2026-06-26T02:52:35Z","timestamp":1782442355968,"version":"3.54.5"},"reference-count":43,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2022,7,21]],"date-time":"2022-07-21T00:00:00Z","timestamp":1658361600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2022,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>The prevalence of Beckwith\u2013Wiedemann spectrum (BWSp) is tenfold increased in children conceived through assisted reproductive techniques (ART). More than 90% of ART\u2010BWSp patients reported so far display imprinting center 2 loss\u2010of\u2010methylations (IC2\u2010LoM), versus 50% of naturally conceived BWSp patients. We describe a cohort of 74 ART\u2010BWSp patients comparing their features with a cohort of naturally conceived BWSp patients, with the ART\u2010BWSp patients previously described in literature, and with the general population of children born from ART. We found that the distribution of UPD(11)pat was not significantly different in ART and naturally conceived patients. We observed 68.9% of IC2\u2010LoM and 16.2% of mosaic UPD(11)pat in our ART cohort, that strongly differ from the figure reported in other cohorts so far. Since UPD(11)pat likely results from post\u2010fertilization recombination events, our findings allows to hypothesize that more complex molecular mechanisms, besides methylation disturbances, may underlie BWSp increased risk in ART pregnancies. Moreover, comparing the clinical features of ART and non\u2010ART BWSp patients, we found that ART\u2010BWSp patients might have a milder phenotype. Finally, our data show a progressive increase in the prevalence of BWSp over time, paralleling that of ART usage in the last decades.<\/jats:p>","DOI":"10.1111\/cge.14193","type":"journal-article","created":{"date-parts":[[2022,7,17]],"date-time":"2022-07-17T05:53:55Z","timestamp":1658037235000},"page":"314-323","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Clinical and molecular characterization of patients affected by\n                    <scp>Beckwith\u2010Wiedemann<\/scp>\n                    spectrum conceived through assisted reproduction techniques"],"prefix":"10.1111","volume":"102","author":[{"given":"Diana","family":"Carli","sequence":"first","affiliation":[{"name":"Department of Public Health and Pediatric Sciences University of Torino  Torino Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matteo","family":"Operti","sequence":"additional","affiliation":[{"name":"Department of Public Health and Pediatric Sciences University of Torino  Torino Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5893-0193","authenticated-orcid":false,"given":"Silvia","family":"Russo","sequence":"additional","affiliation":[{"name":"Research Laboratory of Medical Cytogenetics and Molecular Genetics IRCCS Istituto Auxologico Italiano  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guido","family":"Cocchi","sequence":"additional","affiliation":[{"name":"Neonatology Unit, St. Orsola\u2010Malpighi Polyclinic, Department of Medical and Surgical Sciences (DIMEC) University of Bologna  Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3087-8514","authenticated-orcid":false,"given":"Donatella","family":"Milani","sequence":"additional","affiliation":[{"name":"Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4089-637X","authenticated-orcid":false,"given":"Chiara","family":"Leoni","sequence":"additional","affiliation":[{"name":"Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health Fondazione Policlinico Universitario A. Gemelli IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabetta","family":"Prada","sequence":"additional","affiliation":[{"name":"Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9458-3926","authenticated-orcid":false,"given":"Daniela","family":"Melis","sequence":"additional","affiliation":[{"name":"Department of Medicine, Surgery and Dentistry \u201cScuola Medica Salernitana\u201d University of Salerno  Fisciano Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariateresa","family":"Falco","sequence":"additional","affiliation":[{"name":"Pediatric Unit San Giovanni di Dio e Ruggi D'Aragona University Hospital  Salerno Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer","family":"Spina","sequence":"additional","affiliation":[{"name":"Department of Public Health and Pediatric Sciences University of Torino  Torino Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vera","family":"Uliana","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit University Hospital of Parma  Parma Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Osimani","family":"Sara","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Scientific Institute San Raffaele  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabio","family":"Sirchia","sequence":"additional","affiliation":[{"name":"Unit of Medical Genetics, Department of Diagnostic Medicine Fondazione IRCCS Policlinico San Matteo  Pavia Italy"},{"name":"Department of Molecular Medicine University of Pavia  Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luigi","family":"Tarani","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Medical Faculty \u201cSapienza\u201d University of Rome  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina","family":"Macchiaiolo","sequence":"additional","affiliation":[{"name":"Rare Diseases and Medical Genetics, Department of Pediatric Medicine Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Flavia","family":"Cerrato","sequence":"additional","affiliation":[{"name":"Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF) Universit\u00e0 degli Studi della Campania \u201cLuigi Vanvitelli\u201d  Caserta Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela","family":"Sparago","sequence":"additional","affiliation":[{"name":"Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF) Universit\u00e0 degli Studi della Campania \u201cLuigi Vanvitelli\u201d  Caserta Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Pignata","sequence":"additional","affiliation":[{"name":"Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF) Universit\u00e0 degli Studi della Campania \u201cLuigi Vanvitelli\u201d  Caserta Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierpaola","family":"Tannorella","sequence":"additional","affiliation":[{"name":"Research Laboratory of Medical Cytogenetics and Molecular Genetics IRCCS Istituto Auxologico Italiano  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8927-8900","authenticated-orcid":false,"given":"Simona","family":"Cardaropoli","sequence":"additional","affiliation":[{"name":"Department of Public Health and Pediatric Sciences University of Torino  Torino Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Bartuli","sequence":"additional","affiliation":[{"name":"Rare Diseases and Medical Genetics, Department of Pediatric Medicine Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Riccio","sequence":"additional","affiliation":[{"name":"Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF) Universit\u00e0 degli Studi della Campania \u201cLuigi Vanvitelli\u201d  Caserta Italy"},{"name":"Institute of Genetics and Biophysics A. 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