{
    "abstract": "The prevalence of Beckwith-Wiedemann spectrum (BWSp) is tenfold increased in children conceived through assisted reproductive techniques (ART). More than 90% of ART-BWSp patients reported so far display imprinting center 2 loss-of-methylations (IC2-LoM), versus 50% of naturally conceived BWSp patients. We describe a cohort of 74 ART-BWSp patients comparing their features with a cohort of naturally conceived BWSp patients, with the ART-BWSp 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-LoM 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-fertilization 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-ART BWSp patients, we found that ART-BWSp 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.",
    "authors": [
        {
            "affiliation": "Department of Public Health and Pediatric Sciences, University of Torino, Torino, Italy.",
            "firstname": "Diana",
            "initials": "D",
            "lastname": "Carli"
        },
        {
            "affiliation": "Department of Public Health and Pediatric Sciences, University of Torino, Torino, Italy.",
            "firstname": "Matteo",
            "initials": "M",
            "lastname": "Operti"
        },
        {
            "affiliation": "Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milan, Italy.",
            "firstname": "Silvia",
            "initials": "S",
            "lastname": "Russo"
        },
        {
            "affiliation": "Neonatology Unit, St. Orsola-Malpighi Polyclinic, Department of Medical and Surgical Sciences (DIMEC), University of Bologna, Bologna, Italy.",
            "firstname": "Guido",
            "initials": "G",
            "lastname": "Cocchi"
        },
        {
            "affiliation": "Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy.",
            "firstname": "Donatella",
            "initials": "D",
            "lastname": "Milani"
        },
        {
            "affiliation": "Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.",
            "firstname": "Chiara",
            "initials": "C",
            "lastname": "Leoni"
        },
        {
            "affiliation": "Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy.",
            "firstname": "Elisabetta",
            "initials": "E",
            "lastname": "Prada"
        },
        {
            "affiliation": "Department of Medicine, Surgery and Dentistry \"Scuola Medica Salernitana\", University of Salerno, Fisciano, Italy.",
            "firstname": "Daniela",
            "initials": "D",
            "lastname": "Melis"
        },
        {
            "affiliation": "Pediatric Unit, San Giovanni di Dio e Ruggi D'Aragona University Hospital, Salerno, Italy.",
            "firstname": "Mariateresa",
            "initials": "M",
            "lastname": "Falco"
        },
        {
            "affiliation": "Department of Public Health and Pediatric Sciences, University of Torino, Torino, Italy.",
            "firstname": "Jennifer",
            "initials": "J",
            "lastname": "Spina"
        },
        {
            "affiliation": "Medical Genetics Unit, University Hospital of Parma, Parma, Italy.",
            "firstname": "Vera",
            "initials": "V",
            "lastname": "Uliana"
        },
        {
            "affiliation": "Department of Pediatrics, Scientific Institute San Raffaele, Milan, Italy.",
            "firstname": "Osimani",
            "initials": "O",
            "lastname": "Sara"
        },
        {
            "affiliation": "Unit of Medical Genetics, Department of Diagnostic Medicine, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.\nDepartment of Molecular Medicine, University of Pavia, Pavia, Italy.",
            "firstname": "Fabio",
            "initials": "F",
            "lastname": "Sirchia"
        },
        {
            "affiliation": "Department of Pediatrics, Medical Faculty, \"Sapienza\" University of Rome, Rome, Italy.",
            "firstname": "Luigi",
            "initials": "L",
            "lastname": "Tarani"
        },
        {
            "affiliation": "Rare Diseases and Medical Genetics, Department of Pediatric Medicine, Bambino Ges\u00f9 Children's Hospital, IRCCS, Rome, Italy.",
            "firstname": "Marina",
            "initials": "M",
            "lastname": "Macchiaiolo"
        },
        {
            "affiliation": "Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Universit\u00e0 degli Studi della Campania \"Luigi Vanvitelli\", Caserta, Italy.",
            "firstname": "Flavia",
            "initials": "F",
            "lastname": "Cerrato"
        },
        {
            "affiliation": "Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Universit\u00e0 degli Studi della Campania \"Luigi Vanvitelli\", Caserta, Italy.",
            "firstname": "Angela",
            "initials": "A",
            "lastname": "Sparago"
        },
        {
            "affiliation": "Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Universit\u00e0 degli Studi della Campania \"Luigi Vanvitelli\", Caserta, Italy.",
            "firstname": "Laura",
            "initials": "L",
            "lastname": "Pignata"
        },
        {
            "affiliation": "Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milan, Italy.",
            "firstname": "Pierpaola",
            "initials": "P",
            "lastname": "Tannorella"
        },
        {
            "affiliation": "Department of Public Health and Pediatric Sciences, University of Torino, Torino, Italy.",
            "firstname": "Simona",
            "initials": "S",
            "lastname": "Cardaropoli"
        },
        {
            "affiliation": "Rare Diseases and Medical Genetics, Department of Pediatric Medicine, Bambino Ges\u00f9 Children's Hospital, IRCCS, Rome, Italy.",
            "firstname": "Andrea",
            "initials": "A",
            "lastname": "Bartuli"
        },
        {
            "affiliation": "Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Universit\u00e0 degli Studi della Campania \"Luigi Vanvitelli\", Caserta, Italy.\nInstitute of Genetics and Biophysics A. Buzzati-Traverso, Consiglio Nazionale delle Ricerche, Naples, Italy.",
            "firstname": "Andrea",
            "initials": "A",
            "lastname": "Riccio"
        },
        {
            "affiliation": "Department of Clinical and Biological Sciences, University of Torino, Torino, Italy.",
            "firstname": "Giovanni Battista",
            "initials": "GB",
            "lastname": "Ferrero"
        },
        {
            "affiliation": "Department of Public Health and Pediatric Sciences, University of Torino, Torino, Italy.\nPediatric Clinical Genetics Unit, Regina Margherita Childrens Hospital, Citt\u00e0 della Salute e della Scienza di Torino, Torino, Italy.",
            "firstname": "Alessandro",
            "initials": "A",
            "lastname": "Mussa"
        }
    ],
    "conclusions": null,
    "copyrights": "\u00a9 2022 The Authors. Clinical Genetics published by John Wiley & Sons Ltd.",
    "doi": "10.1111/cge.14193\n10.1093/hropen/hoz044\n10.1080/03009734.2020.1726534\n10.1093/humrep/deaa272\n10.1080/03009734.2020.1729904\n10.1016/j.fertnstert.2009.01.002\n10.1542/peds.2016-4311\n10.1093/humupd/dmz001\n10.3390/genes12111704\n10.1080/15592294.2019.1615357\n10.1086/423902\n10.1186/s13148-020-00925-2\n10.1002/ajmg.a.36080\n10.1186/1868-7083-6-11\n10.1002/ajmg.a.61301\n10.1007/s00467-011-2009-4\n10.1038/ejhg.2015.88\n10.1111/cge.12635\n10.1097/01.ASN.0000023431.16173.55\n10.1038/nrendo.2017.166\n10.1136/jmg.40.1.62\n10.1086/346031\n10.1086/374824\n10.1002/ajmg.c.31740\n10.1038/sj.ejhg.5202001\n10.1016/j.ejmg.2013.06.005\n10.1002/humu.22824\n10.1093/humrep/des197\n10.1186/1868-7083-5-23\n10.1007/s10815-018-1228-z\n10.1186/s13148-019-0623-3\n10.1186/s13148-020-00900-x\n10.1002/pbc.28042\n10.1136/jmg.2006.042135\n10.1093/humrep/dei405\n10.1093/humrep/dem268\n10.1093/humrep/dem172\n10.1093/humrep/den406\n10.1159/000355544\n10.1016/j.jpeds.2016.05.038\n10.1007/s00431-011-1455-0\n10.1002/ajmg.a.37852\n10.1002/ajmg.1320420440\n10.1002/ajmg.a.61164",
    "journal": "Clinical genetics",
    "keywords": [
        "Beckwith-Wiedemann spectrum",
        "assisted reproductive technologies",
        "hypomethylation",
        "imprinting disorders",
        "uniparental disomy"
    ],
    "methods": null,
    "publication_date": "2022-07-18",
    "pubmed_id": "35842840\n32042927\n32124667\n33251542\n32101068\n19201275\n28634246\n30753453\n34828310\n31144574\n15284956\n32928291\n23918458\n24982696\n31339634\n22015620\n25898929\n26138266\n12138139\n29377879\n12525545\n12439823\n12772698\n31469230\n18212817\n23892181\n26077438\n22674207\n24325814\n29936652\n30732658\n32698867\n31612591\n16825435\n16361294\n17921133\n17586835\n19073614\n24335096\n27372391\n21448630\n27480579\n1609846\n31067005",
    "results": null,
    "title": "Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques.",
    "xml": "<Element 'PubmedArticle' at 0x788505da9710>"
}