{"data":{"id":"10.6084/m9.figshare.1444397","type":"dois","attributes":{"doi":"10.6084/m9.figshare.1444397","prefix":"10.6084","suffix":"m9.figshare.1444397","identifiers":[],"alternateIdentifiers":[],"creators":[{"name":"Paganini, Leda","nameType":"Personal","givenName":"Leda","familyName":"Paganini","affiliation":[],"nameIdentifiers":[]},{"name":"Carlessi, Nicole","nameType":"Personal","givenName":"Nicole","familyName":"Carlessi","affiliation":[],"nameIdentifiers":[]},{"name":"Fontana, Laura","nameType":"Personal","givenName":"Laura","familyName":"Fontana","affiliation":[],"nameIdentifiers":[]},{"name":"Silipigni, Rosamaria","nameType":"Personal","givenName":"Rosamaria","familyName":"Silipigni","affiliation":[],"nameIdentifiers":[]},{"name":"Motta, Silvia","nameType":"Personal","givenName":"Silvia","familyName":"Motta","affiliation":[],"nameIdentifiers":[]},{"name":"Fiori, Stefano","nameType":"Personal","givenName":"Stefano","familyName":"Fiori","affiliation":[],"nameIdentifiers":[]},{"name":"Guerneri, Silvana","nameType":"Personal","givenName":"Silvana","familyName":"Guerneri","affiliation":[],"nameIdentifiers":[]},{"name":"Lalatta, Faustina","nameType":"Personal","givenName":"Faustina","familyName":"Lalatta","affiliation":[],"nameIdentifiers":[]},{"name":"Cereda, Anna","nameType":"Personal","givenName":"Anna","familyName":"Cereda","affiliation":[],"nameIdentifiers":[]},{"name":"Sirchia, Silvia","nameType":"Personal","givenName":"Silvia","familyName":"Sirchia","affiliation":[],"nameIdentifiers":[]},{"name":"Miozzo, Monica","nameType":"Personal","givenName":"Monica","familyName":"Miozzo","affiliation":[],"nameIdentifiers":[]},{"name":"Tabano, Silvia","nameType":"Personal","givenName":"Silvia","familyName":"Tabano","affiliation":[],"nameIdentifiers":[]}],"titles":[{"title":"Beckwith–Wiedemann syndrome prenatal diagnosis by methylation analysis in chorionic villi"}],"publisher":"Taylor \u0026 Francis","container":{},"publicationYear":2015,"subjects":[{"subject":"Science Policy"},{"subject":"Developmental Biology"},{"subject":"Mathematics"},{"subject":"FOS: Mathematics","schemeUri":"http://www.oecd.org/science/inno/38235147.pdf","subjectScheme":"Fields of Science and Technology (FOS)"},{"subject":"FOS: Mathematics","subjectScheme":"Fields of Science and Technology (FOS)"},{"subject":"Biological Sciences"},{"subject":"Sociology"},{"subject":"FOS: Sociology","schemeUri":"http://www.oecd.org/science/inno/38235147.pdf","subjectScheme":"Fields of Science and Technology (FOS)"},{"subject":"FOS: Sociology","subjectScheme":"Fields of Science and Technology (FOS)"},{"subject":"Chemistry"},{"subject":"Molecular Biology"},{"subject":"Genetics"},{"subject":"FOS: Biological sciences","schemeUri":"http://www.oecd.org/science/inno/38235147.pdf","subjectScheme":"Fields of Science and Technology (FOS)"},{"subject":"FOS: Biological sciences","subjectScheme":"Fields of Science and Technology (FOS)"},{"subject":"Cell Biology"}],"contributors":[],"dates":[{"date":"2015-06-10","dateType":"Created"},{"date":"2015-12-03","dateType":"Updated"},{"date":"2015","dateType":"Issued"}],"language":null,"types":{"ris":"DATA","bibtex":"misc","citeproc":"dataset","schemaOrg":"Dataset","resourceType":"Dataset","resourceTypeGeneral":"Dataset"},"relatedIdentifiers":[{"relationType":"IsSupplementTo","relatedIdentifier":"10.1080/15592294.2015.1057383","relatedIdentifierType":"DOI"}],"relatedItems":[],"sizes":["24364 Bytes"],"formats":[],"version":null,"rightsList":[{"rights":"Creative Commons Attribution 4.0 International","rightsUri":"https://creativecommons.org/licenses/by/4.0/legalcode","schemeUri":"https://spdx.org/licenses/","rightsIdentifier":"cc-by-4.0","rightsIdentifierScheme":"SPDX"}],"descriptions":[{"description":"Beckwith–Wiedemann syndrome (BWS) is an imprinting disorder that can be prenatally suspected or diagnosed based on established clinical guidelines. Molecular confirmation is commonly performed on amniocytes. The possibility to use fresh (CVF) and cultured (CVC) chorionic villi has never been investigated. To verify whether CVF and CVC are reliable sources of DNA to study fetal methylation, we used pyrosequencing to test the methylation level of a number of differentially methylated regions (DMRs) at several imprinted loci (ICR1, ICR2, \u003ci\u003eH19,\u003c/i\u003e PWS/AS-ICR, \u003ci\u003eGNASXL, GNAS1A, ZAC/PLAGL1,\u003c/i\u003e and \u003ci\u003eMEST)\u003c/i\u003e and at non-imprinted \u003ci\u003eMGMT\u003c/i\u003e and \u003ci\u003eRASSF1A\u003c/i\u003e promoters. We analyzed these regions in 19 healthy pregnancies and highlighted stable methylation levels between CVF and CVC at ICR1, ICR2, \u003ci\u003eGNASXL\u003c/i\u003e, PWS/AS-ICR, and \u003ci\u003eMEST\u003c/i\u003e. Conversely, the methylation levels at \u003ci\u003eH19\u003c/i\u003e promoter, \u003ci\u003eGNAS1A and ZAC/PLAGL1\u003c/i\u003e were different in CVC compared to fresh CV. We also investigated ICR1 and ICR2 methylation level of CVF/CVC of 2 BWS-suspected fetuses (P1 and P2). P1 showed ICR2 hypomethylation, P2 showed normal methylation at both ICR1 and ICR2. Our findings, although limited to one case of BWS fetus with an imprinting defect, can suggest that ICR1 and ICR2, but not \u003ci\u003eH19\u003c/i\u003e, could be reliable targets for prenatal BWS diagnosis by methylation test in CVF and CVC. In addition, PWS/AS-ICR, \u003ci\u003eGNASXL,\u003c/i\u003e and \u003ci\u003eMEST\u003c/i\u003e, but not \u003ci\u003eGNAS1A and ZAC/PLAGL1,\u003c/i\u003e are steadily hemimethylated in CV from healthy pregnancies, independently from culture. Thus, prenatal investigation of genomic imprinting in CV needs to be validated in a locus-specific 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