{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,7]],"date-time":"2026-08-07T16:00:44Z","timestamp":1786118444392,"version":"build-2736575974"},"reference-count":21,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2026,6,25]],"date-time":"2026-06-25T00:00:00Z","timestamp":1782345600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,6,25]],"date-time":"2026-06-25T00:00:00Z","timestamp":1782345600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["115\/13\u20101"],"award-info":[{"award-number":["115\/13\u20101"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["497659591"],"award-info":[{"award-number":["497659591"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2026,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>Prenatal genetic testing for imprinting disorders is rarely requested with the exception of Beckwith\u2010Wiedemann syndrome (BWS) which is associated with specific ultrasound findings (e.g.,\u00a0placental mesenchymal dysplasia, omphalocele). However, genetic testing for BWS is challenging as aberrant DNA methylation has to be addressed which often occur as mosaicism. As a growing number of requests for prenatal BWS testing is observed, data from genetic prenatal BWS testing was compiled to delineate its suitability as well as limitations.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Method<\/jats:title>\n                    <jats:p>\n                      Three European laboratories compiled the experiences from 646 prenatal samples. The samples were analysed by methylation\u2010specific assays targeting the imprinting centres in 11p15.5, in a sub\u2010cohort\n                      <jats:italic>CDKN1C<\/jats:italic>\n                      was sequenced.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>The overall detection rate for BWS specific molecular disturbances was 9.75%, and the spectrum of alterations reflected that from postnatal BWS cohorts. The rate of failing samples was in total 4.3%, nearly all failures were observed in native samples.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Prenatal testing for BWS should be considered in pregnancies with ultrasound findings or family history suggestive for BWS. In the majority of tests, evaluable results can be achieved, though mosaicism can never be excluded and therefore false\u2010negative results are possible.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/pd.70206","type":"journal-article","created":{"date-parts":[[2026,6,25]],"date-time":"2026-06-25T13:59:17Z","timestamp":1782395957000},"page":"1486-1493","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Prenatal Genetic Testing for Beckwith\u2010Wiedemann Syndrome: Considerations, Challenges and Observations (A Real\u2010World Study)"],"prefix":"10.1002","volume":"46","author":[{"given":"Melissa","family":"Connolly","sequence":"first","affiliation":[{"name":"West Midlands Genomics Laboratory  Birmingham UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Louise","family":"McClelland","sequence":"additional","affiliation":[{"name":"West Midlands Genomics Laboratory  Birmingham 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Center for Human Genetics  Stuttgart Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annette","family":"Lischka","sequence":"additional","affiliation":[{"name":"Center for Human Genetics and Genome Medicine Medical Faculty RWTH Aachen University  Aachen Germany"},{"name":"Center for Genome Medicine Massachusetts General Hospital Boston  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4659-8437","authenticated-orcid":false,"given":"Matthias","family":"Begemann","sequence":"additional","affiliation":[{"name":"Center for Human Genetics and Genome Medicine Medical Faculty RWTH Aachen University  Aachen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8706-137X","authenticated-orcid":false,"given":"Katja","family":"Eggermann","sequence":"additional","affiliation":[{"name":"Center for Human Genetics and Genome Medicine Medical Faculty RWTH Aachen University  Aachen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8419-0264","authenticated-orcid":false,"given":"Thomas","family":"Eggermann","sequence":"additional","affiliation":[{"name":"Center for Human Genetics and Genome Medicine Medical Faculty RWTH Aachen University  Aachen Germany"}],"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 2 Auxologico Italiano  Milan 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