{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T08:04:00Z","timestamp":1753862640814,"version":"3.41.2"},"reference-count":12,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2024,4,17]],"date-time":"2024-04-17T00:00:00Z","timestamp":1713312000000},"content-version":"vor","delay-in-days":16,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2024,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Abortion and fetal death are common in fetuses with holoprosencephaly, so genetic examinations often have to be made in a post\u2010mortem setting. The efficiency of the conventional karyotyping using cultured fibroblasts in these situations is limited due to frequent culture failure. In the current study, archived cases of holoprosencephaly, where post\u2010mortem genetic evaluation was requested and sufficient frozen material was available, were reevaluated using the quantitative fluorescence polymerase chain reaction (QF\u2010PCR) technique.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Testing for aneuploidies of chromosomes 13, 15, 16, 18, 21, 22, X, and Y with the QF\u2010PCR technique was carried out on DNA isolated from archived frozen chorionic villi in seven cases of holoprosencephaly.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>QF\u2010PCR was successful in all seven cases. Two cases of trisomy 13, two cases of triploidy, and one case of trisomy 18 was found meaning a 71% diagnostic yield. The success rate of QF\u2010PCR (100%, 7\/7) was superior compared to conventional karyotyping (43%, 3\/7).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Rapid aneuploidy testing using the QF\u2010PCR technique is a simple, reliable, time\u2010 and cost\u2010effective method sufficient to conclude the etiologic investigation in the majority of holoprosencephaly cases post\u2010mortem.<\/jats:p><\/jats:sec>","DOI":"10.1002\/bdr2.2342","type":"journal-article","created":{"date-parts":[[2024,4,18]],"date-time":"2024-04-18T05:13:25Z","timestamp":1713417205000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Post\u2010mortem rapid aneuploidy testing for holoprosencephaly"],"prefix":"10.1002","volume":"116","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3407-7914","authenticated-orcid":false,"given":"Lajos","family":"Gergely","sequence":"first","affiliation":[{"name":"Institute of Medical Biology, Genetics and Clinical Genetics, Faculty of Medicine Comenius University Bratislava  Bratislava Slovakia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vanda","family":"Repisk\u00e1","sequence":"additional","affiliation":[{"name":"Institute of Medical Biology, Genetics and Clinical Genetics, Faculty of Medicine Comenius University Bratislava  Bratislava Slovakia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel","family":"B\u00f6hmer","sequence":"additional","affiliation":[{"name":"Institute of Medical Biology, Genetics and Clinical Genetics, Faculty of Medicine Comenius University Bratislava  Bratislava Slovakia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miroslav","family":"Korbe\u013e","sequence":"additional","affiliation":[{"name":"1st Department of Gynaecology and Obstetrics, Faculty of Medicine Comenius University Bratislava  Bratislava Slovakia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zuzana","family":"V\u00e1clavov\u00e1","sequence":"additional","affiliation":[{"name":"1st Department of Gynaecology and Obstetrics, Faculty of Medicine Comenius University Bratislava  Bratislava Slovakia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liam","family":"McCullough","sequence":"additional","affiliation":[{"name":"1st Department of Gynaecology and Obstetrics, Faculty of Medicine Comenius University Bratislava  Bratislava Slovakia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katar\u00edna","family":"Meli\u0161ov\u00e1","sequence":"additional","affiliation":[{"name":"Institute of Medical Biology, Genetics and Clinical Genetics, Faculty of Medicine Comenius University Bratislava  Bratislava Slovakia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Petra","family":"Pri\u0161\u010d\u00e1kov\u00e1","sequence":"additional","affiliation":[{"name":"Institute of Medical Biology, Genetics and Clinical Genetics, Faculty of Medicine Comenius University Bratislava  Bratislava Slovakia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,4,17]]},"reference":[{"key":"e_1_2_11_2_1","unstructured":"American College of Obstetricians and GynecologistsManagement of Stillbirth [online].https:\/\/www.acog.org\/clinical\/clinical-guidance\/obstetric-care-consensus\/articles\/2020\/03\/management-of-stillbirthAccessed January 16 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