Post‐mortem rapid aneuploidy testing for holoprosencephaly
Background Abortion and fetal death are common in fetuses with holoprosencephaly, so genetic examinations often have to be made in a post‐mortem setting. The efficiency of the conventional karyotyping using cultured fibroblasts in these situations is limited due to frequent culture failure. In the c...
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| Veröffentlicht in: | Birth defects research 2024-04, Vol.116 (4), p.e2342-n/a |
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| creator | Gergely, Lajos Repiská, Vanda Böhmer, Daniel Korbeľ, Miroslav Václavová, Zuzana McCullough, Liam Melišová, Katarína Priščáková, Petra |
| description | Background
Abortion and fetal death are common in fetuses with holoprosencephaly, so genetic examinations often have to be made in a post‐mortem 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‐mortem genetic evaluation was requested and sufficient frozen material was available, were reevaluated using the quantitative fluorescence polymerase chain reaction (QF‐PCR) technique.
Methods
Testing for aneuploidies of chromosomes 13, 15, 16, 18, 21, 22, X, and Y with the QF‐PCR technique was carried out on DNA isolated from archived frozen chorionic villi in seven cases of holoprosencephaly.
Results
QF‐PCR 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‐PCR (100%, 7/7) was superior compared to conventional karyotyping (43%, 3/7).
Conclusions
Rapid aneuploidy testing using the QF‐PCR technique is a simple, reliable, time‐ and cost‐effective method sufficient to conclude the etiologic investigation in the majority of holoprosencephaly cases post‐mortem. |
| doi_str_mv | 10.1002/bdr2.2342 |
| format | Article |
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Abortion and fetal death are common in fetuses with holoprosencephaly, so genetic examinations often have to be made in a post‐mortem 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‐mortem genetic evaluation was requested and sufficient frozen material was available, were reevaluated using the quantitative fluorescence polymerase chain reaction (QF‐PCR) technique.
Methods
Testing for aneuploidies of chromosomes 13, 15, 16, 18, 21, 22, X, and Y with the QF‐PCR technique was carried out on DNA isolated from archived frozen chorionic villi in seven cases of holoprosencephaly.
Results
QF‐PCR 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‐PCR (100%, 7/7) was superior compared to conventional karyotyping (43%, 3/7).
Conclusions
Rapid aneuploidy testing using the QF‐PCR technique is a simple, reliable, time‐ and cost‐effective method sufficient to conclude the etiologic investigation in the majority of holoprosencephaly cases post‐mortem.</description><identifier>ISSN: 2472-1727</identifier><identifier>EISSN: 2472-1727</identifier><identifier>DOI: 10.1002/bdr2.2342</identifier><identifier>PMID: 38632851</identifier><language>eng</language><publisher>Hoboken, USA: John Wiley & Sons, Inc</publisher><subject>abortion ; Aneuploidy ; Chromosomes ; DNA analysis ; Fetuses ; Holoprosencephaly ; intrauterine fetal demise ; Patau's syndrome ; Polymerase chain reaction ; QF‐PCR ; Triploidy ; Trisomy</subject><ispartof>Birth defects research, 2024-04, Vol.116 (4), p.e2342-n/a</ispartof><rights>2024 Wiley Periodicals LLC.</rights><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c3132-6757f4d8ab8d50a6b99f62abb5392a05a409c4f271e4b4ef92cf90410c38c8da3</cites><orcidid>0000-0003-3407-7914</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fbdr2.2342$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fbdr2.2342$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,776,780,1411,27901,27902,45550,45551</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/38632851$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Gergely, Lajos</creatorcontrib><creatorcontrib>Repiská, Vanda</creatorcontrib><creatorcontrib>Böhmer, Daniel</creatorcontrib><creatorcontrib>Korbeľ, Miroslav</creatorcontrib><creatorcontrib>Václavová, Zuzana</creatorcontrib><creatorcontrib>McCullough, Liam</creatorcontrib><creatorcontrib>Melišová, Katarína</creatorcontrib><creatorcontrib>Priščáková, Petra</creatorcontrib><title>Post‐mortem rapid aneuploidy testing for holoprosencephaly</title><title>Birth defects research</title><addtitle>Birth Defects Res</addtitle><description>Background
Abortion and fetal death are common in fetuses with holoprosencephaly, so genetic examinations often have to be made in a post‐mortem 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‐mortem genetic evaluation was requested and sufficient frozen material was available, were reevaluated using the quantitative fluorescence polymerase chain reaction (QF‐PCR) technique.
Methods
Testing for aneuploidies of chromosomes 13, 15, 16, 18, 21, 22, X, and Y with the QF‐PCR technique was carried out on DNA isolated from archived frozen chorionic villi in seven cases of holoprosencephaly.
Results
QF‐PCR 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‐PCR (100%, 7/7) was superior compared to conventional karyotyping (43%, 3/7).
Conclusions
Rapid aneuploidy testing using the QF‐PCR technique is a simple, reliable, time‐ and cost‐effective method sufficient to conclude the etiologic investigation in the majority of holoprosencephaly cases post‐mortem.</description><subject>abortion</subject><subject>Aneuploidy</subject><subject>Chromosomes</subject><subject>DNA analysis</subject><subject>Fetuses</subject><subject>Holoprosencephaly</subject><subject>intrauterine fetal demise</subject><subject>Patau's syndrome</subject><subject>Polymerase chain reaction</subject><subject>QF‐PCR</subject><subject>Triploidy</subject><subject>Trisomy</subject><issn>2472-1727</issn><issn>2472-1727</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2024</creationdate><recordtype>article</recordtype><recordid>eNp10M9KwzAABvAgipO5gy8gBS966JZ_bRPwovMvDBTRc0jbxHW0TU1apDcfwWf0SUzdFBE8JYcfX758ABwgOEUQ4lmaWzzFhOItsIdpgkOU4GT7130EJs6tIISIYZQQtgtGhMUEswjtgdN749qPt_fK2FZVgZVNkQeyVl1TmiLvg1a5tqifA21ssDSlaaxxqs5Us5Rlvw92tCydmmzOMXi6unyc34SLu-vb-dkizAgiOIyTKNE0ZzJleQRlnHKuYyzTNCIcSxhJCnlGNU6QoilVmuNMc0gRzAjLWC7JGByvc_3rL51vJKrCZaosfVHTOUE89gtAwj09-kNXprO1bzeomHIcw9irk7XK_HecVVo0tqik7QWCYlhVDKuKYVVvDzeJXVqp_Ed-b-jBbA1ei1L1_yeJ84sH_BX5CRPcgJU</recordid><startdate>202404</startdate><enddate>202404</enddate><creator>Gergely, Lajos</creator><creator>Repiská, Vanda</creator><creator>Böhmer, Daniel</creator><creator>Korbeľ, Miroslav</creator><creator>Václavová, Zuzana</creator><creator>McCullough, Liam</creator><creator>Melišová, Katarína</creator><creator>Priščáková, Petra</creator><general>John Wiley & Sons, Inc</general><general>Wiley Subscription Services, Inc</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7TK</scope><scope>7U7</scope><scope>C1K</scope><scope>K9.</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0003-3407-7914</orcidid></search><sort><creationdate>202404</creationdate><title>Post‐mortem rapid aneuploidy testing for holoprosencephaly</title><author>Gergely, Lajos ; Repiská, Vanda ; Böhmer, Daniel ; Korbeľ, Miroslav ; Václavová, Zuzana ; McCullough, Liam ; Melišová, Katarína ; Priščáková, Petra</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3132-6757f4d8ab8d50a6b99f62abb5392a05a409c4f271e4b4ef92cf90410c38c8da3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2024</creationdate><topic>abortion</topic><topic>Aneuploidy</topic><topic>Chromosomes</topic><topic>DNA analysis</topic><topic>Fetuses</topic><topic>Holoprosencephaly</topic><topic>intrauterine fetal demise</topic><topic>Patau's syndrome</topic><topic>Polymerase chain reaction</topic><topic>QF‐PCR</topic><topic>Triploidy</topic><topic>Trisomy</topic><toplevel>online_resources</toplevel><creatorcontrib>Gergely, Lajos</creatorcontrib><creatorcontrib>Repiská, Vanda</creatorcontrib><creatorcontrib>Böhmer, Daniel</creatorcontrib><creatorcontrib>Korbeľ, Miroslav</creatorcontrib><creatorcontrib>Václavová, Zuzana</creatorcontrib><creatorcontrib>McCullough, Liam</creatorcontrib><creatorcontrib>Melišová, Katarína</creatorcontrib><creatorcontrib>Priščáková, Petra</creatorcontrib><collection>PubMed</collection><collection>CrossRef</collection><collection>Neurosciences Abstracts</collection><collection>Toxicology Abstracts</collection><collection>Environmental Sciences and Pollution Management</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>MEDLINE - Academic</collection><jtitle>Birth defects research</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Gergely, Lajos</au><au>Repiská, Vanda</au><au>Böhmer, Daniel</au><au>Korbeľ, Miroslav</au><au>Václavová, Zuzana</au><au>McCullough, Liam</au><au>Melišová, Katarína</au><au>Priščáková, Petra</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Post‐mortem rapid aneuploidy testing for holoprosencephaly</atitle><jtitle>Birth defects research</jtitle><addtitle>Birth Defects Res</addtitle><date>2024-04</date><risdate>2024</risdate><volume>116</volume><issue>4</issue><spage>e2342</spage><epage>n/a</epage><pages>e2342-n/a</pages><issn>2472-1727</issn><eissn>2472-1727</eissn><abstract>Background
Abortion and fetal death are common in fetuses with holoprosencephaly, so genetic examinations often have to be made in a post‐mortem 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‐mortem genetic evaluation was requested and sufficient frozen material was available, were reevaluated using the quantitative fluorescence polymerase chain reaction (QF‐PCR) technique.
Methods
Testing for aneuploidies of chromosomes 13, 15, 16, 18, 21, 22, X, and Y with the QF‐PCR technique was carried out on DNA isolated from archived frozen chorionic villi in seven cases of holoprosencephaly.
Results
QF‐PCR 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‐PCR (100%, 7/7) was superior compared to conventional karyotyping (43%, 3/7).
Conclusions
Rapid aneuploidy testing using the QF‐PCR technique is a simple, reliable, time‐ and cost‐effective method sufficient to conclude the etiologic investigation in the majority of holoprosencephaly cases post‐mortem.</abstract><cop>Hoboken, USA</cop><pub>John Wiley & Sons, Inc</pub><pmid>38632851</pmid><doi>10.1002/bdr2.2342</doi><tpages>4</tpages><orcidid>https://orcid.org/0000-0003-3407-7914</orcidid></addata></record> |
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| source | Wiley Online Library Journals Frontfile Complete |
| subjects | abortion Aneuploidy Chromosomes DNA analysis Fetuses Holoprosencephaly intrauterine fetal demise Patau's syndrome Polymerase chain reaction QF‐PCR Triploidy Trisomy |
| title | Post‐mortem rapid aneuploidy testing for holoprosencephaly |
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