https://m2.mtmt.hu/ hun 2026-04-14 23:27 JournalArticle 32151854 VALIDATED true 0 false 2026-02-24T07:59:23.202+0000 2026-02-17T12:55:45.419+0000 2021-08-22T18:04:32.710+0000 true 10062250 Molnár-Taga Márta /api/admin/10062250 Admin Molnár-Taga Márta (SE 4-es admin) true 10062250 2026-02-17T12:55:45.743+0000 2026-02-17T12:55:45.743+0000 2021-10-29T09:22:55.154+0000 true 10062062 Gere Tamásné /api/admin/10062062 Admin Gere Tamásné (SE_KK_Admin5_GT, admin) true 10062062 Admin 10073918 /api/admin/10073918 Kovács Marcell (MTMT Közp., admin) Kovács Marcell true true 2026-01-26T16:13:41.604+0000 true false true 24 24 /api/publicationtype/24 PublicationType Folyóiratcikk 1 true 24 JournalArticle true 10000059 Article true 24 24 /api/publicationtype/24 PublicationType Folyóiratcikk 1 true 24 JournalArticle /api/subtype/10000059 Szakcikk SubType Szakcikk (Folyóiratcikk) 101 true 10000059 true 1 /api/category/1 Category Tudományos true 1 Tidrenczel, Zsolt The significance of rare chromosomal abnormalities and fetoplacental mosaicism in prenatal diagnosis in the non-invasive prenatal testing era true true /api/journal/1035675 REVIEWED ORVOSI HETILAP 0030-6002 1788-6120 true true 1035675 false 1035675 true 0030-6002 1788-6120 Journal HUNGARIAN 162 29 1156 1165 1156 10 2021 Introduction and objective: To determine the prevalence of microscopically visible de novo atypical chromosomal aberrations and fetoplacental mosaicism in a prenatal tertial referral center, and to investigate the maternal and fetal characteristics in connection with genomewide non-invasive prenatal screening. Method: Retrospective cohort study from 2014 to 2019 of pregnancies with invasive genetic analysis. Results: In the cohort of 2504 cases, the proportion of CVS was 53.3%. We diagnosed 200 chromosomal aberrations (8%), including 13.5% of de novo rare chromosomal aberrations (14 rare autosomal trisomies, 6 polyploidies, 5 structural aberrations and 2 small supernumerary marker chromosomes). The rate of fetoplacental mosaicism was 12.4%/77.8% in common/atypical chromosomal aberrations (p = 0.001) and confined to placenta in 17/40 cases. Associated ultrasound abnormalities were abnormal nuchal translucency and major malformations in 58% and 35% with common trisomies and 11% (p = 0.006) and 67% (p = 0.047) with true mosaic cases of rare abnormalities, respectively. Major ultrasound malformation was facial dysmorphism with rare aberrations. Potential application of genomewide non-invasive prenatal test in atypical chromosomal aberrations presumably would have been false-positive in 12 cases (44%), false-negative in 1 case (3.7%), and would have early detected 2 cases of rare autosomal trisomies (7.4%) without ultrasound anomalies. Conclusion: Structural ultrasound malformations with normal nuchal translucency thickness may be indicative of rare chromosomal aberrations. Application of genomewide non-invasive prenatal test is an alternative of early diagnostic methods with a potential of discordant results due to mosaicism. Knowledge about the presence of fetoplacental mosaicism influences risk estimation and genetic counseling, detailed cytogenetic characterization is of utmost importance. © Szerző(k). true true 2021 false false true false true false GOLD 2026-02-24 true https://doi.org/10.1556/650.2021.32098 1 0 1 1 1 0 1 1 1 1 1 1 1 1 0 0 1 1 1 1 0 4 4 Folyóiratcikk Journal Article 24 1 Könyvrészlet Chapter in Book 25 0 Könyv Book 23 0 Egyéb konferenciaközlemény Conference paper 31 0 Egyéb konferenciakötet Conference proceedings 32 0 Oltalmi formák Protection forms 26 0 Disszertáció Thesis 28 0 Egyéb Miscellaneous 29 0 Alkotás Achievement 22 0 Kutatási adat Research data 33 0 Folyóiratcikk Journal Article 24 0 0 0 Könyvrészlet Chapter in Book 25 0 0 0 Könyv Book 23 0 0 0 Egyéb konferenciaközlemény Conference paper 31 0 0 0 Egyéb konferenciakötet Conference proceedings 32 0 0 0 Oltalmi formák Protection forms 26 0 0 0 Disszertáció Thesis 28 0 0 0 Egyéb Miscellaneous 29 0 0 0 Alkotás Achievement 22 0 0 0 Kutatási adat Research data 33 0 0 0 2023 0 1 1 1 1 Q4 A false false false false 2021-08-21T18:08:43.445+0000 Belgyógyászati és Onkológiai Klinika (SE / AOK / K); Orvosi Hetilap szerkesztősége (Kiadók / MTA KFB); Szülészeti és Nőgyógyászati Klinika (SE / AOK / K) 8 18 3 9 0 true 10073918 Language 10001 /api/language/10001 Magyar Magyar Hungarian true 1 true PersonAuthorship 97136457 /api/authorship/97136457 Tidrenczel, Zsolt ✉ [Tidrenczel, Zsolt (Szülészet- nőgyóg...), szerző] 1 0.11111111 true false true Author 10048374 /api/author/10048374 Tidrenczel Zsolt (Szülészet- nőgyógyászat, Genetika) Tidrenczel Zsolt true 10048374 true Tidrenczel Zsolt true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false true PersonAuthorship 97136458 /api/authorship/97136458 Tardy, Erika [P Tardy, Erika (Prenatalis genetika), szerző] 2 0.111 false false Author 10029365 /api/author/10029365 P Tardy Erika (Prenatalis genetika) P Tardy Erika true 10029365 true Tardy Erika true 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(2021) ORVOSI HETILAP 0030-6002 1788-6120 162 29 1156-1165<div class="JournalArticle Publication long-list"> <div class="authors"> <img title="Forrásközlemény" style="float: left" src="/frontend/resources/grid/publication-core-icon.png"> <img title="Idézőközlemény" style="float: left" src="/frontend/resources/grid/publication-citation-icon.png"> <div class="autype autype0"> <span class="author-name" mtid="10048374"><a href="/gui2/?type=authors&mode=browse&sel=10048374" target="_blank">Tidrenczel Zsolt ✉ (<span class="authorship-author-name">Tidrenczel Zsolt</span> <span class="authorAux-mtmt"> Szülészet- nőgyógyászat, Genetika</span>) </a> </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10029365"><a href="/gui2/?type=authors&mode=browse&sel=10029365" target="_blank">Tardy Erika (<span class="authorship-author-name">P Tardy Erika</span> <span class="authorAux-mtmt"> Prenatalis genetika</span>) </a> </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Böjtös Ildikó </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10048375"><a href="/gui2/?type=authors&mode=browse&sel=10048375" target="_blank">Sarkadi Edina (<span class="authorship-author-name">Sarkadi Edina</span> <span class="authorAux-mtmt"> mikrobiológia, genetika</span>) </a> </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10077043"><a href="/gui2/?type=authors&mode=browse&sel=10077043" target="_blank">Simon Judit (<span class="authorship-author-name">Simon Judit</span> <span class="authorAux-mtmt"> egészségügyi közgazdaságtan, orvostudomány, nép...</span>) </a> </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10050709"><a href="/gui2/?type=authors&mode=browse&sel=10050709" target="_blank">Pikó Henriett (<span class="authorship-author-name">Pikó Henriett</span> <span class="authorAux-mtmt"> molekuláris biológia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Klinikum">K</span>/Belgyógyászati és Onkológiai Klinika</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10054798"><a href="/gui2/?type=authors&mode=browse&sel=10054798" target="_blank">Vermes Gábor (<span class="authorship-author-name">Vermes Gábor</span> <span class="authorAux-mtmt"> szülészet-nőgyógyászat</span>) </a> </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10048580"><a href="/gui2/?type=authors&mode=browse&sel=10048580" target="_blank">Demeter János (<span class="authorship-author-name">Demeter János</span> <span class="authorAux-mtmt"> szülészet- nőgyógyászat, urológi</span>) </a> </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10000568"><a href="/gui2/?type=authors&mode=browse&sel=10000568" target="_blank">Beke Artúr (<span class="authorship-author-name">Beke Artúr</span> <span class="authorAux-mtmt"> Genetika, Szülészeti genetika, Szülészet-Nőgyóg...</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Klinikum">K</span>/Szülészeti és Nőgyógyászati Klinika</span> </div> </div> <div class="title"><a href="/gui2/?mode=browse&params=publication;32151854" target="_blank">A ritka kromoszóma-rendellenességek és a fetoplacentaris mozaikosság jelentősége a praenatalis diagnosztikában a nem invazív szűrővizsgálatok tükrében</a></div> <div> <span class="journal-title">ORVOSI HETILAP</span> <span class="journal-issn">(<a target="_blank" href="https://portal.issn.org/resource/ISSN/0030-6002">0030-6002</a> <a target="_blank" href="https://portal.issn.org/resource/ISSN/1788-6120">1788-6120</a>)</span>: <span class="journal-volume">162</span> <span class="journal-issue">29</span> <span class="page"> pp 1156-1165 </span> <span class="year">(2021)</span> </div> <div class="pub-footer"> <span class="language" xmlns="http://www.w3.org/1999/html">Nyelv: Magyar | </span> <span class="identifiers"> <span class="id identifier oa_GOLD" title=" Gold "> <a style="color:blue" title="10.1556/650.2021.32098" target="_blank" href="https://doi.org/10.1556/650.2021.32098"> DOI </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="000679289100002" target="_blank" href="https://www.webofscience.com/wos/woscc/full-record/000679289100002"> WoS </a> </span> <span class="id identifier oa_GREEN" title=" Green "> <a style="color:blue" title="145431" target="_blank" href="http://real.mtak.hu/145431"> REAL </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="85111812374" target="_blank" href="http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-85111812374"> Scopus </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="34274918" target="_blank" href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=34274918&dopt=Abstract"> PubMed </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="3093855" target="_blank" href="https://matarka.hu/egy-kozlemeny-oldala.php?MatarkaID=3093855"> Matarka </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="1938797" target="_blank" href="https://mob.aeek.hu/detailsperm.jsp?PERMID=1938797"> MOB </a> </span> </span> <OnlyViewableByAuthor><div class="ratings"> <div class="journal-subject">Folyóirat szakterülete: Scopus - Medicine (miscellaneous)&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;Q4</div> <div class="journal-subject">Pszichológiai Tudományos Bizottság II. 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