https://m2.mtmt.hu/ eng 2026-10-24 13:53 JournalArticle 35508493 VALIDATED true 0 false 2026-09-07T12:08:27.985+0000 2026-02-20T18:27:02.396+0000 2024-11-07T20:22:47.254+0000 true 10080205 Szalóky-Siki Ágnes /api/admin/10080205 Admin Ágnes Szalóky-Siki (SE_KK_Admin5_SZSA, admin) true 2026-06-18T17:19:00.045+0000 2024-12-06T18:10:33.281+0000 true 10039043 Milánkovics Róbert /api/admin/10039043 Admin Róbert Milánkovics (PTE ÁOK admin 4) true 10039043 Admin 10101397 /api/admin/10101397 Tamás Tokai (Központi 2-3, admin) Tokai Tamás true true 2026-01-20T15:16:00.571+0000 true false true 24 24 /api/publicationtype/24 PublicationType Journal Article 1 true 24 JournalArticle true 10000059 Article true 24 24 /api/publicationtype/24 PublicationType Journal Article 1 true 24 JournalArticle /api/subtype/10000059 Szakcikk SubType Article (Journal Article) 101 true 10000059 true 1 /api/category/1 Category Scientific true 1 Konya, Marton true true /api/journal/10007440 REVIEWED PLOS ONE 1932-6203 true false 10007440 false 10007440 true 1932-6203 Journal FOREIGN 19 11 e0308008 e0308008 19 2024 Genome-Wide Non-Invasive Prenatal Testing (GW-NIPT) can provide positive results not only for common autosomal aneuploidies but also for rare autosomal trisomies (RATs) and structural chromosomal abnormalities (StrCAs). Due to their rarity, there is currently insufficient information on positive predictive value PPV of RAT and StrCA-positive cases in the literature. In this study, the screening accuracy and pregnancy outcomes of cases positive for rare chromosomal abnormalities were examined based on publications in which GW-NIPT testing was performed. True positive cases were determined using two different methodologies. One was a confirmed methodology, where only cases validated by genetic testing were considered true positives with a definite diagnosis, and the other was an extended methodology, where, in addition to cases confirmed by genetic testing, intrauterine fetal death and termination of pregnancy due to an abnormality confirmed by ultrasound examination were also considered true positives, where no diagnosis had been made but the fetus was probably affected. Seventeen studies were analyzed, with a total GW-NIPT population of 740,076. Of these, 1,738 were RAT positive. Using the confirmed method, we found the highest rates of true positives in T16, followed by T22, and T2, using the extended method, the highest rate of true positives in T15, T16 and T22. This is the first meta-analysis to determine the frequency of rare chromosomal abnormalities, test-positive rates, and the PPV of each chromosomal abnormality with high precision. Our results could aid pre- and post-test genetic counselling and help patients and clinicians in their decision-making. true true 2024 true true true false true false GOLD 2026-09-07 true https://doi.org/10.1371/journal.pone.0308008 9 0 9 8 1 9 9 9 8 9 9 8 8 8 1 0 9 8 9 8 0 2 2 Folyóiratcikk Journal Article 24 9 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 2025 0 6 6 6 6 2026 0 3 2 3 2 Q1 A false 10013908 false false false 2024-11-07T06:22:53.883+0000 Aneszteziológiai és Intenzív Terápiás Klinika (SE / AOK / K); Doktori Iskola (SE); Genomikai Medicina és Ritka Betegségek Intézete (SE / AOK / I); Pankreász Betegségek Intézete (SE / AOK / K); Szülészeti és Nőgyógyászati Klinika (SZTE / SZAOK); Szülészeti és Nőgyógyászati Klinika Üllői úti r... (SE / AOK / K / SZSZNK); Transzlációs Medicina Központ (SE / KSZE) 9 54 7 10 0 true 10101397 Language 10002 /api/language/10002 English Angol English true 2 true PersonAuthorship 121212830 /api/authorship/121212830 Konya, Marton [Kónya, Márton (Biológus), author] Centre for Translational Medicine (SU / KSZE) 1 0.1 true false false Author 10094665 /api/author/10094665 Márton Kónya (Biológus) Kónya Márton true true Konya Marton true false false AuthorshipType 1 /api/authorshiptype/1 Author 0 true 0 true false true PersonAuthorship 121212831 /api/authorship/121212831 Czimbalmos, Agnes 2 0.1 false false false Czimbalmos Agnes true false false AuthorshipType 1 /api/authorshiptype/1 Author 0 true 0 true false true PersonAuthorship 121212832 /api/authorship/121212832 Loczi, Lotti [Keszthelyi, Lotti Lúcia (Szülészet, nőgyóg...), author] Department of Obsterics and Gynecology Üllői St... (SU / FM / C / DOG); Centre for Translational Medicine (SU / KSZE) 3 0.1 false false false Author 10092560 /api/author/10092560 Lotti Lúcia Keszthelyi (Szülészet, nőgyógyászat) Keszthelyi Lotti Lúcia true true Loczi Lotti true false false AuthorshipType 1 /api/authorshiptype/1 Author 0 true 0 true false true PersonAuthorship 121212833 /api/authorship/121212833 Koi, Tamas [Kói, Tamás (információelmélet), author] Centre for Translational Medicine (SU / KSZE) 4 0.1 false false false Author 10042217 /api/author/10042217 Tamás Kói (információelmélet) Kói Tamás true 10042217 true Koi Tamas true false false AuthorshipType 1 /api/authorshiptype/1 Author 0 true 0 true false true PersonAuthorship 121212834 /api/authorship/121212834 Turan, Caner [Turan, Caner (Anesthesia and In...), author] Department of Anesthesoiology and Intensiv Therapy (SU / FM / C); Centre for Translational Medicine (SU / KSZE) 5 0.1 false false false Author 10077662 /api/author/10077662 Caner Turan (Anesthesia and Intensive Care) Turan Caner true true Turan Caner true false false AuthorshipType 1 /api/authorshiptype/1 Author 0 true 0 true false true PersonAuthorship 121212835 /api/authorship/121212835 Nagy, Rita [Nagy, Rita (Gyermekgyógyászat), author] Centre for Translational Medicine (SU / KSZE) 6 0.1 false false false Author 10081469 /api/author/10081469 Rita Nagy (Gyermekgyógyászat) Nagy Rita true true Nagy Rita true false false AuthorshipType 1 /api/authorshiptype/1 Author 0 true 0 true false true PersonAuthorship 121212836 /api/authorship/121212836 Acs, Nandor [Ács, Nándor (Szülészet-nőgyógy...), author] Department of Obsterics and Gynecology Üllői St... (SU / FM / C / DOG); Centre for Translational Medicine (SU / KSZE) 7 0.1 false false false Author 10013998 /api/author/10013998 Nándor Ács (Szülészet-nőgyógyászat) Ács Nándor true 10013998 true Acs Nandor true false false AuthorshipType 1 /api/authorshiptype/1 Author 0 true 0 true false true PersonAuthorship 121212837 /api/authorship/121212837 Hegyi, Peter [Hegyi, Péter (Gasztroenterológia), author] Institute of Pancreatic Diseases (SU / FM / C); Centre for Translational Medicine (SU / KSZE) 8 0.1 false false false Author 10002629 /api/author/10002629 Péter Hegyi (Gasztroenterológia) Hegyi Péter true 10002629 true Hegyi Peter true false false AuthorshipType 1 /api/authorshiptype/1 Author 0 true 0 true false true PersonAuthorship 121212838 /api/authorship/121212838 Varbiro, Szabolcs [Várbíró, Szabolcs (Keringésélettan), author] School of PhD Studies (SU); Department of Obsterics and Gynecology Üllői St... (SU / FM / C / DOG); Centre for Translational Medicine (SU / KSZE); Department of Obstetrics and Gynecology (SZTE / ASZMS) 9 0.1 false false false Author 10011316 /api/author/10011316 Szabolcs Várbíró (Keringésélettan) Várbíró Szabolcs true 10011316 true Varbiro Szabolcs true false false AuthorshipType 1 /api/authorshiptype/1 Author 0 true 0 true false true PersonAuthorship 121212839 /api/authorship/121212839 Gal, Aniko ✉ [Gál, Anikó (Molekuláris bioló...), author] Genomic Medicine and the Institute of Rare Dise... (SU / FM / I); Centre for Translational Medicine (SU / KSZE) 10 0.1 false true true Author 10013908 /api/author/10013908 Anikó Gál (Molekuláris biológia-genetika) Gál Anikó true 10013908 true Gal Aniko true false false AuthorshipType 1 /api/authorshiptype/1 Author 0 true 0 true false true PublicationIdentifier 27778747 /api/publicationidentifier/27778747 DOI: 10.1371/journal.pone.0308008 PlainSource 6 /api/publicationsource/6 DOI PublicationSourceType 10001 /api/publicationsourcetype/10001 DOI true true true DOI DOI https://doi.org/@@@ true true 6 true GOLD true IDENTICAL 10.1371/journal.pone.0308008 https://doi.org/10.1371/journal.pone.0308008 false true PublicationIdentifier 27987185 /api/publicationidentifier/27987185 WoS: 001349526900010 PlainSource 1 /api/publicationsource/1 WoS PublicationSourceType 10003 /api/publicationsourcetype/10003 Indexelő adatbázis false true true WoS WoS https://www.webofscience.com/wos/woscc/full-record/@@@ true true 1 true IDENTICAL 001349526900010 https://www.webofscience.com/wos/woscc/full-record/001349526900010 true true PublicationIdentifier 27924112 /api/publicationidentifier/27924112 Scopus: 85208357852 PlainSource 3 /api/publicationsource/3 Scopus PublicationSourceType 10003 /api/publicationsourcetype/10003 Indexelő adatbázis false true true Scopus Scopus http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-@@@ true true 3 true IDENTICAL 85208357852 http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-85208357852 true true PublicationIdentifier 27778746 /api/publicationidentifier/27778746 PubMed: 39499701 PlainSource 17 /api/publicationsource/17 PubMed PublicationSourceType 10003 /api/publicationsourcetype/10003 Indexelő adatbázis false true true PubMed PubMed http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=@@@&dopt=Abstract true true 17 true IDENTICAL 39499701 http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=39499701&dopt=Abstract false true Classification 12217 /api/classification/12217 Obstetrics and gynaecology true true Keyword 3375201 /api/keyword/3375201 [Meta-analysis] true true MtaRating 10486385 /api/mtarating/10486385 II. Committee on Pedagogy:A PLOS ONE 1932-6203 RatingType 10023 /api/ratingtype/10023 II. Committee on Pedagogy PedTB Institute 14107 /api/institute/14107 Pedagógiai Tudományos Bizottság HASSPHSII PedTB [1901-] 0 false true false Pedagógiai Tudományos Bizottság Pedagógiai Tudományos Bizottság true 14107 true true true A true true MtaRating 519076 /api/mtarating/519076 IX. Committee on Sociology:A nemzetközi PLOS ONE 1932-6203 RatingType 10007 /api/ratingtype/10007 IX. Committee on Sociology SZTB Institute 14102 /api/institute/14102 Committee on Sociology HASSELIX SZTB [1901-] 0 false true false Szociológiai Tudományos Bizottság Committee on Sociology true 14102 true true true A nemzetközi true 19076 true MtaRating 11551131 /api/mtarating/11551131 IX. Committee on Regional Studies:B nemzetközi PLOS ONE 1932-6203 RatingType 10010 /api/ratingtype/10010 IX. Committee on Regional Studies RegTB Institute 14100 /api/institute/14100 Committee on Regional Studies HASSELIX RTB [1901-] 0 false true false Regionális Tudományok Bizottsága Committee on Regional Studies true 14100 true true true B nemzetközi false true SjrRating 11736110 /api/sjrrating/11736110 sjr:Q1 (2024) Scopus - Multidisciplinary PLOS ONE 1932-6203 24 0.24 journal RatingType 10002 /api/ratingtype/10002 sjr sjr true true ClassificationExternal 1000 /api/classificationexternal/1000 Scopus - Multidisciplinary true 1000 true Q1 DIRECT true true /api/publication/35508493 Konya Marton et al. Genome-Wide, Non-Invasive Prenatal Testing for rare chromosomal abnormalities : A systematic review and meta-analysis of diagnostic test accuracy. (2024) PLOS ONE 1932-6203 19 11<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="10094665"><a href="/gui2/?type=authors&mode=browse&sel=10094665" target="_blank">Konya Marton (<span class="authorship-author-name">Kónya Márton</span> <span class="authorAux-mtmt"> Biológus</span>) </a> </span> <span class="author-affil"><span title="Semmelweis University">SU</span>/<span title="Központi Szervezeti Egységek (beleértve az Egyéb Szervezeti Egységeket)">KSZE</span>/Centre for Translational Medicine</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Czimbalmos Agnes </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10092560"><a href="/gui2/?type=authors&mode=browse&sel=10092560" target="_blank">Loczi Lotti (<span class="authorship-author-name">Keszthelyi Lotti Lúcia</span> <span class="authorAux-mtmt"> Szülészet, nőgyógyászat</span>) </a> </span> <span class="author-affil"><span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Clinical">C</span>/<span title="Department of Obsterics and Gynecology">DOG</span>/Department of Obsterics and Gynecology Üllői Street Department; <span title="Semmelweis University">SU</span>/<span title="Központi Szervezeti Egységek (beleértve az Egyéb Szervezeti Egységeket)">KSZE</span>/Centre for Translational Medicine</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10042217"><a href="/gui2/?type=authors&mode=browse&sel=10042217" target="_blank">Koi Tamas (<span class="authorship-author-name">Kói Tamás</span> <span class="authorAux-mtmt"> információelmélet</span>) </a> </span> <span class="author-affil"><span title="Semmelweis University">SU</span>/<span title="Központi Szervezeti Egységek (beleértve az Egyéb Szervezeti Egységeket)">KSZE</span>/Centre for Translational Medicine</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10077662"><a href="/gui2/?type=authors&mode=browse&sel=10077662" target="_blank">Turan Caner (<span class="authorship-author-name">Turan Caner</span> <span class="authorAux-mtmt"> Anesthesia and Intensive Care</span>) </a> </span> <span class="author-affil"><span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Clinical">C</span>/Department of Anesthesoiology and Intensiv Therapy; <span title="Semmelweis University">SU</span>/<span title="Központi Szervezeti Egységek (beleértve az Egyéb Szervezeti Egységeket)">KSZE</span>/Centre for Translational Medicine</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10081469"><a href="/gui2/?type=authors&mode=browse&sel=10081469" target="_blank">Nagy Rita (<span class="authorship-author-name">Nagy Rita</span> <span class="authorAux-mtmt"> Gyermekgyógyászat</span>) </a> </span> <span class="author-affil"><span title="Semmelweis University">SU</span>/<span title="Központi Szervezeti Egységek (beleértve az Egyéb Szervezeti Egységeket)">KSZE</span>/Centre for Translational Medicine</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10013998"><a href="/gui2/?type=authors&mode=browse&sel=10013998" target="_blank">Acs Nandor (<span class="authorship-author-name">Ács Nándor</span> <span class="authorAux-mtmt"> Szülészet-nőgyógyászat</span>) </a> </span> <span class="author-affil"><span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Clinical">C</span>/<span title="Department of Obsterics and Gynecology">DOG</span>/Department of Obsterics and Gynecology Üllői Street Department; <span title="Semmelweis University">SU</span>/<span title="Központi Szervezeti Egységek (beleértve az Egyéb Szervezeti Egységeket)">KSZE</span>/Centre for Translational Medicine</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10002629"><a href="/gui2/?type=authors&mode=browse&sel=10002629" target="_blank">Hegyi Peter (<span class="authorship-author-name">Hegyi Péter</span> <span class="authorAux-mtmt"> Gasztroenterológia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Clinical">C</span>/Institute of Pancreatic Diseases; <span title="Semmelweis University">SU</span>/<span title="Központi Szervezeti Egységek (beleértve az Egyéb Szervezeti Egységeket)">KSZE</span>/Centre for Translational Medicine</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10011316"><a href="/gui2/?type=authors&mode=browse&sel=10011316" target="_blank">Varbiro Szabolcs (<span class="authorship-author-name">Várbíró Szabolcs</span> <span class="authorAux-mtmt"> Keringésélettan</span>) </a> </span> <span class="author-affil"><span title="Semmelweis University">SU</span>/School of PhD Studies; <span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Clinical">C</span>/<span title="Department of Obsterics and Gynecology">DOG</span>/Department of Obsterics and Gynecology Üllői Street Department; <span title="Semmelweis University">SU</span>/<span title="Központi Szervezeti Egységek (beleértve az Egyéb Szervezeti Egységeket)">KSZE</span>/Centre for Translational Medicine; <span title="University of Szeged">SZTE</span>/<span title="Albert Szent-Györgyi Medical School">ASZMS</span>/Department of Obstetrics and Gynecology</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10013908"><a href="/gui2/?type=authors&mode=browse&sel=10013908" target="_blank">Gal Aniko ✉ (<span class="authorship-author-name">Gál Anikó</span> <span class="authorAux-mtmt"> Molekuláris biológia-genetika</span>) </a> </span> <span class="author-affil"><span title="Semmelweis University">SU</span>/<span title="Faculty of Medicine">FM</span>/<span title="Instituties">I</span>/Genomic Medicine and the Institute of Rare Diseases; <span title="Semmelweis University">SU</span>/<span title="Központi Szervezeti Egységek (beleértve az Egyéb Szervezeti Egységeket)">KSZE</span>/Centre for Translational Medicine</span> </div> </div> <div class="title"><a href="/gui2/?mode=browse&params=publication;35508493" target="_blank">Genome-Wide, Non-Invasive Prenatal Testing for rare chromosomal abnormalities : A systematic review and meta-analysis of diagnostic test accuracy</a></div> <div> <span class="journal-title">PLOS ONE</span> <span class="journal-issn">( <a target="_blank" href="https://portal.issn.org/resource/ISSN/1932-6203">1932-6203</a>)</span>: <span class="journal-volume">19</span> <span class="journal-issue">11</span> <span class="page"> Paper e0308008. 19 p. </span> <span class="year">(2024)</span> </div> <div class="pub-footer"> <span class="language" xmlns="http://www.w3.org/1999/html">Language: English | </span> <span class="identifiers"> <span class="id identifier oa_GOLD" title=" Gold "> <a style="color:blue" title="10.1371/journal.pone.0308008" target="_blank" href="https://doi.org/10.1371/journal.pone.0308008"> DOI </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="001349526900010" target="_blank" href="https://www.webofscience.com/wos/woscc/full-record/001349526900010"> WoS </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="85208357852" target="_blank" href="http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-85208357852"> Scopus </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="39499701" target="_blank" href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=39499701&dopt=Abstract"> PubMed </a> </span> </span> <OnlyViewableByAuthor><div class="ratings"> <div class="journal-subject">Journal subject: Scopus - Multidisciplinary&nbsp;&nbsp;&nbsp;Rank:&nbsp;Q1</div> <div class="journal-subject">Pedagógiai Tudományos Bizottság HASSPHSII PedTB [1901-]&nbsp;&nbsp;&nbsp;A</div> <div class="journal-subject">Committee on Sociology HASSELIX SZTB [1901-]&nbsp;&nbsp;&nbsp;A nemzetközi</div> <div class="journal-subject">Committee on Regional Studies HASSELIX RTB [1901-]&nbsp;&nbsp;&nbsp;B nemzetközi</div> </div></OnlyViewableByAuthor> <div class="publication-citation" style="margin-left: 0.5cm;"> <span title="" class="citingPub-count">Citing papers: 9</span> | Independent citation: 8 | Self citation: 1 | Unknown citation: 0 | Number of citations in WoS: 9 | Number of citations in Scopus:&nbsp;8 | WoS/Scopus assigned:&nbsp;9 | Number of citations with DOI:&nbsp;9 </div> <div class="publication-citation"> <a target="_blank" href="/api/publication?cond=citations.related;eq;35508493&sort=publishedYear,desc&sort=title"> Number of cited publications: 2 </a> </div> <div class="mtid"><span class="long-pub-mtid">Publication: 35508493</span> | <span class="status-data status-VALIDATED"> Validated </span> Core Citing | <span class="type-subtype">Journal Article ( Article ) </span> | <span class="pub-category">Scientific</span> | <span class="publication-sourceOfData">kézi felvitel</span> </div> <div class="lastModified">Last Modified: 2026.02.20. 19:27 András Balázs (MTMT Központ, admin) </div> <div class="lockedBy">Centrally managed 2026.01.20. 16:16 Tamás Tokai (Központi 2-3, admin) </div> </div></div>