{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,23]],"date-time":"2026-07-23T08:05:41Z","timestamp":1784793941963,"version":"3.55.0"},"reference-count":33,"publisher":"Akademiai Kiado Zrt.","issue":"14","license":[{"start":{"date-parts":[[2024,4,7]],"date-time":"2024-04-07T00:00:00Z","timestamp":1712448000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100015498","name":"Innov\u00e1ci\u00f3s \u00e9s Technol\u00f3giai Miniszt\u00e9rium","doi-asserted-by":"crossref","award":["2020-4.1.1.-TKP2020-MOLOKRIV"],"award-info":[{"award-number":["2020-4.1.1.-TKP2020-MOLOKRIV"]}],"id":[{"id":"10.13039\/501100015498","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Magyar Kutat\u00e1si H\u00e1l\u00f3zat, HUN-REN\u2013SE, Endokrin Molekul\u00e1ris Patol\u00f3giai Kutat\u00f3csoport"}],"content-domain":{"domain":["www.akjournals.com"],"crossmark-restriction":true},"short-container-title":["OH"],"published-print":{"date-parts":[[2024,4,7]]},"abstract":"<jats:p>\n                    <jats:italic>Bevezet\u00e9s:<\/jats:italic>\n                    Az elm\u00falt \u00e9vtized egyik jelent\u0151s technol\u00f3giai\n                    \u00fajdons\u00e1ga az \u00fan. \u2019high-throughput\u2019 molekul\u00e1ris genetikai vizsg\u00e1lati m\u00f3dszerek \u2013\n                    mint a kromoszom\u00e1lis microarray-anal\u00edzis (chromosomal microarray analysis, CMA)\n                    \u00e9s a teljesexom-szekven\u00e1l\u00e1s (whole-exome sequencing, WES) \u2013 elterjed\u00e9se a\n                    praenatalis diagnosztik\u00e1ban.\n                    <jats:italic>C\u00e9lkit\u0171z\u00e9s:<\/jats:italic>\n                    Az elm\u00falt 5 \u00e9vben\n                    munkacsoportunk t\u00f6bb mint 252 praenatalis vizsg\u00e1latot v\u00e9gzett hazai\n                    laborat\u00f3riumi h\u00e1tt\u00e9rrel, amelyek indik\u00e1ci\u00f3j\u00e1t k\u00fcl\u00f6nb\u00f6z\u0151 s\u00falyoss\u00e1g\u00fa struktur\u00e1lis\n                    magzati ultrahangelt\u00e9r\u00e9sek k\u00e9pezt\u00e9k. A klasszikus citogenetikai vizsg\u00e1latok\n                    eredm\u00e9ny\u00e9t\u0151l f\u00fcgg\u0151en v\u00e9gezt\u00fck el a nagy felbont\u00e1s\u00fa CMA- \u00e9s WES-anal\u00edziseket a\n                    praenatalis diagnosztika \u00e9rdek\u00e9ben.\n                    <jats:italic>M\u00f3dszer:<\/jats:italic>\n                    A\n                    CMA-vizsg\u00e1latokat a \u201eGeneChip System 3000 Instrument\u201d platformmal v\u00e9gezt\u00fck az\n                    SNP-alap\u00fa komparat\u00edv hibridiz\u00e1l\u00e1s m\u00f3dszer\u00e9vel. Az \u00e1ltalunk elv\u00e9gzett\n                    \u00fajgener\u00e1ci\u00f3s szekven\u00e1l\u00e1s sor\u00e1n a teljes hum\u00e1n exom szekvenci\u00e1j\u00e1nak meghat\u00e1roz\u00e1sa\n                    IonTorrent \u00e9s Illumina platformokkal t\u00f6rt\u00e9nt.\n                    <jats:italic>Eredm\u00e9nyek:<\/jats:italic>\n                    \u00d6sszesen 252 magzati CMA-vizsg\u00e1latot v\u00e9gezt\u00fcnk, \u00e9s 42%-ban mutattunk ki\n                    valamilyen hi\u00e1nyt vagy t\u00f6bbletet, ebb\u0151l 22%-ban igazoltunk k\u00f3ros elt\u00e9r\u00e9st. 42\n                    esetben v\u00e9gezt\u00fcnk WES-t, amelyb\u0151l 9 esetben (21,4%) azonos\u00edtottunk k\u00f3ros\n                    elt\u00e9r\u00e9st az \u00f6r\u00f6kl\u00e9smenetet t\u00e1mogat\u00f3, a magzati fenot\u00edpussal felt\u00e9telezhet\u0151en\n                    \u00f6sszef\u00fcgg\u00e9sben l\u00e9v\u0151, a ClinVar adatb\u00e1zis vagy az ACMG-klasszifik\u00e1ci\u00f3 alapj\u00e1n.\n                    <jats:italic>Megbesz\u00e9l\u00e9s:<\/jats:italic>\n                    Tekintettel arra, hogy a magzati fenot\u00edpus\n                    \u00e9rt\u00e9kel\u00e9se k\u00f6zvetett, a praenatalis CMA- \u00e9s WES-elemz\u00e9snek els\u0151sorban a magzati\n                    ultrahangvizsg\u00e1lat sor\u00e1n azonos\u00edthat\u00f3 struktur\u00e1lis anom\u00e1li\u00e1kkal \u00f6sszef\u00fcgg\u0151\n                    g\u00e9nekre, kromoszom\u00e1lis r\u00e9gi\u00f3kra kell korl\u00e1toz\u00f3dnia. A sz\u00fcl\u0151k vizsg\u00e1lata mind a\n                    CMA-, mind a WES-anal\u00edzisek sor\u00e1n kiemelt jelent\u0151s\u00e9ggel b\u00edr, f\u0151leg azokban az\n                    esetekben, amelyekn\u00e9l a kapott elt\u00e9r\u00e9s nem hozhat\u00f3 egy\u00e9rtelm\u0171 \u00f6sszef\u00fcgg\u00e9sbe az\n                    ultrahangelt\u00e9r\u00e9sekkel.\n                    <jats:italic>K\u00f6vetkeztet\u00e9s:<\/jats:italic>\n                    Fontos meghat\u00e1rozni\n                    azokat a param\u00e9tereket, amelyek alapj\u00e1n a magzati mint\u00e1ban tal\u00e1lt\n                    k\u00f3piasz\u00e1m-elt\u00e9r\u00e9seket \u00e9s WES-vizsg\u00e1lattal igazolt vari\u00e1nsokat a leletben\n                    k\u00f6z\u00f6lj\u00fck (figyelembe v\u00e9ve a nemzetk\u00f6zi aj\u00e1nl\u00e1sokat). Ezek alapj\u00e1n a praenatalis\n                    klinikai genetikai tan\u00e1csad\u00e1skor sokkal haszn\u00e1lhat\u00f3bb inform\u00e1ci\u00f3k adhat\u00f3k. Orv\n                    Hetil. 2024; 165(14): 523\u2013530.\n                  <\/jats:p>","DOI":"10.1556\/650.2024.33028","type":"journal-article","created":{"date-parts":[[2024,4,7]],"date-time":"2024-04-07T00:41:21Z","timestamp":1712450481000},"page":"523-530","update-policy":"https:\/\/doi.org\/10.1556\/policypage.crossmark.crossref.2","source":"Crossref","is-referenced-by-count":0,"title":["Az els\u0151 hazai tapasztalatok \u00f6sszegz\u00e9se kromoszom\u00e1lis microarray-anal\u00edzis \u00e9s teljesexom-szekven\u00e1l\u00e1s m\u00f3dszerekkel a magzati diagnosztik\u00e1ban"],"prefix":"10.1556","volume":"165","author":[{"given":"Henriett","family":"Pik\u00f3","sequence":"first","affiliation":[{"name":"Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, Belgy\u00f3gy\u00e1szati \u00e9s Onkol\u00f3giai Klinika Budapest, Kor\u00e1nyi S. u. 2\/a, 1083 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Cytogenetic exploration of fetal\n                    ultrasound anomalies. [Ultrahangvizsg\u00e1lattal \u00e9szlelt magzati anom\u00e1li\u00e1k\n                    citogenetikai felt\u00e1r\u00e1sa.] Orv Hetil. 2004; 145: 2123\u20132133.\n                    [Hungarian]"},{"key":"R2","doi-asserted-by":"crossref","unstructured":"Miller DT, Adam MP, Aradhya S, et al. Consensus statement:\n                    chromosomal microarray is a first-tier clinical diagnostic test for individuals\n                    with developmental disabilities or congenital anomalies. Am J Hum Genet. 2010;\n                    86: 749\u2013764.","DOI":"10.1016\/j.ajhg.2010.04.006"},{"key":"R3","doi-asserted-by":"crossref","unstructured":"Langlois S, Duncan A. Use of a DNA method, QF-PCR, in the prenatal\n                    diagnosis of fetal aneuploidies. J Obstet Gynaecol Can. 2011; 33:\n                    955\u2013960.","DOI":"10.1016\/S1701-2163(16)35022-8"},{"key":"R4","doi-asserted-by":"crossref","unstructured":"Pratt M, Garritty C, Thuku M, et al. Application of exome sequencing\n                    for prenatal diagnosis: a rapid scoping review. Genet Med. 2020; 22:\n                    1925\u20131934.","DOI":"10.1038\/s41436-020-0918-y"},{"key":"R5","doi-asserted-by":"crossref","unstructured":"Chandler NJ, Scotchman E, Mellis R, et al. Lessons learnt from\n                    prenatal exome sequencing. Prenat Diagn. 2022; 42: 831\u2013844.","DOI":"10.1002\/pd.6165"},{"key":"R6","doi-asserted-by":"crossref","unstructured":"Fu F, Li R, Yu Q, et al. Application of exome sequencing for\n                    prenatal diagnosis of fetal structural anomalies: clinical experience and\n                    lessons learned from a cohort of 1618 fetuses. 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