{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,31]],"date-time":"2023-10-31T11:12:23Z","timestamp":1698750743086},"reference-count":48,"publisher":"Akademiai Kiado Zrt.","issue":"29","license":[{"start":{"date-parts":[[2021,7,18]],"date-time":"2021-07-18T00:00:00Z","timestamp":1626566400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["akjournals.com"],"crossmark-restriction":true},"short-container-title":["OH"],"published-print":{"date-parts":[[2021,7,18]]},"abstract":"<jats:p><jats:bold>\u00d6sszefoglal\u00f3.<\/jats:bold>\n                    <jats:italic>Bevezet\u00e9s \u00e9s c\u00e9lkit\u0171z\u00e9s:<\/jats:italic> A gyakori autoszom\u00e1lis trisomi\u00e1k \u00e9s a\n                    nemi kromosz\u00f3maelt\u00e9r\u00e9sek a mikroszk\u00f3ppal \u00e9szlelhet\u0151 kromosz\u00f3ma-rendelleness\u00e9gek\n                    kb. 80\u201385%-\u00e1t k\u00e9pviselik. A ritka kromosz\u00f3ma-rendelleness\u00e9gek klinikai\n                    k\u00f6vetkezm\u00e9nye jelent\u0151s, kimutat\u00e1sukat a jelenlegi sz\u0171r\u0151vizsg\u00e1latok ugyan nem\n                    c\u00e9lozz\u00e1k, de a teljes kromosz\u00f3maszerelv\u00e9nyt vizsg\u00e1l\u00f3, nem invaz\u00edv praenatalis\n                    tesztel\u00e9s \u00faj lehet\u0151s\u00e9get nyitott a korai felismer\u00e9s\u00fckre.\n                        <jats:italic>M\u00f3dszer:<\/jats:italic> Retrospekt\u00edv anal\u00edzis (2014\u20132019) a mikroszk\u00f3ppal\n                    kimutathat\u00f3 kromosz\u00f3ma-rendelleness\u00e9gek eloszl\u00e1s\u00e1ra, a fetoplacentaris\n                    mozaikoss\u00e1g el\u0151fordul\u00e1s\u00e1ra, klinikai \u00f6sszef\u00fcgg\u00e9seire a praenatalis vizsg\u00e1latok\n                    t\u00fckr\u00e9ben egy hazai tercier centrumban. <jats:italic>Eredm\u00e9nyek:<\/jats:italic> 2504 invaz\u00edv\n                    beavatkoz\u00e1st v\u00e9gezt\u00fcnk \u00e9s 200 kromosz\u00f3maelt\u00e9r\u00e9st mutattunk ki (8%), melyek k\u00f6z\u00fcl\n                    \u00fajonnan kialakult, ritka rendelleness\u00e9g 27 volt (13,5%). Ritka autoszom\u00e1lis\n                    trisomia 14, poliploidia 6, <jats:italic>de novo<\/jats:italic> szerkezeti\n                    kromosz\u00f3maelt\u00e9r\u00e9s 5, marker kromosz\u00f3ma 2 esetben igazol\u00f3dott. A fetoplacentaris\n                    mozaikoss\u00e1g ar\u00e1nya a gyakori\/ritka kromosz\u00f3maelt\u00e9r\u00e9sekben 12,4%\/77,8% volt (p =\n                    0,001), 17\/40 esetben lep\u00e9nyre korl\u00e1toz\u00f3dott. A gyakori trisomi\u00e1kkal k\u00f3ros\n                    tark\u00f3red\u0151-vastags\u00e1g 58%-ban, major ultrahangelt\u00e9r\u00e9s 35%-ban t\u00e1rsult, melyek\n                    jelent\u0151sen k\u00fcl\u00f6nb\u00f6ztek a ritka kromosz\u00f3maelt\u00e9r\u00e9sekben (11%, p = 0,006; 67%, p =\n                    0,047). A ritka kromosz\u00f3maelt\u00e9r\u00e9sek jellemz\u0151 praenatalis major ultrahangelt\u00e9r\u00e9se\n                    a facialis dysmorphismus volt. A teljes kromosz\u00f3maszerelv\u00e9nyt vizsg\u00e1l\u00f3\n                    praenatalis tesztel\u00e9s a ritka kromosz\u00f3maelt\u00e9r\u00e9sek 12 lep\u00e9nyi mozaikos eset\u00e9ben\n                    (44%) felt\u00e9telezhet\u0151en \u00e1lpozit\u00edv, 1 esetben (3,7%) \u00e1lnegat\u00edv eredm\u00e9nyt gener\u00e1lt\n                    volna, mik\u00f6zben a ritka autoszom\u00e1lis trisomi\u00e1k 2 eset\u00e9ben ultrahangelt\u00e9r\u00e9s\n                    n\u00e9lk\u00fcl is kor\u00e1n detekt\u00e1lta volna a ritka magzati kromosz\u00f3maelt\u00e9r\u00e9st (7,4%).\n                        <jats:italic>K\u00f6vetkeztet\u00e9s:<\/jats:italic> A norm\u00e1lis tark\u00f3red\u0151-vastags\u00e1g eset\u00e9n\n                    \u00e9szlelt major ultrahangelt\u00e9r\u00e9sek felh\u00edvhatj\u00e1k a figyelmet a d\u00f6nt\u0151en mozaikos\n                    ritka kromosz\u00f3ma-rendelleness\u00e9gekre. A teljes kromosz\u00f3maszerelv\u00e9nyt vizsg\u00e1l\u00f3,\n                    nem invaz\u00edv sz\u0171r\u0151teszt a korai diagnosztika alternat\u00edv\u00e1ja lehet, a\n                    mozaikoss\u00e1gb\u00f3l ad\u00f3d\u00f3 \u00e1lpozit\u00edv eredm\u00e9nyekre azonban sz\u00e1m\u00edtani kell. A\n                    fetoplacentaris mozaikoss\u00e1g ismerete fontos klinikai inform\u00e1ci\u00f3t biztos\u00edt, mely\n                    befoly\u00e1solhatja a terhess\u00e9g kimenetel\u00e9t, a terhess\u00e9g k\u00f6vet\u00e9s\u00e9nek m\u00f3dj\u00e1t. A\n                    pontos citogenetikai karakteriz\u00e1l\u00e1s elengedhetetlen. Orv Hetil. 2021; 162(29):\n                    1156\u20131165.<\/jats:p>\n                <jats:p><jats:bold>Summary.<\/jats:bold>\n                    <jats:italic>Introduction and objective:<\/jats:italic> To determine the prevalence of\n                    microscopically visible <jats:italic>de novo<\/jats:italic> atypical chromosomal\n                    aberrations and fetoplacental mosaicism in a prenatal tertial referral center,\n                    and to investigate the maternal and fetal characteristics in connection with\n                    genomewide non-invasive prenatal screening. <jats:italic>Method:<\/jats:italic>\n                    Retrospective cohort study from 2014 to 2019 of pregnancies with invasive\n                    genetic analysis. <jats:italic>Results:<\/jats:italic> In the cohort of 2504 cases, the\n                    proportion of CVS was 53.3%. We diagnosed 200 chromosomal aberrations (8%),\n                    including 13.5% of <jats:italic>de novo<\/jats:italic> rare chromosomal aberrations (14\n                    rare autosomal trisomies, 6 polyploidies, 5 structural aberrations and 2 small\n                    supernumerary marker chromosomes). The rate of fetoplacental mosaicism was\n                    12.4%\/77.8% in common\/atypical chromosomal aberrations (p = 0.001) and confined\n                    to placenta in 17\/40 cases. Associated ultrasound abnormalities were abnormal\n                    nuchal translucency and major malformations in 58% and 35% with common trisomies\n                    and 11% (p = 0.006) and 67% (p = 0.047) with true mosaic cases of rare\n                    abnormalities, respectively. Major ultrasound malformation was facial\n                    dysmorphism with rare aberrations. Potential application of genomewide\n                    non-invasive prenatal test in atypical chromosomal aberrations presumably would\n                    have been false-positive in 12 cases (44%), false-negative in 1 case (3.7%), and\n                    would have early detected 2 cases of rare autosomal trisomies (7.4%) without\n                    ultrasound anomalies. <jats:italic>Conclusion:<\/jats:italic> Structural ultrasound\n                    malformations with normal nuchal translucency thickness may be indicative of\n                    rare chromosomal aberrations. Application of genomewide non-invasive prenatal\n                    test is an alternative of early diagnostic methods with a potential of\n                    discordant results due to mosaicism. Knowledge about the presence of\n                    fetoplacental mosaicism influences risk estimation and genetic counseling,\n                    detailed cytogenetic characterization is of utmost importance. Orv Hetil. 2021;\n                    162(29): 1156\u20131165.<\/jats:p>","DOI":"10.1556\/650.2021.32098","type":"journal-article","created":{"date-parts":[[2021,8,31]],"date-time":"2021-08-31T10:06:01Z","timestamp":1630404361000},"page":"1156-1165","update-policy":"http:\/\/dx.doi.org\/10.1556\/policypage.crossmark.crossref.1","source":"Crossref","is-referenced-by-count":1,"title":["A ritka kromosz\u00f3ma-rendelleness\u00e9gek \u00e9s a fetoplacentaris mozaikoss\u00e1g jelent\u0151s\u00e9ge a praenatalis diagnosztik\u00e1ban a nem invaz\u00edv sz\u0171r\u0151vizsg\u00e1latok t\u00fckr\u00e9ben"],"prefix":"10.1556","volume":"162","author":[{"given":"Zsolt","family":"Tidrenczel","sequence":"first","affiliation":[{"name":"1 Magyar Honv\u00e9ds\u00e9g Eg\u00e9szs\u00e9g\u00fcgyi K\u00f6zpont, Sz\u00fcl\u00e9szet-N\u0151gy\u00f3gy\u00e1szati Oszt\u00e1ly, Genetikai Centrum, Budapest, Podmaniczky u. 111., 1062"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erika","family":"P. Tardy","sequence":"additional","affiliation":[{"name":"2 Magyar Honv\u00e9ds\u00e9g Eg\u00e9szs\u00e9g\u00fcgyi K\u00f6zpont, K\u00f6zponti Laborat\u00f3riumi Diagnosztikai Oszt\u00e1ly, Budapest"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ildik\u00f3","family":"B\u00f6jt\u00f6s","sequence":"additional","affiliation":[{"name":"2 Magyar Honv\u00e9ds\u00e9g Eg\u00e9szs\u00e9g\u00fcgyi K\u00f6zpont, K\u00f6zponti Laborat\u00f3riumi Diagnosztikai Oszt\u00e1ly, Budapest"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Edina","family":"Sarkadi","sequence":"additional","affiliation":[{"name":"2 Magyar Honv\u00e9ds\u00e9g Eg\u00e9szs\u00e9g\u00fcgyi K\u00f6zpont, K\u00f6zponti Laborat\u00f3riumi Diagnosztikai Oszt\u00e1ly, Budapest"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Judit","family":"Simon","sequence":"additional","affiliation":[{"name":"2 Magyar Honv\u00e9ds\u00e9g Eg\u00e9szs\u00e9g\u00fcgyi K\u00f6zpont, K\u00f6zponti Laborat\u00f3riumi Diagnosztikai Oszt\u00e1ly, Budapest"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Henriett","family":"Pik\u00f3","sequence":"additional","affiliation":[{"name":"3 Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, PentaCore Laborat\u00f3rium \u00e9s I. Belgy\u00f3gy\u00e1szati Klinika, Budapest"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G\u00e1bor","family":"Vermes","sequence":"additional","affiliation":[{"name":"1 Magyar Honv\u00e9ds\u00e9g Eg\u00e9szs\u00e9g\u00fcgyi K\u00f6zpont, Sz\u00fcl\u00e9szet-N\u0151gy\u00f3gy\u00e1szati Oszt\u00e1ly, Genetikai Centrum, Budapest, Podmaniczky u. 111., 1062"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J\u00e1nos","family":"Demeter","sequence":"additional","affiliation":[{"name":"1 Magyar Honv\u00e9ds\u00e9g Eg\u00e9szs\u00e9g\u00fcgyi K\u00f6zpont, Sz\u00fcl\u00e9szet-N\u0151gy\u00f3gy\u00e1szati Oszt\u00e1ly, Genetikai Centrum, Budapest, Podmaniczky u. 111., 1062"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Art\u00far","family":"Beke","sequence":"additional","affiliation":[{"name":"4 Semmelweis Egyetem, \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, Sz\u00fcl\u00e9szeti \u00e9s N\u0151gy\u00f3gy\u00e1szati Klinika, Budapest"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"425","reference":[{"key":"ref0","unstructured":"1 Papp Z. 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