{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,3,30]],"date-time":"2022-03-30T11:50:08Z","timestamp":1648641008341},"reference-count":15,"publisher":"Akademiai Kiado Zrt.","issue":"30","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2007,7,1]]},"abstract":"<jats:p>A Down-k\u00f3r noninvaz\u00edv, matern\u00e1lis sz\u0171r\u00e9se sor\u00e1n azonos\u00edtott fokozott kock\u00e1zat\u00fa esetekben a magzati aneuploidi\u00e1k diagnosztiz\u00e1l\u00e1s\u00e1ra gyors molekul\u00e1ris m\u00f3dszerek \u00e1llnak rendelkez\u00e9sre, ezek diagnosztikus \u00e9rt\u00e9ke azonban vitatott. \n <jats:italic>C\u00e9lkit\u0171z\u00e9s:<\/jats:italic>\n A szerz\u0151k a prospekt\u00edv vizsg\u00e1lattal adatokat k\u00edv\u00e1ntak szerezni arra a k\u00e9rd\u00e9sre, hogy milyen a megb\u00edzhat\u00f3s\u00e1ga az egyik gyors tesztnek, az interf\u00e1zis fluoreszcens in situ hibridiz\u00e1ci\u00f3nak (FISH). \n <jats:italic>M\u00f3dszerek:<\/jats:italic>\n 2002. m\u00e1jus \u00e9s 2006. szeptember k\u00f6z\u00f6tt az \u00f6sszes be\u00e9rkezett 1279 magzati mint\u00e1t megvizsg\u00e1lt\u00e1k mind interf\u00e1zis-FISH-sel, mind teny\u00e9szt\u00e9st k\u00f6vet\u0151 kariotipiz\u00e1l\u00e1ssal. \n <jats:italic>Eredm\u00e9nyek:<\/jats:italic>\n Interf\u00e1zis-FISH-vizsg\u00e1lattal 47 esetben (3,7%) \u00e9szleltek t\u00f6bblet- vagy hi\u00e1nyz\u00f3 szign\u00e1lt (32 esetben 21-trisz\u00f3mia, 15 esetben egy\u00e9b sz\u00e1mbeli rendelleness\u00e9g), ezek mindegyike megegyezett a teny\u00e9szt\u00e9s sor\u00e1n tal\u00e1lt eredm\u00e9nnyel. Tizenkilenc esetben interf\u00e1zis-FISH-sel norm\u00e1lis eredm\u00e9nyt kaptak, azonban a teny\u00e9szt\u00e9s ut\u00e1n nyert k\u00e9sz\u00edtm\u00e9nyekben rendelleness\u00e9g mutatkozott (a 19-b\u0151l 12-ben kiegyens\u00falyozott transzlok\u00e1ci\u00f3). Tov\u00e1bb elemezve ezeket az eseteket, azt az eredm\u00e9nyt kapt\u00e1k, hogy az 1279 terhess\u00e9gb\u0151l 4 (0,3%) volt olyan (3 magzat sz\u00e1m feletti kromosz\u00f3m\u00e1val, 1 kiegyens\u00falyozatlan de novo transzlok\u00e1ci\u00f3val), amelyb\u0151l \u00faj mut\u00e1ci\u00f3val rendellenes fenot\u00edpus\u00fa \u00fajsz\u00fcl\u00f6tt sz\u00fcletett volna, ha nem k\u00e9sz\u00fcl metaf\u00e1zisos vizsg\u00e1lat. A 4-b\u0151l kett\u0151ben k\u00f3ros magzati ultrahangjelek mutatkoztak. \n <jats:italic>K\u00f6vetkeztet\u00e9s:<\/jats:italic>\n Noha tov\u00e1bbi \u00f6sszehasonl\u00edt\u00f3 elemz\u00e9sekre van sz\u00fcks\u00e9g, a szerz\u0151k v\u00e9lem\u00e9nye szerint a Down-szindr\u00f3ma sz\u0171r\u00e9si protokollj\u00e1ban az interf\u00e1zis-FISH kiz\u00e1r\u00f3lagos alkalmaz\u00e1sa a diagnosztikus f\u00e1zisban elfogadhat\u00f3 lehet, ha ezt csup\u00e1n emelkedett anyai \u00e9letkor \u00e9s az anyai sz\u00e9rummarkerek alapj\u00e1n kisz\u0171rt esetekben alkalmazz\u00e1k. Amennyiben az indik\u00e1ci\u00f3 famili\u00e1ris transzlok\u00e1ci\u00f3 vagy 2. trimeszterbeli k\u00f3ros ultrahanglelet, a metaf\u00e1zisos k\u00e9sz\u00edtm\u00e9nyek \u00e9rt\u00e9kel\u00e9s\u00e9re van sz\u00fcks\u00e9g.<\/jats:p>","DOI":"10.1556\/oh.2007.28068","type":"journal-article","created":{"date-parts":[[2007,7,13]],"date-time":"2007-07-13T20:50:00Z","timestamp":1184359800000},"page":"1401-1404","source":"Crossref","is-referenced-by-count":3,"title":["Rapid diagnosis of fetal chromosomal abnormalities by fluorescence in situ hybridization"],"prefix":"10.1556","volume":"148","author":[{"given":"Kinga","family":"Hadzsiev","sequence":"first","affiliation":[{"name":"1 Orvosi Genetikai \u00e9s Gyermekfejl\u0151d\u00e9stani Int\u00e9zet P\u00e9cs J\u00f3zsef Attila u. 7. 7624"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M\u00e1rta","family":"Czak\u00f3","sequence":"additional","affiliation":[{"name":"1 Orvosi Genetikai \u00e9s Gyermekfejl\u0151d\u00e9stani Int\u00e9zet P\u00e9cs J\u00f3zsef Attila u. 7. 7624"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B\u00e9la","family":"Veszpr\u00e9mi","sequence":"additional","affiliation":[{"name":"2 \u00c1ltal\u00e1nos Orvostudom\u00e1nyi Kar, P\u00e9csi Tudom\u00e1nyegyetem Sz\u00fcl\u00e9szeti \u00e9s N\u0151gy\u00f3gy\u00e1szati Klinika P\u00e9cs"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gy\u00f6rgy","family":"Kosztol\u00e1nyi","sequence":"additional","affiliation":[{"name":"1 Orvosi Genetikai \u00e9s Gyermekfejl\u0151d\u00e9stani Int\u00e9zet P\u00e9cs J\u00f3zsef Attila u. 7. 7624"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"425","reference":[{"key":"atypb2","first-page":"3","volume":"63","year":"2000","journal-title":"Magyar N\u0151orv. 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