{"id":31022,"date":"2022-01-24T23:49:02","date_gmt":"2022-01-24T21:49:02","guid":{"rendered":"https:\/\/valvekliinik.ee\/?post_type=teenus&#038;p=31022"},"modified":"2024-09-23T17:24:29","modified_gmt":"2024-09-23T14:24:29","slug":"niptify-testi","status":"publish","type":"teenus","link":"https:\/\/valvekliinik.ee\/fi\/palvelua\/niptify-testi\/","title":{"rendered":"NIPTIFY-TESTI"},"content":{"rendered":"\n<p>Valvekliinik\u2019in gynekologia- ja raskauskeskuksessa voi tehd\u00e4 Niptify-testin.<\/p>\n\n\n\n<p>NIPTIFY-tutkimuksessa analysoidaan viisi yleisint\u00e4 siki\u00f6n kromosomih\u00e4iri\u00f6t\u00e4 ja siki\u00f6n sukupuoli:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Downin oireyhtym\u00e4 (trisomia 21)<\/li>\n\n\n\n<li>DiGeorgen oireyhtym\u00e4 (22q11 mikrodeleetio)<\/li>\n\n\n\n<li>Edwardsin oireyhtym\u00e4 (trisomia 18)<\/li>\n\n\n\n<li>Pataun oireyhtym\u00e4 (trisomia 13)<\/li>\n\n\n\n<li>Turnerin oireyhtym\u00e4 (monosomia X)<\/li>\n<\/ul>\n\n\n\n<p>Lis\u00e4ksi tehd\u00e4\u00e4n siki\u00f6n koko genomin tutkimus, jonka avulla voidaan tunnistaa t\u00e4rkeit\u00e4 siki\u00f6n tai \u00e4idin terveyteen vaikuttavia poikkeavuuksia.&nbsp;Ne raportoidaan nimell\u00e4 SATUNNAISL\u00d6YD\u00d6S.&nbsp;Satunnainen l\u00f6yd\u00f6s voi olla terveen kromosomin kopioluvun muutos tai mikrodeleetio.&nbsp;Kaksikymment\u00e4yksi mikrodeleetiota pidet\u00e4\u00e4n kliinisesti merkitt\u00e4v\u00e4n\u00e4, ja tutkimuksessa voidaan toisinaan tunnistaa:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Angelmanin\/Prader-Willin oireyhtym\u00e4<\/li>\n\n\n\n<li>15q11-q13-duplikaatio-oireyhtym\u00e4<\/li>\n\n\n\n<li>Williams-Beurenin oireyhtym\u00e4<\/li>\n\n\n\n<li>7q11.23-duplikaatio-oireyhtym\u00e4<\/li>\n\n\n\n<li>1p36-deleetio-oireyhtym\u00e4<\/li>\n\n\n\n<li>Cri-du-chat -oireyhtym\u00e4, tai kissan kime\u00e4 \u00e4\u00e4ni -oireyhtym\u00e4<\/li>\n\n\n\n<li>Wolf-Hirschhornin oireyhtym\u00e4<\/li>\n\n\n\n<li>Jacobsenin oireyhtym\u00e4<\/li>\n\n\n\n<li>Langer-Giedionin oireyhtym\u00e4<\/li>\n\n\n\n<li>Duchennen lihasdystrofia<\/li>\n\n\n\n<li>17q12-deleetio-oireyhtym\u00e4<\/li>\n\n\n\n<li>Smith-Magenis -oireyhtym\u00e4<\/li>\n\n\n\n<li>Koolen-De Vriesin oireyhtym\u00e4, KANSL1<\/li>\n\n\n\n<li>Phelan-McDermidin oireyhtym\u00e4<\/li>\n\n\n\n<li>15q24-mikrodeleetio-oireyhtym\u00e4<\/li>\n\n\n\n<li>Neurofibromatoosi tyyppi 1<\/li>\n\n\n\n<li>3q29-mikrodeleetio-oireyhtym\u00e4<\/li>\n\n\n\n<li>2q31.2-deleetio-oireyhtym\u00e4<\/li>\n\n\n\n<li>Miller-Diekerin oireyhtym\u00e4<\/li>\n\n\n\n<li>Pallister-Killianin oireyhtym\u00e4<\/li>\n\n\n\n<li>Prader-Willin oireyhtym\u00e4<\/li>\n<\/ul>\n\n\n\n<p>NIPTIFY-testin voi tehd\u00e4 10+ raskausviikosta alkaen raskauden loppuun asti.\u00a0Tutkimus soveltuu\u00a0potilaalle, jolla on yksi raskaus.\u00a0Testi on tehokas my\u00f6s koeputkihedelm\u00f6ityksess\u00e4 ja luovuttajan munasolun k\u00e4yt\u00f6ss\u00e4.\u00a0Siki\u00f6n syd\u00e4menly\u00f6nti on tarpeen vahvistaa ultra\u00e4\u00e4nell\u00e4.\u00a0\u00c4idilt\u00e4 otetaan verin\u00e4yte testi\u00e4 varten, ja sit\u00e4 ennen h\u00e4n voi sy\u00f6d\u00e4 ja juoda normaalisti.\u00a0Testi\u00e4 EI VOI tehd\u00e4 moniraskauksissa tai jos potilaalla on todettu pahanlaatuinen kasvain raskauden aikana.<\/p>\n\n\n\n<p>NIPT-testi ei sis\u00e4ll\u00e4 ultra\u00e4\u00e4nitutkimusta.<\/p>\n\n\n\n<p>Suostumuslomake NIPTIFY-tutkimukseen l\u00f6ytyy T\u00c4\u00c4LT\u00c4 ja lis\u00e4tietoa niptify.ee -sivustolta.<\/p>\n","protected":false},"featured_media":0,"template":"","class_list":["post-31022","teenus","type-teenus","status-publish","hentry"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v26.6 - 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