{"id":35873,"date":"2025-06-18T17:34:05","date_gmt":"2025-06-18T16:34:05","guid":{"rendered":"https:\/\/www.dexeuscampus.com\/blog\/sense-categoria\/dexeus-dona-universalitza-el-tpni-com-a-prova-de-cribratge-per-millorar-la-sensibilitat-en-la-deteccio-de-les-alteracions-cromosomiques\/"},"modified":"2025-12-29T16:07:41","modified_gmt":"2025-12-29T15:07:41","slug":"dexeus-dona-cribratge-alteracions-cromosomiques","status":"publish","type":"post","link":"https:\/\/www.dexeuscampus.com\/ca\/blog\/obstetricia-ca\/dexeus-dona-cribratge-alteracions-cromosomiques\/","title":{"rendered":"Dexeus Dona universalitza el TPNI com a prova de cribratge per millorar la sensibilitat en la detecci\u00f3 de les alteracions cromos\u00f2miques"},"content":{"rendered":"\t\t
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Dexeus Dona<\/strong> ha canviat la manera de fer el cribratge de cromosomopatias del primer trimestre. En aquest moment s’ofereix, a totes les pacients, la possibilitat de realitzar un test no invasiu que analitza l’ADN fetal. Es tracta d’una de les proves de cribratge prenatal no invasiu (TPNI)<\/strong> m\u00e9s precisa i de major fiabilitat del mercat. <\/p>

El programa de cribratge es realitza entorn de la setmana 12 de gestaci\u00f3 i permet detectar les alteracions cromos\u00f2miques m\u00e9s freq\u00fcents, com la trisomia 21 i les trisomies 13 i 18 , amb una taxa de detecci\u00f3 entre el 98% i el 99%.<\/p>

En aquelles pacients que ho desitgin es pot estudiar altres alteracions gen\u00e8tiques com l’estudi d’alteracions en els cromosomes sexuals, l’estudi de microdelecciones\/microduplicacions o l’estudi de variants monog\u00e9nicas dominants, ja que permet l’estudi de CNVs a partir de 3 Mb permet detectar m\u00e9s de 130 s\u00edndromes de microdelecciones\/microduplicacions, incloent-hi la s\u00edndrome de Di George, que \u00e9s la patologia d’origen gen\u00e8tic amb major incid\u00e8ncia despr\u00e9s de la s\u00edndrome de Down (1\/2000 naixements).
<\/p>

Finalment, a m\u00e9s de totes les alteracions esmentades anteriorment i les s\u00edndromes associades a la microdelecci\u00f3n i microduplicaci\u00f3, tamb\u00e9 detecta mutacions puntuals -fins a 6.243 variants patog\u00e8niques- associades a m\u00e9s de 200 patologies i malalties monog\u00e8niques<\/a> dominants de car\u00e0cter greu, per a les quals actualment no existeix cap altre tipus d’estudi prenatal.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t

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\n\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\t\t\tM\u00e9s informaci\u00f3<\/span>\n\t\t\t\t\t<\/span>\n\t\t\t\t\t<\/a>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<\/div>\n\t\t","protected":false},"excerpt":{"rendered":"

Dexeus Dona ha canviat la manera de fer el cribratge de cromosomopatias del primer trimestre. En aquest moment s’ofereix, a totes les pacients, la possibilitat de realitzar un test no invasiu que analitza l’ADN fetal. Es tracta d’una de les proves de cribratge prenatal no invasiu (TPNI) m\u00e9s precisa i de major fiabilitat del mercat. <\/p>\n","protected":false},"author":3,"featured_media":35826,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[204],"tags":[],"class_list":["post-35873","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-obstetricia-ca"],"yoast_head":"\nDexeus Dona universalitza el TPNI com a prova de cribratge per millorar la sensibilitat en la detecci\u00f3 de les alteracions cromos\u00f2miques - Dexeus Campus<\/title>\n<meta name=\"description\" content=\"Dexeus Dona ha canviat la manera de fer el cribratge de cromosomopatias del primer trimestre. En aquest moment s'ofereix, a totes les pacients, la possibilitat de realitzar un test no invasiu que analitza l'ADN fetal. 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