{"id":35682,"date":"2025-06-10T16:59:04","date_gmt":"2025-06-10T15:59:04","guid":{"rendered":"https:\/\/www.dexeuscampus.com\/blog\/sense-categoria\/el-cribratge-genetic-de-portadors-permet-reduir-a-la-meitat-els-resultats-adversos-en-tractaments-de-donacio-doocits-considerats-potencialment-de-baix-risc\/"},"modified":"2025-06-13T15:35:46","modified_gmt":"2025-06-13T14:35:46","slug":"cribratge-genetic-portadors-tractaments-ovodonacio","status":"publish","type":"post","link":"https:\/\/www.dexeuscampus.com\/ca\/blog\/reproduccio-assistida\/cribratge-genetic-portadors-tractaments-ovodonacio\/","title":{"rendered":"El cribratge gen\u00e8tic de portadors permet reduir a la meitat els resultats adversos en tractaments de donaci\u00f3 d\u2019o\u00f2cits, considerats potencialment de baix risc"},"content":{"rendered":"\t\t
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Article:<\/p>\r\n

Mitigating adverse pregnancy and neonatal outcomes through expanded carrier screening in an oocyte donation programme<\/a><\/p>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t

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Gabriela Palacios-Verd\u00fa, Elisabet Clua, Marina Sumarroca, Marta Roca-Feliu, Thomas Freour, Nikolaos P Polyzos.
Reprod Biomed Online.<\/strong> 2024 Dec 2;50(6):104744.
DOI: 10.1016\/j.rbmo.2024.104744<\/a><\/p>\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

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La demanda de tractaments que requereixen una donaci\u00f3 d\u2019o\u00f2cits s\u2019ha incrementat de manera significativa a causa del retard de la maternitat. Segons dades de la European Society of Human Reproduction and Embriology<\/em> (ESHRE), Espanya \u00e9s el pa\u00eds que duu a terme un nombre m\u00e9s elevat de tractaments d\u2019aquest tipus. <\/p>

Molts centres ofereixen la possibilitat de fer un estudi ampliat de cribratge de portadors a les parelles que recorren a t\u00e8cniques de reproducci\u00f3 assistida per disminuir el risc de transmetre a la seva descend\u00e8ncia determinades malalties gen\u00e8tiques amb un model d\u2019her\u00e8ncia recessiu. Aquest model d\u2019her\u00e8ncia fa que una persona desenvolupi la malaltia si hereta dues c\u00f2pies del gen alterat \u2014una de cada progenitor\u2014 que generalment s\u00f3n portadors sans. Els cribratges de portadors tamb\u00e9 s\u2019apliquen en els cicles de reproducci\u00f3 assistida amb donaci\u00f3 de g\u00e0metes per assignar donants compatibles i disminuir el risc de descend\u00e8ncia afectada per les malalties estudiades. <\/p>

A la literatura cient\u00edfica s\u2019hi troben poques publicacions de nens nascuts amb una malaltia gen\u00e8tica heretada d\u2019un\/a donant de g\u00e0metes. Malgrat que es dugui a terme una selecci\u00f3 molt rigorosa dels donants, sempre existeix un risc residual de tenir descend\u00e8ncia afectada per una malaltia gen\u00e8tica. Per aquest motiu, un equip d\u2019investigadors de Dexeus Dona, liderat per la Dra. Gabriela Palacios, de la Unitat d\u2019Assessorament Gen\u00e8tic de Dexeus Dona<\/strong> ha dut a terme un ampli estudi retrospectiu per esbrinar quin \u00e9s l\u2019impacte d\u2019aquests cribratges en la reducci\u00f3 de resultats adversos en beb\u00e8s nascuts de cicles de donaci\u00f3 d\u2019o\u00f2cits. Aquesta informaci\u00f3 \u00e9s crucial per oferir un assessorament adequat als pacients i justificar la inclusi\u00f3 dels estudis de cribratge en els programes de donaci\u00f3 de g\u00e0metes, tant per als donants com per a les receptores d\u2019o\u00f2cits o de semen. <\/p>

Es van estudiar els resultats adversos d\u2019un total de 4.565 cicles de donaci\u00f3 d\u2019o\u00f2cits, assignats a les categories de baix risc o d\u2019alt risc. Es va identificar el nombre de casos considerats d\u2019alt risc (portadors de la mateixa malaltia autos\u00f2mica recessiva) despr\u00e9s dels resultats del cribratge de portadors realitzat a la donant d\u2019o\u00f2cits i a la parella masculina de la receptora (o al donant de semen, en cas de doble donaci\u00f3). <\/p>

En total, 67 receptores d\u2019o\u00f2cits (1,47 %) van notificar un resultat obst\u00e8tric o neonatal advers. Es va confirmar una etiologia gen\u00e8tica en 25 casos (37,3 %). Els 42 casos restants (62,7 %) inclo\u00efen malformacions cong\u00e8nites, trastorns del neurodesenvolupament i altres afeccions d\u2019origen gen\u00e8tic desconegut. A m\u00e9s, es van identificar 211 casos (4,6 %, 211\/4565) considerats d\u2019alt risc (equivalent a un risc de descend\u00e8ncia afectada de l\u20191,15 %). D\u2019altra banda, 52 candidates a donants d\u2019o\u00f2cits (2,8 %, 52\/1875) eren portadores de malalties lligades al cromosoma X (equivalent a un risc de 0,7 % de descend\u00e8ncia afectada) i, per tant, van ser desestimades del programa de donaci\u00f3 d\u2019o\u00f2cits. <\/p>

Els autors conclouen que la implementaci\u00f3 dels cribratges de portadors ampliats va permetre reduir en un 55,7 % el risc de resultats adversos, que va passar d\u2019un percentatge potencial del 3,32 % a l\u20191,47 %. No obstant aix\u00f2, alguns resultats adversos continuen sent inevitables. <\/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<\/div>\n\t\t","protected":false},"excerpt":{"rendered":"

La demanda de tractaments que requereixen una donaci\u00f3 d\u2019o\u00f2cits s\u2019ha incrementat de manera significativa a causa del retard de la maternitat. Segons dades de la European Society of Human Reproduction and Embriology (ESHRE), Espanya \u00e9s el pa\u00eds que duu a terme un nombre m\u00e9s elevat de tractaments d\u2019aquest tipus. <\/p>\n","protected":false},"author":3,"featured_media":35601,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[206],"tags":[],"class_list":["post-35682","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-reproduccio-assistida"],"yoast_head":"\nEl cribratge gen\u00e8tic de portadors permet reduir a la meitat els resultats adversos en tractaments de donaci\u00f3 d\u2019o\u00f2cits, considerats potencialment de baix risc - Dexeus Campus<\/title>\n<meta name=\"description\" content=\"La demanda de tractaments que requereixen una donaci\u00f3 d\u2019o\u00f2cits s\u2019ha incrementat de manera significativa a causa del retard de la maternitat. 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