{"id":300566,"date":"2025-09-16T08:05:24","date_gmt":"2025-09-16T06:05:24","guid":{"rendered":"https:\/\/vithas.es\/?post_type=diagnosticprocedure&p=300566"},"modified":"2025-09-16T08:05:24","modified_gmt":"2025-09-16T06:05:24","slug":"amniocentesi","status":"publish","type":"diagnosticprocedure","link":"https:\/\/vithas.es\/ca\/prueba-diagnostica\/amniocentesi\/","title":{"rendered":"Amniocentesi"},"template":"","diagnosticproceduretype":[2217],"class_list":["post-300566","diagnosticprocedure","type-diagnosticprocedure","status-publish","hentry"],"wpml_translations":{"ca":{"id":"300566","slug":"amniocentesi","lang":"ca"},"es":{"id":"613","slug":"amniocentesis","lang":"es"}},"yoast_head":"\nAmniocentesi - Realizaci\u00f3 de proves m\u00e8diques - Vithas Hospitals<\/title>\n<meta name=\"description\" content=\"L'amniocentesi \u00e9s una t\u00e8cnica de diagn\u00f2stic prenatal que confirma o descarta la pres\u00e8ncia de defectes cromos\u00f2mics al fetus.\" \/>\n<meta name=\"robots\" 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fetals que es troben suspeses en el l\u00edquid amni\u00f2tic mitjan\u00e7ant una punci\u00f3 uterina transabdominal.\r\n\r\nL'amniocentesi consisteix en l'extracci\u00f3 d'una mostra de l\u00edquid amni\u00f2tic (l\u00edquid contingut a la bossa de les aig\u00fces on sura el fetus), mitjan\u00e7ant la punci\u00f3 amb una agulla molt fina, de la cavitat uterina a trav\u00e9s de la paret abdominal de la mare, sota control ecogr\u00e0fic.\r\n\r\nEs realitza al voltant de les 16 setmanes (mai abans de la setmana 15) i amb control ecogr\u00e0fic simultani. Actualment \u00e9s una t\u00e8cnica molt segura i pr\u00e0cticament inn\u00f2cua. Tot i aix\u00f2, les t\u00e8cniques invasives de diagn\u00f2stic prenatal comporten un risc d'avortament a conseq\u00fc\u00e8ncia del procediment, per la qual cosa nom\u00e9s s\u00f3n indicades en gestants amb risc. S'estima que el risc d'avortament atribu\u00efble a l'amniocentesi \u00e9s del 0,5-1%. Per aix\u00f2, el metge especialista \u00e9s la persona indicada per informar l'embarassada en cas de l'exist\u00e8ncia de factors de risc que aconsellin aquesta t\u00e8cnica.\r\n\r\nAmb el l\u00edquid amni\u00f2tic obtingut es poden fer estudis cromos\u00f2mics, bioqu\u00edmics, citol\u00f2gics i de gen\u00e8tica molecular.\r\n\r\nL'an\u00e0lisi cromos\u00f2mica es pot fer mitjan\u00e7ant diferents m\u00e8todes. El temps del resultat es perllonga depenent del m\u00e8tode que s'utilitza:\r\n\r\nL'estudi mitjan\u00e7ant citogen\u00e8tica cl\u00e0ssica permet estudiar morfol\u00f2gicament tots els cromosomes (cariotip) i requereix uns quants dies de cultiu. Aquest resultat triga 3 setmanes aproximadament.\r\n\r\n L'estudi CGH-Arrays o Cariotip molecular \u00e9s una nova t\u00e8cnica que permet diagn\u00f2stics submicrosc\u00f2pics en 2 setmanes.\r\n\r\nHi ha, a m\u00e9s, t\u00e8cniques de laboratori molt m\u00e9s r\u00e0pides, com la FISH que, mitjan\u00e7ant sondes espec\u00edfiques, permeten diagnosticar les alteracions num\u00e8riques dels cromosomes m\u00e9s afectats habitualment (cromosomes 13, 18, 21, X i Y) en q\u00fcesti\u00f3 de 1-3 dies.\r\n<h2>Per qu\u00e8 serveix una amniocentesi? Indicacions:<\/h2>\r\nLa indicaci\u00f3 m\u00e9s freq\u00fcent de l'amniocentesi \u00e9s l'estudi del cariotip fetal.\r\n\r\nPosseeix una alt\u00edssima fiabilitat, propera al 100%, en la confirmaci\u00f3 o descart de la pres\u00e8ncia de defectes cromos\u00f2mics al fetus. En la majoria dels casos, el resultat de la prova indica l'abs\u00e8ncia de trastorns per\u00f2, com en qualsevol altra prova prenatal, no garanteix el naixement d'un nad\u00f3 sa at\u00e8s que no \u00e9s \u00fatil per al diagn\u00f2stic de defectes morfol\u00f2gics o cognitius.\r\n\r\nEs recomana la pr\u00e0ctica de l'amniocentesi en els casos de:\r\n\r\nCribratge d'aneuplo\u00efdia amb risc \u2265 1\/250 per a trisomia 21 o 18 (per test combinat o cribratge bioqu\u00edmic de segon trimestre)\r\n<ul>\r\n \t<li>Anomalia cromos\u00f2mica en gestaci\u00f3 pr\u00e8via (especialment trisomies)<\/li>\r\n \t<li>Anomalia cromos\u00f2mica parental<\/li>\r\n \t<li>Anomalia fetal ecogr\u00e0fica (detectada durant l'ecografia morfol\u00f2gica)<\/li>\r\n \t<li>Confirmaci\u00f3 d'un resultat per DNA fetal lliure<\/li>\r\n \t<li>Confirmaci\u00f3 d'un resultat no conclusiu en vellositat corial<\/li>\r\n \t<li>CIR (Creixement Intrauter\u00ed Retardat) sever preco\u00e7 (< 22 semanas)<\/li>\r\n \t<li>CIR (Creixement Intrauter\u00ed Retardat) sever entre 22-28 setmanes amb risc intermedi<\/li>\r\n \t<li>Sonorama gen\u00e8tic amb risc \u2265 1\/250<\/li>\r\n \t<li>Anomalia discordant en bessons monocorials diamni\u00f2tics<\/li>\r\n \t<li>Risc de malaltia monog\u00e8niques amb diagn\u00f2stic molecular o bioqu\u00edmic<\/li>\r\n \t<li>Risc d'infecci\u00f3 fetal amb PCR disponible (CMV, toxoplasma))<\/li>\r\n<\/ul>\r\n<h2>Preparaci\u00f3n de la prova d'amniocentesi<\/h2>\r\nL'amniocentesi t\u00e9 una duraci\u00f3 aproximada de 30 minuts i no requereix cap preparaci\u00f3 especial.\r\n\r\nEs duu a terme a la mateixa sala d'exploraci\u00f3 ecogr\u00e0fica, no hi ha anest\u00e8sia i nom\u00e9s requereix rep\u00f2s relatiu durant les 24-48 hores seg\u00fcents, abstenci\u00f3 de relacions sexuals i banys d'immersi\u00f3 durant els 7 dies posteriors.\r\n\r\nS'haur\u00e0 d'administrar gammaglobulina anti-D en gestants RH negatives.\r\n<h2>Com es realitza una amniocentesi?<\/h2>\r\nLa mostra d'amniocentesi durant l'embar\u00e0ss'extreu inserint una agulla fina a l'\u00fater a trav\u00e9s de l'abdomen: es realitza com a ajuda de l'ec\u00f2graf\r\n<ul>\r\n\r\n \t<li>Es determina la posici\u00f3 exacta de la placenta i del fetus mitjan\u00e7ant ultras\u00f2, per permetre que el metge esculli el lloc m\u00e9s segur per inserir l'agulla per a l'amniocentesi.<\/li>\r\n \t<li>Es neteja l'abdomen. El metge insereix una agulla fina a trav\u00e9s de l'abdomen fins a arribar a l'\u00fater i extrau una mostra del l\u00edquid amni\u00f2tic.<\/li>\r\n \t<li>Despr\u00e9s de prendre la mostra, el metge comprova que els batecs del cor del fetus s\u00f3n normals mitjan\u00e7ant ultras\u00f2.<\/li>\r\n<\/ul>\r\nLa prova l'ha de fer un expert ecografista i la seva durada ronda els cinc minuts, si es tracta d'una amniocentesi diagn\u00f2stica.\r\n<h2>Recuperaci\u00f3<\/h2>\r\n<ul>\r\n \t<li>Despr\u00e9s d'una amniocentesi \u00e9s convenient fer un rep\u00f2s de 48 hores al llit.<\/li>\r\n \t<li>Si \u00e9s RH negativa, s'administra gammaglobulina anti-D.\r\nD.<\/li>\r\n<\/ul>\r\n<h2>Quins riscos hi ha?<\/h2>\r\nLa realitzaci\u00f3 de l'amniocentesi comporta algunes complicacions que cal con\u00e8ixer:\r\n<ul>\r\n \t<li>P\u00e8rdua fetal: hi ha un risc proper al 0.5-2% de p\u00e8rdua fetal\r\nRuptura prematura de membranes: risc del 0,3%<\/li>\r\n \t<li>Corioamnionitis: la infecci\u00f3 intraamni\u00f2tica \u00e9s molt infreq\u00fcent, per\u00f2 el temps d'incubaci\u00f3 \u00e9s curt i la progressi\u00f3 r\u00e0pida, generalment 24 hores despr\u00e9s del procediment.<\/li>\r\n \t<li>Altres: hemorr\u00e0gia placent\u00e0ria, hematoma de la paret abdominal o traumatisme fetal, molt infreq\u00fcents.<\/li>\r\n<\/ul>\r\nL'amniocentesi \u00e9s una prova invasiva que comporta un petit risc d'avortament, ruptura prematura de membran\u00e0s amena\u00e7a de part prematur. 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