{"id":24874,"date":"2024-05-02T09:31:27","date_gmt":"2024-05-02T07:31:27","guid":{"rendered":"https:\/\/www.phoenixcom.cz\/press\/?p=24874"},"modified":"2024-05-02T09:35:28","modified_gmt":"2024-05-02T07:35:28","slug":"molekulu-dna-zname-uz-vice-nez-70-let-uspesnost-lecby-neplodnosti-se-i-diky-genetice-neustale-zvysuje","status":"publish","type":"post","link":"https:\/\/www.phoenixcom.cz\/press\/molekulu-dna-zname-uz-vice-nez-70-let-uspesnost-lecby-neplodnosti-se-i-diky-genetice-neustale-zvysuje\/","title":{"rendered":"Molekulu DNA zn\u00e1me u\u017e v\u00edce ne\u017e 70 let. \u00dasp\u011b\u0161nost l\u00e9\u010dby neplodnosti se i d\u00edky genetice neust\u00e1le zvy\u0161uje"},"content":{"rendered":"

V roce 1953 byla publikov\u00e1na p\u0159evratn\u00e1 v\u00fdzkumn\u00e1 pr\u00e1ce, ve kter\u00e9 dva v\u011bdci \u2013 James Watson a Francis Crick \u2013 p\u0159edstavili odborn\u00e9 ve\u0159ejnosti molekul\u00e1rn\u00ed strukturu DNA. Tento objev n\u00e1sledn\u011b otev\u0159el nov\u00e9 mo\u017enosti pro zlep\u0161en\u00ed prevence, diagnostiky a l\u00e9\u010dby r\u016fzn\u00fdch onemocn\u011bn\u00ed. V 90. letech minul\u00e9ho stolet\u00ed se poznatky z genetiky za\u010daly v\u00fdrazn\u011bji aplikovat i p\u0159i asistovan\u00e9 reprodukci. S \u010d\u00edm v\u0161\u00edm dnes m\u016f\u017ee genetick\u00e9 testov\u00e1n\u00ed pomoct neplodn\u00fdm p\u00e1r\u016fm?<\/strong><\/p>\n

 <\/p>\n

Chromozom\u00e1ln\u00ed odchylky m\u00e1 v\u00edce ne\u017e polovina embry\u00ed<\/strong><\/p>\n

Nejvyu\u017e\u00edvan\u011bj\u0161\u00edm postupem zalo\u017een\u00fdm na anal\u00fdze DNA je v reproduk\u010dn\u00ed medic\u00edn\u011b preimplanta\u010dn\u00ed genetick\u00e9 testov\u00e1n\u00ed (PGT). To se zam\u011b\u0159uje na zkoum\u00e1n\u00ed chromozom\u016f embrya je\u0161t\u011b p\u0159ed jeho zaveden\u00edm do d\u011blohy matky. Odborn\u00edci toto vy\u0161et\u0159en\u00ed indikuj\u00ed ze dvou d\u016fle\u017eit\u00fdch d\u016fvod\u016f. Jedn\u00edm z nich je pot\u0159eba vylou\u010dit embrya s genetick\u00fdmi abnormalitami, kter\u00e9 by mohly m\u00edt za n\u00e1sledek ne\u00fasp\u011b\u0161nou implantaci embrya, spont\u00e1nn\u00ed potrat nebo narozen\u00ed d\u00edt\u011bte s v\u00e1\u017en\u00fdm chromozomozom\u00e1ln\u00edm onemocn\u011bn\u00edm, jako je nap\u0159\u00edklad Down\u016fv syndrom. Druh\u00fdm d\u016fvodem je pot\u0159eba identifikovat embrya s genetick\u00fdmi defekty, kter\u00e9 zp\u016fsobuj\u00ed v\u00e1\u017en\u00e9 genetick\u00e9 poruchy s fat\u00e1ln\u00edmi d\u016fsledky pro d\u00edt\u011b, nap\u0159\u00edklad svalovou dystrofi\u00ed. \u201eV\u00edce ne\u017e t\u0159i \u010dtvrtiny neplodn\u00fdch p\u00e1r\u016f podstupuj\u00ed l\u00e9\u010dbu ve v\u011bku nad 35 let a vy\u0161\u0161\u00ed v\u011bk znamen\u00e1 i zv\u00fd\u0161en\u00e9 riziko vzniku chromozom\u00e1ln\u00edch odchylek.<\/em> Ty se vyskytuj\u00ed u v\u00edce ne\u017e poloviny embry\u00ed p\u00e1r\u016f, kde je \u017eena star\u0161\u00ed t\u0159iceti let. U \u010dty\u0159ic\u00e1tnic dosahuje pod\u00edl v\u00fdskytu chromozom\u00e1ln\u00edch odchylek a\u017e p\u0159ibli\u017en\u011b 90<\/em> %,\u201c <\/em>vysv\u011btluje d\u016fvody pro preimplanta\u010dn\u00ed genetick\u00e9 testov\u00e1n\u00ed MUDr. Hana Vi\u0161\u0148ov\u00e1, vedouc\u00ed l\u00e9ka\u0159ka kliniky IVF CUBE<\/strong>.<\/p>\n

 <\/strong><\/p>\n

Nej\u010dast\u011bj\u0161\u00ed metodou je PGT-A<\/strong><\/p>\n

Metod PGT vy\u0161et\u0159en\u00ed je n\u011bkolik a odborn\u00edci na reproduk\u010dn\u00ed medic\u00ednu je vyb\u00edraj\u00ed na z\u00e1klad\u011b precizn\u00ed diagnostiky a anamn\u00e9zy p\u00e1ru. Nej\u010dast\u011bji vyu\u017e\u00edvanou metodou je v sou\u010dasnosti tzv. PGT-A testov\u00e1n\u00ed. Pom\u00e1h\u00e1 identifikovat euploidn\u00ed embrya, tj. embrya se spr\u00e1vn\u00fdm po\u010dtem chromozom\u016f, kter\u00e1 jsou vhodn\u00e1 pro embryotransfer. \u201eTato metoda zkracuje \u010das pot\u0159ebn\u00fd k ot\u011bhotn\u011bn\u00ed p\u0159i IVF a je vhodn\u00e1 zejm\u00e9na v p\u0159\u00edpad\u011b opakovan\u00fdch potrat\u016f nebo u matek ve vy\u0161\u0161\u00edm v\u011bku,\u201c <\/em>\u0159\u00edk\u00e1 MUDr. Vi\u0161\u0148ov\u00e1 a pokra\u010duje: \u201eJestli\u017ee se v rodin\u011b p\u00e1ru vyskytla u\u017e konkr\u00e9tn\u00ed genetick\u00e1 porucha, obvykle indikujeme vy\u0161et\u0159en\u00ed PGT-M, kter\u00e9 se zam\u011b\u0159uje na zji\u0161t\u011bn\u00ed tzv. monogenn\u011b podm\u00edn\u011bn\u00fdch chorob.\u201c<\/em>  T\u011bch je v sou\u010dasnosti zn\u00e1m\u00fdch v\u00edce ne\u017e 10 000 a mezi nej\u010dast\u011bj\u0161\u00ed pat\u0159\u00ed nap\u0159\u00edklad cystick\u00e1 fibr\u00f3za. \u201eU p\u00e1r\u016f, kde existuje p\u0159edpoklad p\u0159enosu chromozomov\u00e9 translokace, prov\u00e1d\u00edme genetick\u00e9 vy\u0161et\u0159en\u00ed PGT-SR, abychom identifikovali p\u0159\u00edpadn\u00e9 odchylky v uspo\u0159\u00e1d\u00e1n\u00ed chromozom\u016f. Ty toti\u017e mohou m\u00edt za n\u00e1sledek opakovan\u00e9 potraty a vznik embrya s t\u011b\u017ek\u00fdmi v\u00fdvojov\u00fdmi vadami,\u201c <\/em>dod\u00e1v\u00e1. P\u00e1r\u016fm podstupuj\u00edc\u00edm IVF terapii propl\u00e1c\u00ed genetick\u00e9 vy\u0161et\u0159en\u00ed embry\u00ed zdravotn\u00ed poji\u0161\u0165ovna, pokud je aspo\u0148 jeden z partner\u016f poji\u0161t\u011bncem \u010desk\u00e9 zdravotn\u00ed poji\u0161\u0165ovny. N\u00e1rok maj\u00ed jednou za kalend\u00e1\u0159n\u00ed rok, p\u0159i\u010dem\u017e indikaci posuzuje poji\u0161\u0165ovna v\u017edy individu\u00e1ln\u011b.<\/p>\n

 <\/strong><\/p>\n

S biopsi\u00ed i bez<\/strong><\/p>\n

PGT se obvykle skl\u00e1d\u00e1 ze 2 \u010d\u00e1st\u00ed a prov\u00e1d\u00ed se formou biopsie skupiny p\u011bti a\u017e deseti bun\u011bk v ran\u00e9m stadiu embryon\u00e1ln\u00edho v\u00fdvoje, p\u0159ibli\u017en\u011b p\u00e1t\u00fd den po oplodn\u011bn\u00ed. Slibnou budoucnost odborn\u00edci p\u0159edpov\u00eddaj\u00ed i neinvazivn\u00edm metod\u00e1m (niPGT). P\u0159i nich se nepou\u017e\u00edv\u00e1 biopsie, ale DNA se analyzuje z bun\u011bk embrya, kter\u00e9 se samovoln\u011b uvoln\u00ed do kultiva\u010dn\u00edho m\u00e9dia. P\u0159\u00edkladem je vy\u0161et\u0159en\u00ed Ranking+. \u201eRanking+ je dopl\u0148kovou metodou, kter\u00e1 ur\u010duje tzv. implanta\u010dn\u00ed potenci\u00e1l embry\u00ed. Jin\u00fdmi slovy, pom\u00e1h\u00e1 n\u00e1m s prioritizac\u00ed embry\u00ed nejvhodn\u011bj\u0161\u00edch k transferu a v \u010cesk\u00e9 republice jsme ji za\u010dali vyu\u017e\u00edvat jako jedni z prvn\u00ed. Je vhodn\u00e1 zejm\u00e9na pro pacienty, u nich\u017e existuje pravd\u011bpodobnost odb\u011bru v\u011bt\u0161\u00edho po\u010dtu kvalitn\u00edch oocyt\u016f,\u201c <\/em>vysv\u011btluje MUDr. Vi\u0161\u0148ov\u00e1.<\/p>\n

Podle slov l\u00e9ka\u0159ky spr\u00e1vn\u011b vykonan\u00e9 preimplanta\u010dn\u00ed genetick\u00e9 testov\u00e1n\u00ed (PGT) znamen\u00e1 a\u017e 95% jistotu, \u017ee embryo nem\u00e1 genetickou z\u00e1t\u011b\u017e nebo nenese nebalancovanou translokaci. \u201ePo vykon\u00e1n\u00ed preimplanta\u010dn\u00edho genetick\u00e9ho testov\u00e1n\u00ed dosahuje \u00fasp\u011b\u0161nost embryotransferu v\u00edce ne\u017e 56 %. Z\u00e1rove\u0148 t\u00edmto zp\u016fsobem sni\u017eujeme riziko spont\u00e1nn\u00edch potrat\u016f, a p\u0159edch\u00e1z\u00edme tak dal\u0161\u00ed psychick\u00e9 z\u00e1t\u011b\u017ei pro p\u00e1r i riziku zdravotn\u00edch komplikac\u00ed u \u017eeny,\u201c <\/em>dod\u00e1v\u00e1 MUDr. Vi\u0161\u0148ov\u00e1. V neposledn\u00ed \u0159ad\u011b p\u0159in\u00e1\u0161\u00ed vyu\u017eit\u00ed PGT i zkr\u00e1cen\u00ed trv\u00e1n\u00ed IVF terapie a sn\u00ed\u017een\u00ed finan\u010dn\u00edch n\u00e1klad\u016f souvisej\u00edc\u00edch s pot\u0159ebou opakovan\u00fdch cykl\u016f. Preimplanta\u010dn\u00ed testov\u00e1n\u00ed embry\u00ed je mo\u017en\u00e9 v p\u0159\u00edpad\u011b pot\u0159eby doplnit i dal\u0161\u00edmi dopl\u0148kov\u00fdmi vy\u0161et\u0159en\u00edmi. P\u0159\u00edkladem je metoda MATCH+, kter\u00e1 se vyu\u017e\u00edv\u00e1 p\u0159edev\u0161\u00edm v r\u00e1mci terapi\u00ed s darovan\u00fdmi vaj\u00ed\u010dky nebo spermiemi. Umo\u017e\u0148uje nadstandardn\u00ed vy\u0161et\u0159en\u00ed panelu 430 nej\u010dast\u011bji se vyskytuj\u00edc\u00edch genetick\u00fdch onemocn\u011bn\u00ed, a d\u00edky tomu zaji\u0161\u0165uje maxim\u00e1ln\u00ed genetickou kompatibilitu mezi d\u00e1rci a p\u0159\u00edjemci.<\/p>\n

 <\/p>\n

Do hry vstupuje i imunogenetika                                                                                 <\/strong><\/p>\n

Podle nejnov\u011bj\u0161\u00edch v\u011bdeck\u00fdch zji\u0161t\u011bn\u00ed m\u016f\u017ee o \u00fasp\u011bchu t\u011bhotenstv\u00ed rozhodnout i tzv. imunogenetika. Rozs\u00e1hl\u00e9 v\u00fdzkumn\u00e9 studie potvrzuj\u00ed, \u017ee v p\u0159\u00edpad\u011b p\u00e1r\u016f, jejich\u017e snaha o d\u00edt\u011b skon\u010dila opakovan\u00fdmi potraty, m\u016f\u017ee b\u00fdt jedn\u00edm z d\u016fvod\u016f pr\u00e1v\u011b imunologick\u00e1 nekompatibilita partner\u016f. \u201eKa\u017ed\u00fd \u010dlov\u011bk je v z\u00e1vislosti na sv\u00e9m genotypu nositelem specifick\u00e9 kombinace antigen\u016f HLA-C a z\u00e1rove\u0148 je nositelem unik\u00e1tn\u00ed sady tzv. KIR receptor\u016f, kter\u00e9 p\u0159edstavuj\u00ed jeden z kl\u00ed\u010dov\u00fdch prvk\u016f na\u0161\u00ed vrozen\u00e9 imunity. St\u00e1v\u00e1 se, \u017ee KIR receptory v d\u011bloze matky vykazuj\u00ed vysokou m\u00edru intolerance v\u016f\u010di ur\u010dit\u00fdm subtyp\u016fm antigen\u016f HLA-C. A to a\u017e do takov\u00e9 m\u00edry, \u017ee \u017eena sice ot\u011bhotn\u00ed, ale opakovan\u011b p\u0159ijde o plod,\u201c <\/em>vysv\u011btluje MUDr. Vi\u0161\u0148ov\u00e1 a dod\u00e1v\u00e1, \u017ee dal\u0161\u00edm velmi v\u00e1\u017en\u00fdm d\u016fsledkem t\u00e9to nekompatibility b\u00fdv\u00e1 i preeklampsie, kter\u00e1 m\u016f\u017ee fat\u00e1ln\u011b ohrozit v\u00fdvoj a \u017eivot plodu i samotn\u00e9 matky. Mo\u017enost prevence p\u0159edstavuje inovativn\u00ed vy\u0161et\u0159en\u00ed HLA+. Tato metoda se v zahrani\u010d\u00ed s \u00fasp\u011bchem pou\u017e\u00edv\u00e1 u\u017e n\u011bkolik let a l\u00e9ka\u0159\u016fm umo\u017e\u0148uje nastavit imunomodula\u010dn\u00ed l\u00e9\u010dbu, kter\u00e1 m\u016f\u017ee pozitivn\u011b ovlivnit kompatibilitu mezi receptory v d\u011bloze a antigeny embrya. Pom\u00e1h\u00e1 i p\u0159i terapii s darovan\u00fdmi spermiemi a vaj\u00ed\u010dky.\u201eVy\u0161et\u0159en\u00ed HLA+ umo\u017e\u0148uje vybrat d\u00e1rce nebo d\u00e1rkyni, kter\u00e1 bude z hlediska kombinace antigen\u016f HLA-C nejv\u00edc kompatibiln\u00ed s KIR receptory d\u011blohy pacientky. T\u00edm v\u00fdznamn\u011b sn\u00ed\u017e\u00edme riziko potratu a t\u011bhotensk\u00fdch komplikac\u00ed\u201c<\/em> dod\u00e1v\u00e1 MUDr. Vi\u0161\u0148ov\u00e1.<\/p>\n

St\u00e1hnout tiskovou zpr\u00e1vu<\/a> <\/em><\/span><\/p>\nngg_shortcode_0_placeholder\n","protected":false},"excerpt":{"rendered":"

V roce 1953 byla publikov\u00e1na p\u0159evratn\u00e1 v\u00fdzkumn\u00e1 pr\u00e1ce, ve kter\u00e9 dva v\u011bdci \u2013 James Watson a Francis Crick \u2013 p\u0159edstavili odborn\u00e9 ve\u0159ejnosti molekul\u00e1rn\u00ed strukturu DNA. Tento objev n\u00e1sledn\u011b otev\u0159el nov\u00e9 mo\u017enosti pro zlep\u0161en\u00ed prevence, diagnostiky a l\u00e9\u010dby r\u016fzn\u00fdch onemocn\u011bn\u00ed. V 90. letech minul\u00e9ho stolet\u00ed se poznatky z genetiky za\u010daly v\u00fdrazn\u011bji aplikovat i p\u0159i asistovan\u00e9 reprodukci. S \u010d\u00edm v\u0161\u00edm dnes […]<\/p>\n","protected":false},"author":3,"featured_media":24880,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"ngg_post_thumbnail":0},"categories":[131],"tags":[],"_links":{"self":[{"href":"https:\/\/www.phoenixcom.cz\/press\/wp-json\/wp\/v2\/posts\/24874"}],"collection":[{"href":"https:\/\/www.phoenixcom.cz\/press\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.phoenixcom.cz\/press\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.phoenixcom.cz\/press\/wp-json\/wp\/v2\/users\/3"}],"replies":[{"embeddable":true,"href":"https:\/\/www.phoenixcom.cz\/press\/wp-json\/wp\/v2\/comments?post=24874"}],"version-history":[{"count":4,"href":"https:\/\/www.phoenixcom.cz\/press\/wp-json\/wp\/v2\/posts\/24874\/revisions"}],"predecessor-version":[{"id":24884,"href":"https:\/\/www.phoenixcom.cz\/press\/wp-json\/wp\/v2\/posts\/24874\/revisions\/24884"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.phoenixcom.cz\/press\/wp-json\/wp\/v2\/media\/24880"}],"wp:attachment":[{"href":"https:\/\/www.phoenixcom.cz\/press\/wp-json\/wp\/v2\/media?parent=24874"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.phoenixcom.cz\/press\/wp-json\/wp\/v2\/categories?post=24874"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.phoenixcom.cz\/press\/wp-json\/wp\/v2\/tags?post=24874"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}