{"id":849,"date":"2020-03-14T16:26:23","date_gmt":"2020-03-14T15:26:23","guid":{"rendered":"https:\/\/fertilityport.vesmirnekure.cz\/?page_id=849"},"modified":"2020-11-12T12:03:05","modified_gmt":"2020-11-12T11:03:05","slug":"vice-informaci","status":"publish","type":"page","link":"https:\/\/fertilityport.com\/cs\/genetika\/vice-informaci\/","title":{"rendered":"V\u00edce informac\u00ed"},"content":{"rendered":"<p>[et_pb_section fb_built=&#8220;1&#8243; _builder_version=&#8220;4.4.0&#8243; background_image=&#8220;https:\/\/fertilityport.com\/wp-content\/uploads\/2020\/03\/genetika_head.jpg&#8220;][et_pb_row column_structure=&#8220;2_3,1_3&#8243; _builder_version=&#8220;4.4.0&#8243;][et_pb_column type=&#8220;2_3&#8243; _builder_version=&#8220;4.4.0&#8243;][et_pb_text module_class=&#8220;c_blurb&#8220; _builder_version=&#8220;4.4.0&#8243;]<\/p>\n<h1>Genetika<\/h1>\n<p>Zjist\u011bte v\u00edce o genetick\u00fdch diagnostick\u00fdch metod\u00e1ch<\/p>\n<p>[\/et_pb_text][\/et_pb_column][et_pb_column type=&#8220;1_3&#8243; _builder_version=&#8220;4.4.0&#8243;][\/et_pb_column][\/et_pb_row][\/et_pb_section][et_pb_section fb_built=&#8220;1&#8243; _builder_version=&#8220;4.4.0&#8243; custom_padding=&#8220;||0px||false|false&#8220;][et_pb_row _builder_version=&#8220;4.4.0&#8243;][et_pb_column type=&#8220;4_4&#8243; _builder_version=&#8220;4.4.0&#8243;][et_pb_text module_class=&#8220;c_blurb&#8220; _builder_version=&#8220;4.4.0&#8243;]<\/p>\n<h2>PGT-A (Preimplantation Genetic Testing for Aneuploidy)<\/h2>\n<p>[\/et_pb_text][et_pb_text module_class=&#8220;textv textv&#8211;rose&#8220; _builder_version=&#8220;4.6.1&#8243; animation_direction=&#8220;bottom&#8220; hover_enabled=&#8220;0&#8243; sticky_enabled=&#8220;0&#8243;]<\/p>\n<p>(d\u0159\u00edve PGS: Preimplanta\u010dn\u00ed genetick\u00fd screening) Preimplanta\u010dn\u00ed screening je genetick\u00e9 vy\u0161et\u0159en\u00ed embry\u00ed je\u0161t\u011b p\u0159ed jeho zaveden\u00edm zp\u011bt do d\u011blohy \u017eeny. Vy\u0161et\u0159en\u00ed n\u00e1m umo\u017e\u0148uje vybr\u00e1n\u00ed euploidn\u00edho embrya \u010di embry\u00ed, tedy t\u011bch s norm\u00e1ln\u00edm po\u010dtem chromozom\u016f a bez identifikovateln\u00e9 genetick\u00e9 abnormality, a t\u00edm zv\u00fd\u0161it \u0161anci na ot\u011bhotn\u011bn\u00ed \u010di sn\u00ed\u017eit riziko potratu \u010di porodu d\u00edt\u011bte s chromozom\u00e1ln\u00ed vadou. Biopsie se prov\u00e1d\u00ed na embry\u00edch 5. \u010di 6.den v\u00fdvoje, tedy na blastocyst\u00e1ch, kdy se odeb\u00edr\u00e1 skupina bun\u011bk z ka\u017ed\u00e9 blastocysty dobr\u00e9 kvality. Odeb\u00edr\u00e1 se \u010d\u00e1st, ze kter\u00e9 vznik\u00e1 placenta, to znamen\u00e1 minim\u00e1ln\u00ed riziko pro dal\u0161\u00ed v\u00fdvoj embrya. Odebran\u00fd materi\u00e1l odes\u00edl\u00e1me do genetick\u00e9 laborato\u0159e na vy\u0161et\u0159en\u00ed. Samotn\u00e1 embrya z\u016fst\u00e1vaj\u00ed u n\u00e1s v centru, ale do o\u010dek\u00e1van\u00e9ho v\u00fdsledku vy\u0161et\u0159en\u00ed by nep\u0159e\u017eila, proto je pot\u0159eba je po biopsii zamrazit. V\u00fdsledek je k dispozici za cca 3-6 t\u00fddn\u016f. V\u00fdsledky screeningu chromozom\u016f jsou zn\u00e1my v\u017edy je\u0161t\u011b p\u0159ed p\u0159enosem embrya do d\u011blohy matky.<\/p>\n<h3>Doporu\u010dili bychom PGT-A i v\u00e1m?<\/h3>\n<p>Mnoho IVF cykl\u016f m\u016f\u017ee skon\u010dit zklam\u00e1n\u00edm, proto\u017ee se nezda\u0159\u00ed uhn\u00edzd\u011bn\u00ed embrya v d\u011bloze matky. Pr\u00e1v\u011b nespr\u00e1vn\u00fd po\u010det chromozom\u016f embrya, kter\u00e9 bylo p\u0159eneseno do d\u011blohy matky, je mo\u017en\u00e1 nej\u010dast\u011bj\u0161\u00ed p\u0159\u00ed\u010dinou nezdar\u016f u cykl\u016f um\u011bl\u00e9ho oplodn\u011bn\u00ed. Stav, kdy se u embrya vyskytuj\u00ed n\u011bkter\u00e9 chromozomy nav\u00edc nebo naopak n\u011bkter\u00e9 chromozomy chyb\u00ed, naz\u00fdv\u00e1me aneuploidi\u00ed. Po zaveden\u00ed aneuploidn\u00edho embrya ve v\u011bt\u0161in\u011b p\u0159\u00edpad\u016f nedoch\u00e1z\u00ed v\u016fbec k implantaci \u2013 cca 50% v\u0161ech gravidit (negativn\u00ed t\u011bhotensk\u00fd test) \u010di t\u011bhotenstv\u00ed skon\u010d\u00ed potratem v prvn\u00edm trimestru \u2013 cca 10-15%.<\/p>\n<p>[\/et_pb_text][et_pb_text module_class=&#8220;textv textv&#8211;grey&#8220; _builder_version=&#8220;4.6.1&#8243; animation_direction=&#8220;bottom&#8220; hover_enabled=&#8220;0&#8243; sticky_enabled=&#8220;0&#8243;]<\/p>\n<h3>Preimplanta\u010dn\u00ed screening je vhodn\u00fd pro p\u00e1ry, kter\u00e9 spl\u0148uj\u00ed n\u00e1sleduj\u00edc\u00ed indikace:<\/h3>\n<ul>\n<li>vy\u0161\u0161\u00ed v\u011bk \u017eeny \u2013 se zvy\u0161uj\u00edc\u00edm se v\u011bkem \u017eeny roste t\u00e9\u017e riziko aneuploidie u embry\u00ed z d\u016fvodu sni\u017euj\u00edc\u00ed se kvality vaj\u00ed\u010dek. Je prok\u00e1z\u00e1no, \u017ee toto je hlavn\u00edm d\u016fvodem, pro\u010d u \u017een po 33.-35. roce v\u011bku doch\u00e1z\u00ed k prudk\u00e9mu poklesu plodnosti. Nekles\u00e1 tedy jen po\u010det vaj\u00ed\u010dek, ale i jejich kvalita.<\/li>\n<li>opakovan\u00e9 potr\u00e1cen\u00ed po vylou\u010den\u00ed ostatn\u00edch mo\u017en\u00fdch p\u0159\u00ed\u010din<\/li>\n<li>opakovan\u00e9 ne\u00fasp\u011bchy p\u0159edchoz\u00edch cykl\u016f asistovan\u00e9 reprodukce<\/li>\n<li>potrat nebo porod plodu s v\u00fdvojovou vadou (chromozom\u00e1ln\u00ed abnormitou)<\/li>\n<li>po\u010detn\u00ed gonosomov\u00e9 aberace (nap\u0159.47XXX, 47XYY) a mal\u00e9 gonosomov\u00e9 mozaiky detekovan\u00e9 z perifern\u00ed krve (nad 10%)<\/li>\n<li>mu\u017esk\u00fd (andrologick\u00fd) faktor (nap\u0159. te\u017ek\u00e1 oligoastenoteratozoospermie) nebo pou\u017eit\u00ed spermi\u00ed z\u00edskan\u00fdch metodou MESA\/TESE\/PESA\/TESA<\/li>\n<li>stavy po l\u00e9\u010db\u011b onkologick\u00fdch onemocn\u011bn\u00ed pomoc\u00ed chemoterapie, radioterapie u jednoho \u010di obou partner\u016f<\/li>\n<\/ul>\n<p>[\/et_pb_text][et_pb_text module_class=&#8220;textv textv&#8211;rose&#8220; _builder_version=&#8220;4.6.1&#8243; animation_direction=&#8220;bottom&#8220; hover_enabled=&#8220;0&#8243; sticky_enabled=&#8220;0&#8243;]<\/p>\n<h2>\u00da\u010del PGT-A<\/h2>\n<p>Smyslem PGT-A je zv\u00fd\u0161it \u0161anci na narozen\u00ed zdrav\u00e9ho d\u00edt\u011bte a zv\u00fd\u0161it \u00fasp\u011b\u0161nost IVF cyklu. P\u0159i b\u011b\u017en\u00e9m IVF cyklu bez za\u0159azen\u00ed preimplanta\u010dn\u00edho vy\u0161et\u0159en\u00ed se embrya k transferu vyb\u00edraj\u00ed na z\u00e1klad\u011b morfologick\u00fdch krit\u00e9ri\u00ed, p\u0159\u00edpadn\u011b dle dynamiky v\u00fdvoje. Bohu\u017eel tato krit\u00e9ria nejsou pravd\u011bpodobn\u011b dosta\u010duj\u00edc\u00ed pro to, abychom mohli spolehliv\u011b vylou\u010dit embryo s genetickou abnormitou.<\/p>\n<p>V n\u011bkter\u00fdch p\u0159\u00edpadech se p\u00e1ry s poruchou plodnosti br\u00e1n\u00ed screeningu chromozom\u016f z d\u016fvodu obavy ohledn\u011b procesu mrazen\u00ed, vlastn\u00ed biopsie nebo ve spojen\u00ed s odkladem pl\u00e1nu transferu a t\u00edm posunut\u00ed jejich vytou\u017een\u00e9ho c\u00edle \u2013 zdrav\u00e9ho miminka. Tyto obavy v\u0161ak nejsou zcela opodstatn\u011bn\u00e9. Biopsie a zamrazen\u00ed je proces, ke kter\u00e9mu se vyb\u00edraj\u00ed pouze embrya v\u00fdborn\u00e9 kvality a tedy p\u0159edstavuje pro tato embrya minim\u00e1ln\u00ed z\u00e1t\u011b\u017e. \u00dasp\u011b\u0161nost \u201e\u010derstv\u00fdch\u201c transfer\u016f blastocyst optim\u00e1ln\u00ed kvality je srovnateln\u00e1 s transferem embry\u00ed po mrazen\u00ed. Odlo\u017een\u00ed transferu o p\u00e1r m\u011bs\u00edc\u016f (1-3) tedy v tomto p\u0159\u00edpad\u011b p\u0159edstavuje v\u011bt\u0161\u00ed \u0161anci na \u00fasp\u011bch \u2013 porod zdrav\u00e9ho miminka.<\/p>\n<p>Je to zejm\u00e9na t\u00edm, \u017ee sn\u00ed\u017e\u00edme riziko negativn\u00edho t\u011bhotensk\u00e9ho testu, spont\u00e1nn\u00edho potratu \u010di zamlkl\u00e9ho t\u011bhotenstv\u00ed v I.trimestru. Pokud je nutn\u00e1 instrument\u00e1ln\u00ed revize dutiny d\u011blo\u017en\u00ed po potratu plodu, doporu\u010duje se p\u0159ed dal\u0161\u00edm embryotransferem vy\u010dkat minim\u00e1ln\u011b 6-12 t\u00fddn\u016f.<\/p>\n<p>[\/et_pb_text][et_pb_text module_class=&#8220;textv textv&#8211;grey&#8220; _builder_version=&#8220;4.6.1&#8243; animation_direction=&#8220;bottom&#8220; hover_enabled=&#8220;0&#8243; sticky_enabled=&#8220;0&#8243;]<\/p>\n<h3>Dal\u0161\u00ed mo\u017en\u00e9 v\u00fdhody PGT-A:<\/h3>\n<ul>\n<li>Sn\u00ed\u017een\u00ed rizika komplikac\u00ed v t\u011bhotenstv\u00ed, sn\u00ed\u017een\u00ed po\u010dtu v\u00edce\u010detn\u00fdch gravidit \u2013 po preimplanta\u010dn\u00edm screeningu v\u011bt\u0161inou doporu\u010dujeme transfer pouze jednoho embrya.<\/li>\n<li>Zkr\u00e1cen\u00ed doby l\u00e9\u010dby a zredukov\u00e1n\u00ed finan\u010dn\u00edch n\u00e1klad\u016f spojen\u00fdch s narozen\u00edm zdrav\u00e9ho d\u00edt\u011bte prost\u0159ednictv\u00edm sn\u00ed\u017een\u00ed po\u010dtu opakovan\u00fdch cykl\u016f.<\/li>\n<li>Na z\u00e1klad\u011b v\u00fdsledk\u016f genetick\u00e9ho testov\u00e1n\u00ed embry\u00ed se m\u016f\u017ee p\u00e1r rozhodnout pro opakov\u00e1n\u00ed IVF cyklu s vlastn\u00edmi vaj\u00ed\u010dky \u010di p\u0159i \u0161patn\u00e9m v\u00fdsledku po\u017e\u00e1dat o cyklus s darovan\u00fdmi vaj\u00ed\u010dky\/spermiemi.<\/li>\n<li>P\u00e1ry s hor\u0161\u00ed progn\u00f3zou \u00fasp\u011bchu IVF cyklu tak mohou pou\u017eit\u00edm PGT-A svoji progn\u00f3zu v\u00fdrazn\u011b zv\u00fd\u0161it a dos\u00e1hnout stejn\u011b dobr\u00fdch v\u00fdsledk\u016f jako p\u00e1ry ze skupiny s dobrou progn\u00f3zou, co\u017e p\u0159edstavuje \u00fasp\u011b\u0161nost nad 40 % t\u011bhotenstv\u00ed na transfer i p\u0159i transferu jednoho embrya.<\/li>\n<\/ul>\n<p>[\/et_pb_text][et_pb_text module_class=&#8220;textv textv&#8211;rose&#8220; _builder_version=&#8220;4.6.1&#8243; animation_direction=&#8220;bottom&#8220; hover_enabled=&#8220;0&#8243; sticky_enabled=&#8220;0&#8243;]<\/p>\n<h3>Pr\u016fb\u011bh a metoda vy\u0161et\u0159en\u00ed:<\/h3>\n<p>V sou\u010dasnosti je trendem vy\u0161et\u0159ov\u00e1n\u00ed materi\u00e1lu vy\u0161\u0161\u00edho st\u00e1dia v\u00fdvoje embrya (co\u017e p\u0159in\u00e1\u0161\u00ed komplexn\u011bj\u0161\u00ed informaci o vy\u0161et\u0159ovan\u00e9m embryu). Biopsi\u00ed se z\u00edsk\u00e1v\u00e1 skupina cca 10-20 bun\u011bk v den 5 nebo den 6 v\u00fdvoje embrya \u2013 tedy bioptuj\u00ed se tzv. blastocysty. Tento postup umo\u017e\u0148uje posoudit kompletn\u00ed genom budouc\u00edho plodu (mate\u0159sk\u00fd i otcovsk\u00fd odd\u00edl), bohu\u017eel nen\u00ed technicky mo\u017en\u00fd embryotransfer \u201e\u010derstv\u00e9ho\u201c embrya. Biopsie nem\u00e1 \u017e\u00e1dn\u00fd negativn\u00ed vliv na schopnosti embrya zahn\u00edzdit se v d\u011bloze. Jeliko\u017e se odeb\u00edraj\u00ed v\u017edy bu\u0148ky, kter\u00e9 jsou dosud nediferencovan\u00e9, nedoch\u00e1z\u00ed jejich odb\u011brem k \u017e\u00e1dn\u00fdm n\u00e1sledk\u016fm v podob\u011b po\u0161kozen\u00ed plodu. Biopsie nem\u00e1 vliv ani na genetickou v\u00fdbavu plodu.<\/p>\n<p>Va\u0161e embrya (blastocysty) budou vy\u0161et\u0159ena metodou NGS (next generation sequencing), kter\u00e1 umo\u017en\u0148uje vy\u0161et\u0159en\u00ed cel\u00e9ho spektra chromozom\u016f, tedy 23 p\u00e1r\u016f. NGS m\u00e1 oproti star\u0161\u00ed metod\u011b aCGH (array-CGH) v\u011bt\u0161\u00ed citlivost a je schopna odhalit i embrya s mozaikou.<\/p>\n<h3>Mo\u017enost kumulace embry\u00ed p\u0159ed genetick\u00fdm testov\u00e1n\u00ed<\/h3>\n<p>Z obecn\u00e9ho hlediska je zapot\u0159eb\u00ed z\u00edskat dostate\u010dn\u00fd po\u010det kvalitn\u00edch embry\u00ed. Mus\u00edme toti\u017e po\u010d\u00edtat s t\u00edm, \u017ee ur\u010dit\u00e1 \u010d\u00e1st embry\u00ed z morfologick\u00e9ho hlediska nebude v den 5 \u010di v den 6 v\u00fdvoje vhodn\u00e1 k biopsii a \u010d\u00e1st bioptovan\u00fdch bude n\u00e1sledn\u011b vy\u0159azena pr\u00e1v\u011b pro pozitivn\u00ed z\u00e1chyt vady v po\u010dtu nebo kvalit\u011b chromozom\u016f. Pokud v jednom cyklu nez\u00edsk\u00e1me dostate\u010dn\u00e9 mno\u017estv\u00ed vaj\u00ed\u010dek\/embry\u00ed po fertilizaci, aby byla dobr\u00e1 \u0161ance na nalezen\u00ed zdrav\u00e9ho embrya, lze v\u0161echna embrya zamrazit a s odstupem prov\u00e9st dal\u0161\u00ed stimulaci, odb\u011br vaj\u00ed\u010dek a jejich oplozen\u00ed. K vy\u0161et\u0159en\u00ed se pak slou\u010d\u00ed dohromady embrya z obou \u010di v\u00edce cykl\u016f. Tento postup naz\u00fdv\u00e1me tzv. kumulac\u00ed. Takto lze zajistit vy\u0161\u0161\u00ed pravd\u011bpodobnost n\u00e1lezu zdrav\u00e9ho embrya a zamezit zbyte\u010dn\u00fdm investic\u00edm p\u00e1ru.<\/p>\n<p>[\/et_pb_text][\/et_pb_column][\/et_pb_row][\/et_pb_section][et_pb_section fb_built=&#8220;1&#8243; module_id=&#8220;pgtm&#8220; _builder_version=&#8220;4.4.0&#8243; custom_padding=&#8220;||||false|false&#8220;][et_pb_row _builder_version=&#8220;4.4.0&#8243;][et_pb_column type=&#8220;4_4&#8243; _builder_version=&#8220;4.4.0&#8243;][et_pb_text module_class=&#8220;c_blurb&#8220; _builder_version=&#8220;4.4.0&#8243;]<\/p>\n<h2>PGT-M (Preimplantation Genetic Testing for Monogenic\/Single Gene Diseases)<\/h2>\n<p>[\/et_pb_text][et_pb_text module_class=&#8220;textv textv&#8211;rose&#8220; _builder_version=&#8220;4.6.1&#8243; animation_direction=&#8220;bottom&#8220; hover_enabled=&#8220;0&#8243; sticky_enabled=&#8220;0&#8243;]<\/p>\n<p>(d\u0159\u00edve PGD: preimplantation genetic diagnosis) Preimplanta\u010dn\u00ed genetick\u00e1 diagnostika je tedy metoda, kter\u00e1 umo\u017e\u0148uje v\u00fdb\u011br tzv. \u201ezdrav\u00e9ho\u201c embrya bez konkr\u00e9tn\u00ed genetick\u00e9 z\u00e1t\u011b\u017ee. Hlavn\u00ed p\u0159ednost\u00ed takov\u00e9ho postupu je vylou\u010den\u00ed rizika, \u017ee plod ponese sledovanou genetickou z\u00e1t\u011b\u017e. P\u00e1r proto nemus\u00ed \u0159e\u0161it p\u0159\u00edpadn\u00e1 \u00faskal\u00ed spojen\u00e1 s um\u011bl\u00fdm p\u0159eru\u0161en\u00edm t\u011bhotenstv\u00ed. Princip a postup z pohledu p\u00e1ru je obdobn\u00fd metod\u011b PGT-A.<\/p>\n<p>[\/et_pb_text][et_pb_text module_class=&#8220;textv textv&#8211;grey&#8220; _builder_version=&#8220;4.6.1&#8243; animation_direction=&#8220;bottom&#8220; hover_enabled=&#8220;0&#8243; sticky_enabled=&#8220;0&#8243;]<\/p>\n<h3>Monogenn\u00ed onemocn\u011bn\u00ed<\/h3>\n<p>Ve v\u011bdeck\u00fdch datab\u00e1z\u00edch existuje zm\u00ednka o v\u00edce ne\u017e 5 000 vz\u00e1cn\u00fdch d\u011bdi\u010dn\u00fdch onemocn\u011bn\u00ed, kter\u00e1 jsou potenci\u00e1ln\u011b zjistiteln\u00e1 pomoc\u00ed preimplanta\u010dn\u00ed diagnostiky. Monogenn\u011b d\u011bdi\u010dn\u00e9 choroby jsou zp\u016fsobeny nefunk\u010dnost\u00ed nebo zm\u011bn\u011bnou funkc\u00ed jednoho z na\u0161ich gen\u016f.<\/p>\n<p>M\u00e1me-li jednodu\u0161e popsat vz\u00e1cn\u00e1 onemocn\u011bn\u00ed podle typu d\u011bdi\u010dnosti, m\u016f\u017eeme je rozd\u011blit do t\u0159\u00ed z\u00e1kladn\u00edch skupin:<\/p>\n<ul>\n<li>s d\u011bdi\u010dnost\u00ed recesivn\u00ed<\/li>\n<li>s d\u011bdi\u010dnost\u00ed dominantn\u00ed<\/li>\n<li>s d\u011bdi\u010dnost\u00ed v\u00e1zanou na pohlavn\u00ed chromozom<\/li>\n<\/ul>\n<p>Pro jednotliv\u00e9 skupiny plat\u00ed r\u016fzn\u00e9 riziko p\u0159enosu onemocn\u011bn\u00ed na potomka a tak\u00e9 r\u016fzn\u00e9 n\u00e1roky na v\u00fdb\u011br embrya vhodn\u00e9ho k transferu.<\/p>\n<p>K nej\u010dast\u011bj\u0161\u00edm vz\u00e1cn\u00fdm onemocn\u011bn\u00edm v na\u0161em p\u00e1smu pat\u0159\u00ed:<\/p>\n<p><span style=\"font-size: 16px;\">\u00a0<\/span><\/p>\n<ul>\n<li>cystick\u00e1 fibr\u00f3za<\/li>\n<li>spin\u00e1ln\u00ed muskul\u00e1rn\u00ed atrofie<\/li>\n<li>metabolick\u00e9 poruchy<\/li>\n<li>neurofibromat\u00f3za<\/li>\n<li>Marfan\u016fv syndrom<\/li>\n<li>Huntingtonova chorea<\/li>\n<li>famili\u00e1rn\u00ed hypercholesterol\u00e9mie<\/li>\n<li>syndrom fragiln\u00edho X<\/li>\n<li>syndrom svalov\u00e9 dystrofie<\/li>\n<li>D\u00e1le d\u011bdi\u010dn\u00e9 dispozice k n\u00e1dorov\u00fdm onemocn\u011bn\u00edm nap\u0159. BRCA1 a BRCA2.<\/li>\n<\/ul>\n<p>[\/et_pb_text][et_pb_text module_class=&#8220;textv textv&#8211;rose&#8220; _builder_version=&#8220;4.6.1&#8243; animation_direction=&#8220;bottom&#8220; hover_enabled=&#8220;0&#8243; sticky_enabled=&#8220;0&#8243;]<\/p>\n<p>Nej\u010dast\u011bji se partne\u0159i dozv\u011bd\u00ed o genetick\u00e9 z\u00e1t\u011b\u017ei v rodin\u011b bohu\u017eel tak, \u017ee po\u010dnou d\u00edt\u011b, u kter\u00e9ho se prok\u00e1\u017ee z\u00e1va\u017en\u00e9 onemocn\u011bn\u00ed d\u011bdi\u010dn\u00e9ho charakteru. V lep\u0161\u00edm p\u0159\u00edpad\u011b se m\u016f\u017ee jeden nebo oba partne\u0159i dozv\u011bd\u011bt o sv\u00e9 z\u00e1t\u011b\u017ei p\u0159edem \u2013 to tehdy, kdy\u017e je genetick\u00e9 vy\u0161et\u0159en\u00ed provedeno preventivn\u011b, p\u0159i zji\u0161t\u011bn\u00ed onemocn\u011bn\u00ed jin\u00e9ho \u010dlena rodiny, p\u0159\u00edpadn\u011b z tzv. prediktivn\u00edho panelu apod. PGT-M p\u0159edstavuje pro rodiny s genetickou z\u00e1t\u011b\u017e\u00ed jedinou spolehlivou metodu k vylou\u010den\u00ed p\u0159enosu z\u00e1va\u017en\u00fdch vad a d\u011bdi\u010dn\u00fdch chorob na potomky. Pokud se uk\u00e1\u017ee, \u017ee partne\u0159i jsou vhodn\u00fdmi adepty k proveden\u00ed IVF cyklu s preimplanta\u010dn\u00edm vy\u0161et\u0159en\u00edm embry\u00ed, prob\u011bhne konzultace u klinick\u00e9ho genetika, kter\u00fd se specializuje pr\u00e1v\u011b na problematiku preimplanta\u010dn\u00ed diagnostiky.<\/p>\n<p>Odebran\u00e9 bu\u0148ky DNA potom slou\u017e\u00ed k ur\u010den\u00ed genov\u00e9 sestavy embrya. Jsme tedy schopni \u0159\u00edct, s jistotou bl\u00ed\u017e\u00edc\u00ed se 100%, \u017ee testovan\u00e9 embryo je bu\u010f zdrav\u00e9, nebo je p\u0159ena\u0161e\u010dem choroby, anebo nese genetickou z\u00e1t\u011b\u017e spojenou s budouc\u00edm rozvojem onemocn\u011bn\u00ed.<\/p>\n<p>Embryo, kter\u00e9 projde t\u00edmto testov\u00e1n\u00edm a je vyhodnoceno jako geneticky vhodn\u00e9, se n\u00e1sledn\u011b p\u0159en\u00e1\u0161\u00ed do d\u011blohy matky. Pokud m\u00e1 p\u00e1r v\u00edce embry\u00ed vhodn\u00fdch k transferu, takov\u00e1 mohou b\u00fdt vyu\u017eita p\u0159i opakovan\u00e9m transferu, nebo v budoucnu, bude-li p\u00e1r cht\u00edt dal\u0161\u00ed d\u00edt\u011b.<\/p>\n<h3>Translokace<\/h3>\n<p>Preimplanta\u010dn\u00ed genetick\u00e1 diagnostika translokac\u00ed (\u010di jin\u00fdch struktur\u00e1ln\u00edch poruch chromoz\u00f3m\u016f) je vhodn\u00e1 pro p\u00e1ry, kde je u jednoho \u010di obou partner\u016f prok\u00e1z\u00e1no nosi\u010dstv\u00ed balancovan\u00e9 translokace, \u010di jin\u00e9 strukturn\u00ed p\u0159estavby chromosom\u016f. Translokace p\u0159edstavuj\u00ed nej\u010dast\u011bj\u0161\u00ed strukturn\u00ed abnormality chromozom\u016f, kter\u00e9 se vyskytuj\u00ed s frekvenc\u00ed cca 1:625. U jedinc\u016f, kte\u0159\u00ed jsou nosi\u010di balancovan\u00e9 translokace, se nemus\u00ed projevit \u017e\u00e1dn\u00e9 zn\u00e1mky v\u00fdvojov\u00fdch vad ani jin\u00fdch posti\u017een\u00ed \u010di onemocn\u011bn\u00ed. Probl\u00e9m ale nast\u00e1v\u00e1 v p\u0159\u00edpad\u011b reprodukce, kdy mohou vznikat spermie nebo vaj\u00ed\u010dka, kter\u00e1 neobsahuj\u00ed spr\u00e1vn\u00e9 mno\u017estv\u00ed genetick\u00e9ho materi\u00e1lu, tj. ur\u010dit\u00e1 \u010d\u00e1st chyb\u00ed nebo p\u0159eb\u00fdv\u00e1.<\/p>\n<p>Pokud se takov\u00e9 spermie a vaj\u00ed\u010dka \u00fa\u010dastn\u00ed oplozen\u00ed, vznikne geneticky abnorm\u00e1ln\u00ed jedinec s mnoho\u010detn\u00fdmi v\u00fdvojov\u00fdmi vadami a t\u011b\u017ek\u00fdmi org\u00e1nov\u00fdmi posti\u017een\u00edmi. V drtiv\u00e9 v\u011bt\u0161in\u011b p\u0159\u00edpad\u016f je v\u0161ak plod bu\u010f samovoln\u011b potracen anebo je v\u00fdvojov\u00e1 vada odhalena v r\u00e1mci prenat\u00e1ln\u00ed diagnostiky. V\u00fdjime\u010dn\u011b dojde k porodu takto posti\u017een\u00e9ho d\u00edt\u011bte. Riziko vzniku tzv.nebalancovan\u00e9ho embrya je 5% pokud je p\u0159ena\u0161e\u010dem balancovan\u00e9 translokace mu\u017e a 12% pokud \u017eena.<\/p>\n<p>Translokace m\u016f\u017ee b\u00fdt \u010dastou p\u0159\u00ed\u010dinou potrat\u016f. P\u00e1ry, ve kter\u00fdch partnerka opakovan\u011b potr\u00e1c\u00ed, by si m\u011bly nechat vy\u0161et\u0159it karyotyp. Toto vy\u0161et\u0159en\u00ed umo\u017en\u00ed stanovit po\u010det chromozom\u016f a ur\u010dit p\u0159\u00edtomnost pr\u00e1v\u011b chromosomov\u00e9 translokace.<\/p>\n<h3>Karyomapping<\/h3>\n<p>Karyomapping je nov\u00e1 technologie genetick\u00e9 anal\u00fdzy embrya, d\u00edky kter\u00e9 je mo\u017en\u00e9 zabr\u00e1nit p\u0159enosu genetick\u00e9 z\u00e1t\u011b\u017ee na dal\u0161\u00ed generaci. To plat\u00ed jak pro p\u00e1ry, kde jsou oba partne\u0159i p\u0159ena\u0161e\u010di dan\u00e9ho onemocn\u011bn\u00ed, tak i u osob, je\u017e samy trp\u00ed n\u011bjak\u00fdm d\u011bdi\u010dn\u00fdm onemocn\u011bn\u00edm.<\/p>\n<p>Nejprve je nutn\u00e9 z\u00edskat vzorek krve budouc\u00edho otce, matky a jednoho bl\u00edzk\u00e9ho p\u0159\u00edbuzn\u00e9ho, o kter\u00e9m v\u00edme, zda onemocn\u011bn\u00edm trp\u00ed, nebo je naopak zdr\u00e1v (vzhledem ke sledovan\u00e9mu onemocn\u011bn\u00ed). Ve v\u011bt\u0161in\u011b p\u0159\u00edpad\u016f je t\u00edmto p\u0159\u00edbuzn\u00fdm posti\u017een\u00e9 d\u00edt\u011b dan\u00e9ho p\u00e1ru. Vzorek krve tohoto p\u0159\u00edbuzn\u00e9ho se ozna\u010duje, jako tzv. \u201ereferen\u010dn\u00ed vzorek\u201c.<\/p>\n<p>Pomoc\u00ed Karyomappingu je mo\u017en\u00e9 vy\u0161et\u0159it chromozomy, \u00fatvary tvo\u0159en\u00e9 na\u0161\u00ed DNA a proteiny, je\u017e obsahuj\u00ed geny a jsou ulo\u017eeny v lidsk\u00fdch bu\u0148k\u00e1ch. Metodou Karyomapping se vy\u0161et\u0159\u00ed chromozomy matky, otce i referen\u010dn\u00edho vzorku na zhruba 300 tis\u00edc\u00edch r\u016fzn\u00fdch m\u00edstech. T\u00edm se spolehliv\u011b stanov\u00ed tzv. \u201eDNA profil\u201c chromozomu s mutovan\u00fdm genem. N\u00e1sledn\u011b se vy\u0161et\u0159\u00ed v\u0161echna embrya tak, aby bylo mo\u017en\u00e9 spolehliv\u011b vylou\u010dit ta, kter\u00e1 obsahuj\u00ed mutovan\u00fd gen.<\/p>\n<p>Pokud DNA profil spojen\u00fd s mutovan\u00fdm genem p\u0159\u00edtomn\u00fd nen\u00ed, d\u00e1 se \u0159\u00edci, \u017ee embrya zd\u011bdila norm\u00e1ln\u00ed kopie genu bez mutace a m\u011bla by b\u00fdt z pohledu dan\u00e9ho onemocn\u011bn\u00ed zdrav\u00e1. Takov\u00e1 embrya jsou vhodn\u00e1 pro transfer do d\u011blohy matky.<\/p>\n<div class=\"flex_column av_one_full  av-animated-generic bottom-to-top  flex_column_div first  avia-builder-el-31  el_after_av_one_full  el_before_av_one_full  column-top-margin avia_start_animation avia_start_delayed_animation\">\n<section class=\"av_textblock_section \">\n<div class=\"avia_textblock  av_inherit_color \"><\/div>\n<\/section>\n<\/div>\n<div class=\"flex_column av_one_full  av-animated-generic bottom-to-top  flex_column_div first  avia-builder-el-35  el_after_av_one_full  avia-builder-el-last  column-top-margin avia_start_animation avia_start_delayed_animation\">\n<section class=\"av_textblock_section \">\n<div class=\"avia_textblock  \"><\/div>\n<\/section>\n<\/div>\n<section class=\"av_textblock_section \">\n<div class=\"avia_textblock  av_inherit_color \"><\/div>\n<\/section>\n<p>[\/et_pb_text][et_pb_text module_class=&#8220;textv textv&#8211;grey&#8220; _builder_version=&#8220;4.6.1&#8243; animation_direction=&#8220;bottom&#8220; hover_enabled=&#8220;0&#8243; sticky_enabled=&#8220;0&#8243;]<\/p>\n<h3>Jak se Karyomapping li\u0161\u00ed od ostatn\u00edch metod pou\u017e\u00edvan\u00fdch p\u0159i PGD d\u011bdi\u010dn\u00fdch onemocn\u011bn\u00ed?<\/h3>\n<ul>\n<li><strong>Zjednodu\u0161en\u00ed a rychlost<\/strong><br \/>Krom\u011b DNA partner\u016f nen\u00ed t\u0159eba \u017e\u00e1dat DNA od dal\u0161\u00edch rodinn\u00fdch p\u0159\u00edslu\u0161n\u00edk\u016f. Sta\u010d\u00ed pouze vzorek DNA od jednoho posti\u017een\u00e9ho \u010dlena v rodin\u011b (d\u00edt\u011b, p\u0159\u00edpadn\u011b jin\u00fd p\u0159\u00edbuzn\u00fd) a v n\u011bkter\u00fdch p\u0159\u00edpadech posta\u010d\u00ed pouze DNA od obou partner\u016f.<\/li>\n<li><strong>\u0158e\u0161en\u00ed i pro d\u011bdi\u010dn\u00e1 n\u00e1dorov\u00e1 onemocn\u011bn\u00ed<\/strong><br \/>Tato metoda je vhodn\u00e1 nejen pro v\u0161echny monogenn\u00ed choroby, ale tak\u00e9 pro v\u0161echna d\u011bdi\u010dn\u00e1 n\u00e1dorov\u00e1 onemocn\u011bn\u00ed, jako jsou nap\u0159\u00edklad mutace v BRCA1 a BRCA2 genech.<\/li>\n<li><strong>Dva v jednom<\/strong><br \/>V r\u00e1mci vy\u0161et\u0159en\u00ed s pomoc\u00ed karyomappingu je automaticky ze stejn\u00e9ho vzorku proveden tak\u00e9 screening aneuploidi\u00ed v\u0161ech chromozom\u016f (PGS), co\u017e v\u00e1m p\u0159inese v\u0161echny v\u00fdhody spojen\u00e9 s t\u00edmto vy\u0161et\u0159en\u00edm. K transferu jsou pak vybr\u00e1na jen embrya zdrav\u00e1 a se spr\u00e1vn\u00fdm po\u010dtem chromozom\u016f, co\u017e zv\u00fd\u0161\u00ed \u0161anci na ot\u011bhotn\u011bn\u00ed a z\u00e1rove\u0148 vylou\u010d\u00ed po\u010det\u00ed d\u00edt\u011bte s jin\u00fdmi v\u00fdvojov\u00fdmi vadami zp\u016fsoben\u00fdmi pr\u00e1v\u011b nespr\u00e1vn\u00fdm po\u010dtem chromozom\u016f (Down\u016fv syndrom, Edwards\u016fv syndrom\u2026).<\/li>\n<\/ul>\n<p>Preimplanta\u010dn\u00ed genetick\u00e1 diagnostika nem\u016f\u017ee zaru\u010dit narozen\u00ed absolutn\u011b zdrav\u00e9ho d\u00edt\u011bte, m\u016f\u017ee v\u0161ak s jistotou vylou\u010dit p\u0159enesen\u00ed konkr\u00e9tn\u00ed genetick\u00e9 z\u00e1t\u011b\u017ee na dal\u0161\u00ed generaci. Transfer \u201ezdrav\u00e9ho\u201c embrya po genetick\u00e9 preimplanta\u010dn\u00ed diagnostice nebo screeningu neznamen\u00e1, \u017ee V\u00e1m nebude doporu\u010den prenat\u00e1ln\u00ed screening v I. a II.trimestru t\u011bhotenstv\u00ed.<\/p>\n<p>[\/et_pb_text][\/et_pb_column][\/et_pb_row][\/et_pb_section]<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Genetika Zjist\u011bte v\u00edce o genetick\u00fdch diagnostick\u00fdch metod\u00e1chPGT-A (Preimplantation Genetic Testing for Aneuploidy) (d\u0159\u00edve PGS: Preimplanta\u010dn\u00ed genetick\u00fd screening) Preimplanta\u010dn\u00ed screening je genetick\u00e9 vy\u0161et\u0159en\u00ed embry\u00ed je\u0161t\u011b p\u0159ed jeho zaveden\u00edm zp\u011bt do d\u011blohy \u017eeny. Vy\u0161et\u0159en\u00ed n\u00e1m umo\u017e\u0148uje vybr\u00e1n\u00ed euploidn\u00edho embrya \u010di embry\u00ed, tedy t\u011bch s norm\u00e1ln\u00edm po\u010dtem chromozom\u016f a bez identifikovateln\u00e9 genetick\u00e9 abnormality, a t\u00edm zv\u00fd\u0161it \u0161anci na [&hellip;]<\/p>\n","protected":false},"author":2,"featured_media":0,"parent":843,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"_et_pb_use_builder":"on","_et_pb_old_content":"<p>[et_pb_section fb_built=\"1\" _builder_version=\"4.4.0\" background_image=\"https:\/\/fertilityport.com\/wp-content\/uploads\/2020\/03\/genetika_head.jpg\"][et_pb_row column_structure=\"2_3,1_3\" _builder_version=\"4.4.0\"][et_pb_column type=\"2_3\" _builder_version=\"4.4.0\"][et_pb_text module_class=\"c_blurb\" _builder_version=\"4.4.0\"]<\/p><h1>Genetics<\/h1><p>Find out more about genetic diagnostic methods[\/et_pb_text][\/et_pb_column][et_pb_column type=\"1_3\" _builder_version=\"4.4.0\"][\/et_pb_column][\/et_pb_row][\/et_pb_section][et_pb_section fb_built=\"1\" _builder_version=\"4.4.0\" hover_enabled=\"0\" custom_padding=\"||0px||false|false\"][et_pb_row _builder_version=\"4.4.0\"][et_pb_column type=\"4_4\" _builder_version=\"4.4.0\"][et_pb_text module_class=\"c_blurb\" _builder_version=\"4.4.0\"]<\/p><h2>PGT-A (Preimplantation Genetic Testing for Aneuploidy)<\/h2><p>[\/et_pb_text][et_pb_text module_class=\"textv textv--rose\" _builder_version=\"4.4.0\" animation_style=\"slide\" animation_direction=\"bottom\" animation_intensity_slide=\"10%\"]<\/p><p>(earlier known as PGS: Preimplantation Genetic Screening)<br \/>Preimplantation screening is a genetic examination of embryos before their reintroduction into the woman\u2019s uterus. The examination allows us to choose the euploid embryo or embryos, or those with a standard number of chromosomes and without any identified genetic abnormality, and therefore increase the chance of pregnancy or limit the risk of miscarriage or the birth of a child with a chromosome defect. Biopsy is performed on day 5 or 6 of their development, which means on the blastocysts, when a group of cells from each good quality blastocyst is sampled. Only the part from which placenta is made is sampled, which means minimum risk for the further development of the embryo. The sampled material is sent to a genetic laboratory for examination. The embryos themselves stay in our centre, but because they would not survive until the expected result of the examination it is necessary to freeze them after the biopsy. The result is produced in approx. 3-6 weeks. The results of chromosome screening are always known before the transfer of the embryo to the mother\u2019s womb.<\/p><h3>Can we recommend PGT-A to you as well?<\/h3><p>Many IVF cycles may end in disappointment because the embryo may fail to nest successfully within the mother\u2019s body. It is the incorrect number of chromosomes in an embryo that has been transferred to the mother\u2019s womb that constitutes potentially the most common cause of artificial fertilisation. When the embryo exhibits excess chromosomes or lacks others it is called aneuploidy. After introducing the aneuploid embryo the implant mostly never occurs \u2013 approx. 50% of all gravidities (negative pregnancy test) or pregnancies end with a miscarriage during the first trimester \u2013 approx. 10-15%.<\/p><p>[\/et_pb_text][et_pb_text module_class=\"textv textv--grey\" _builder_version=\"4.4.0\" animation_style=\"slide\" animation_direction=\"bottom\" animation_intensity_slide=\"10%\"]<\/p><h3>Preimplantation screening is suitable for couples who exhibit the following indications:<\/h3><ul><li><b>higher female partner age<\/b>\u00a0\u2013 as the female partner\u2019s age increases so does the risk of aneuploidy in embryos due to the diminishing quality of her eggs. It was proven that this is the main cause of the rapid decrease of fertility in women older than 33-35 years of age. It is therefore not only the number of eggs that is diminishing but also their quality.<\/li><li><b>repeated miscarriage<\/b>\u00a0after excluding all other causes<\/li><li><b>repeated failures\u00a0<\/b>of previous assisted reproduction cycles<\/li><li><b>miscarriage or birth of a foetus with a development defect\u00a0<\/b>(chromosome abnormity)<\/li><li><b>numerical gonosomal aberrations<\/b>\u00a0(e.g. 47XXX,\u00a0 47XYY) and small\u00a0<b>gonosomal mosaics<\/b>\u00a0detected in peripheral blood (above 10%)<\/li><li><b>male (andrological) factor\u00a0<\/b>(e.g. serious oligoastenoteratozoospermia) using sperm obtained through the MESA\/TESE\/PESA\/TESA method<\/li><li>cases after\u00a0<b>oncological disease treatment\u00a0<\/b>using chemotherapy or radiotherapy in one or both partners<\/li><\/ul><p>[\/et_pb_text][et_pb_text module_class=\"textv textv--rose\" _builder_version=\"4.4.0\" animation_style=\"slide\" animation_direction=\"bottom\" animation_intensity_slide=\"10%\"]<\/p><h2>Purpose of PGT-A<\/h2><p>The purpose of PGT-A is to increase the chance of the birth of a healthy child and boost the success rate of the IVF cycle. In a common IVF cycle without preimplantation examination the embryos are chosen for transfer based on morphological criteria or the dynamics of their development. However, these criteria probably do not suffice to reliably exclude an embryo with a genetic abnormity.<\/p><p>In some cases the couples with a fertility defect oppose chromosome screening because they fear the freezing procedure, the biopsy itself, or in connection with the postponing of the transfer plan and so postponing their desired goal \u2013 a healthy baby. However, there is not nearly enough solid ground for such worries. Biopsy and freezing is a procedure for which only embryos of superior quality are selected, and so it presents only minimum stress to these embryos. The success rate of \u201cfresh\u201d blastocyst transfers of optimum quality is comparable with the transfer of embryos after freezing. The postponement of the transfer by a few months (1-3) therefore in this case provides a greater chance of success \u2013 birth of a healthy baby.<\/p><p>It is mainly caused by the fact that the negative pregnancy test, spontaneous miscarriage or silent miscarriage within the first trimester. If a manual revision of the uterine cavity is needed after the miscarriage of the foetus, the minimum recommended time period before the next embryotransfer is 6-12 weeks.[\/et_pb_text][et_pb_text module_class=\"textv textv--grey\" _builder_version=\"4.4.0\" animation_style=\"slide\" animation_direction=\"bottom\" animation_intensity_slide=\"10%\"]<\/p><h3>Other potential benefits of PGT-A:<\/h3><ul><li>Lower risk of complications during pregnancy, lower number of multiple pregnancies \u2013 after preimplantation screening we typically recommend the transfer of only one embryo.<\/li><li>The shortening of the treatment and reduction of financial costs connected with the birth of a healthy child thanks to a lower number of repeated cycles.<\/li><li>Based on the results of the embryo genetic testing the couple may decide to repeat the IVF cycle with their own eggs, or in case of a bad result, ask for a cycle with donated eggs\/sperm.<\/li><li>Couples with a worse estimated success rate of the IVF cycle can significantly increase their estimate using PGT-A and achieve the same level of success as couples who have a good lookout from the start, which means a success rate of over 40% per transfer even in case of the transfer of a single embryo.<\/li><\/ul><p>[\/et_pb_text][et_pb_text module_class=\"textv textv--rose\" _builder_version=\"4.4.0\" animation_style=\"slide\" animation_direction=\"bottom\" animation_intensity_slide=\"10%\"]<\/p><h3>Course and method of examination:<\/h3><p>Currently the trend is to examine the higher phases of the embryotic development (which provides us with a more complex set of information about the embryo under examination). Biopsy samples a group of 10-20 cells on day 5 or 6 of the embryotic development \u2013 the so-called blastocysts are the target of the biopsy. This procedure allows us to assess the complete genome of the future foetus (maternal as well as paternal share). However, the embryotransfer of the \u201cfresh\u201d embryo is not possible due to technical reasons. The biopsy has no negative impact on the embryo\u2019s ability to nest in the womb. Because only such cells are sampled which are as yet undifferentiated, their sampling does not create any consequences in the form of foetus damage. Biopsy has no impact on the genetic information of the foetus as well.<\/p><p>Your embryos (blastocysts) will be examined by the\u00a0<b>NGS\u00a0<\/b>(Next Generation Sequencing) method which enables us to examine the whole chromosome spectrum, or 23 couples. NGS is more sensitive compared to the older method, aCGH (Array-CGH) and it is able to discover even embryos with a mosaic.<\/p><h3>Possibility of embryo cumulating before genetic testing<\/h3><p>Generally, it is necessary to obtain a sufficient number of quality embryos. We have to take into account the fact that a certain part of the embryos will not be suitable on day 5 or 6 to be subjected to biopsy and a part of those embryos who underwent biopsy will probably be ruled out due to a positive presence of a defect in the number of quality of chromosomes. If in one cycle we are unable to obtain a sufficient number of eggs\/embryos after fertilisation so that the chance for finding a healthy embryo is good, it is possible to freeze all embryos and after some time perform another stimulation, egg collection and their fertilisation. Embryos from both or multiple cycles are then used jointly. This procedure is called accumulation. In this manner it is possible to achieve a higher chance of finding a healthy embryo and prevent unfruitful investments of the couple in question.<\/p><p>[\/et_pb_text][\/et_pb_column][\/et_pb_row][\/et_pb_section][et_pb_section fb_built=\"1\" module_id=\"pgtm\" _builder_version=\"4.4.0\" custom_padding=\"||||false|false\" hover_enabled=\"0\"][et_pb_row _builder_version=\"4.4.0\"][et_pb_column type=\"4_4\" _builder_version=\"4.4.0\"][et_pb_text module_class=\"c_blurb\" _builder_version=\"4.4.0\"]<\/p><h2>PGT-M (Preimplantation Genetic Testing for Monogenic\/Single Gene Diseases)<\/h2><p>[\/et_pb_text][et_pb_text module_class=\"textv textv--rose\" _builder_version=\"4.4.0\" animation_style=\"slide\" animation_direction=\"bottom\" animation_intensity_slide=\"10%\"](earlier known as PGD: Preimplantation Genetic Diagnosis)<br \/>Preimplantation genetic diagnostic is therefore a method which enables us to choose a so-called \u201chealthy embryo\u201d without specific genetic impairment. The main advantage of such procedure is the elimination of risk of the foetus carrying monitored genetic impairment. The couple therefore do not have to deal with any potential issues connected with an artificial abortion of the pregnancy. The principle and procedure as seen by the couple is similar to that of the PGT-A method.[\/et_pb_text][et_pb_text module_class=\"textv textv--grey\" _builder_version=\"4.4.0\" animation_style=\"slide\" animation_direction=\"bottom\" animation_intensity_slide=\"10%\"]<\/p><h3>Monogenic disease<\/h3><p>The scientific databases contain reference to more than 5000 rare hereditary diseases, which are potentially possible to detect using preimplantation diagnostic. Monogenic hereditary diseases are caused by the lack of function or change of function of one of our genes.<\/p><p>If we are to describe the rare diseases in layman\u2019s terms according to heredity types,\u00a0it is possible to divide them into three basic groups:<\/p><ul><li>recessive heredity<\/li><li>dominant heredity<\/li><li>gonosomal heredity\u00a0<\/li><\/ul><p>The risk of transfer of the disease varies for the individual groups onto the offspring, as do the various requirements for the selection of the embryo suitable for transfer.<\/p><p>Among the most common rare diseases in our rank there is:<\/p><p>\u00a0<\/p><ul><li>cystic fibrosis<\/li><li>spinal muscular atrophy<\/li><li>metabolic defects<\/li><li>neurofibromatosis<\/li><li>Marphan syndrome<\/li><li>Huntington chorea<\/li><li>familiar hypercholesterolmia<\/li><li>fragile X syndrome<\/li><li>muscular dystrophy syndrome<\/li><li>Other hereditary predispositions to tumorous diseases, e.g. BRCA1 and BRCA2.<\/li><\/ul><p>[\/et_pb_text][et_pb_text module_class=\"textv textv--rose\" _builder_version=\"4.4.0\" animation_style=\"slide\" animation_direction=\"bottom\" animation_intensity_slide=\"10%\"]<\/p><p>The most common way the partners learn about the genetic predispositions in the family is, unfortunately, when they conceive a child in which a serious disease of hereditary nature is found. In the better case it is possible that one or both partners learn of their predisposition in advance \u2013 in case that the genetic examination is performed preventively due the condition of another family member, or from the so-called predictive panel etc. For families with genetic predispositions PGT-M is the only reliable method to exclude the possibility of transfer of serious defects and hereditary disease onto the offspring. If it is determined that the partners are suitable candidates for an IVF cycle with preimplantation examination of the embryos they consult a clinical geneticist who specialises in the area of preimplantation diagnostics.<\/p><p>The sampled DNA cells are then used to determine the genetic set of the embryo. We are therefore able to say, with an almost 100% accuracy, whether the tested embryo is healthy or is a carrier of a disease, or bears genetic predisposition connected to the future development of the disease.<\/p><p>The embryo which passes this testing and is classified as genetically suitable is then transferred to the mother\u2019s uterus. If the couple has multiple embryos suitable for transfer, these may be used in case of repeated transfer or in the future should the couple want another child.<\/p><h3>Translocation<\/h3><p>Preimplantation genetic diagnostics by the means of translocation (or other structural chromosome defects) is suitable for couples in which one or both partners is a confirmed carrier of balanced translocation or a different chromosome structural rearrangement. Translocations constitute the most common chromosome structural abnormities, which appear with a frequency of approx. 1:625. Those who are carriers of balanced translocation may not exhibit any development defects or any afflictions or diseases. The problem arises in case of reproduction, when sperm or eggs may be created which do not contain the right amount of genetic material, i.e. a certain part is missing or is in excess<\/p><p>If such sperm and eggs become part of fertilisation, a genetically abnormal person with multiform development defects and serious organ afflictions. In the overwhelming majority of cases, however, the foetus experiences spontaneous abortion or the development defect is discovered during the prenatal diagnostics. In rare cases such an afflicted child is also born. The risk of creation of a so-called imbalanced embryo is 5% if the male partner is the carrier of balanced translocation, or 12% if it is the female partner.<\/p><p>Translocation may be a common case of miscarriages. Couples which experience repeated miscarriages should have their karyotype examined. This examination allows for the number of chromosomes to be determined and also discover whether chromosome translocation is present or not.<\/p><h3>Karyomapping<\/h3><p>Karyomapping is a new technology of genetic analysis of the embryo which may prevent the transfer of genetic predisposition onto the next generation. That is true for both couples in which both partners are carriers of the given disease and the persons who themselves suffer from a hereditary disease.<\/p><p>First, it is necessary to obtain a blood sample from the future father, mother and one other close relative who is known to either suffer from the disease or is healthy (in relation to the given disease). In most cases the afflicted child of the given couple is the relative in question. The relative\u2019s blood sample is referred to as the \u201creference sample\u201c.<\/p><p>Using karyomapping it is possible to examine chromosomes, elements made by our DNA and proteins which contain genes and are located in human cells. The karyomapping method is used to examine the mother\u2019s, father\u2019s and the reference sample\u2019s chromosomes at about 300\u00a0000 different places. This creates a reliable \u201cDNA profile\u201d of the chromosome with the mutated gene. Then all embryos are examined in such manner that it is possible to reliably eliminate those containing a mutated gene.<\/p><div class=\"flex_column av_one_full  av-animated-generic bottom-to-top  flex_column_div first  avia-builder-el-31  el_after_av_one_full  el_before_av_one_full  column-top-margin avia_start_animation avia_start_delayed_animation\"><section class=\"av_textblock_section \"><div class=\"avia_textblock  av_inherit_color \"><p>If the DNA profile connected with the mutated gene is not present, it can be said that the embryos inherited a normal copy of the gene without mutation and should be healthy with respect to the given disease. Such embryos are suitable for transfer into the mother\u2019s womb.<\/p><\/div><\/section><\/div><div class=\"flex_column av_one_full  av-animated-generic bottom-to-top  flex_column_div first  avia-builder-el-35  el_after_av_one_full  avia-builder-el-last  column-top-margin avia_start_animation avia_start_delayed_animation\"><section class=\"av_textblock_section \"><div class=\"avia_textblock  \">\u00a0<\/div><\/section><\/div><section class=\"av_textblock_section \"><div class=\"avia_textblock  av_inherit_color \">\u00a0<\/div><\/section><p>[\/et_pb_text][et_pb_text module_class=\"textv textv--grey\" _builder_version=\"4.4.0\" animation_style=\"slide\" animation_direction=\"bottom\" animation_intensity_slide=\"10%\"]<\/p><h3>How is karyomapping different from other methods used in case of PGD hereditary diseases?:<\/h3><ul><li><b>Simplification and speed<\/b><br \/>Apart from the DNA of the partners it is not necessary to request DNA from other family members. All that is needed is a DNA sample from one of the afflicted family member (a child, or any other relative), and in certain cases only the DNA samples of both partners are needed.<\/li><li><b>A solution even for tumorous diseases<\/b><br \/>This method is suitable not only for all monogenic diseases but also for all hereditary tumorous diseases such as mutations in BRCA1 and BRCA2 genes.<\/li><li><b>Two in one<\/b><br \/>As part of the karyomapping examination aneuploidy screening of all chromosomes (PGS) is automatically performed, which delivers all the advantages connected with this examination. Only such embryos are selected for transfer that are healthy and contain the right number of chromosomes, which increases the chance to get pregnant and also excludes the conception of a child with other development defects caused by the incorrect number of chromosome (Down syndrome, Edwards syndrome\u2026).<\/li><\/ul><p>Preimplantation genetic diagnostics cannot ensure the birth of an absolutely heathy child but it can reliably exclude transfer of a specific genetic predisposition onto the next generation. However, transfer of the \u201chealthy\u201d embryo does not mean that you shall not be recommended prenatal screening in the first and second trimester of the pregnancy.<\/p><p>[\/et_pb_text][\/et_pb_column][\/et_pb_row][\/et_pb_section]<\/p>","_et_gb_content_width":"","footnotes":""},"class_list":["post-849","page","type-page","status-publish","hentry"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.4 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Genetick\u00e9 diagnostick\u00e9 metody podrobn\u011b | FertilityPort Prague<\/title>\n<meta name=\"description\" content=\"P\u0159e\u010dt\u011bte si v\u00edce o genetick\u00fdch metod\u00e1ch, kter\u00e9 mohou zv\u00fd\u0161it \u0161anci na ot\u011bhotn\u011bn\u00ed \u010di sn\u00ed\u017eit riziko potratu \u010di porodu d\u00edt\u011bte s chromozom\u00e1ln\u00ed vadou\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/fertilityport.com\/genetics\/read-more\/\" \/>\n<meta property=\"og:locale\" content=\"cs_CZ\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Genetick\u00e9 diagnostick\u00e9 metody podrobn\u011b | FertilityPort Prague\" \/>\n<meta property=\"og:description\" content=\"P\u0159e\u010dt\u011bte si v\u00edce o genetick\u00fdch metod\u00e1ch, kter\u00e9 mohou zv\u00fd\u0161it \u0161anci na ot\u011bhotn\u011bn\u00ed \u010di sn\u00ed\u017eit riziko potratu \u010di porodu d\u00edt\u011bte s chromozom\u00e1ln\u00ed vadou\" \/>\n<meta property=\"og:url\" content=\"https:\/\/fertilityport.com\/genetics\/read-more\/\" \/>\n<meta property=\"og:site_name\" content=\"FertilityPort Prague\" \/>\n<meta property=\"article:modified_time\" content=\"2020-11-12T11:03:05+00:00\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:label1\" content=\"Odhadovan\u00e1 doba \u010dten\u00ed\" \/>\n\t<meta name=\"twitter:data1\" content=\"15 minut\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/fertilityport.com\\\/genetics\\\/read-more\\\/\",\"url\":\"https:\\\/\\\/fertilityport.com\\\/genetics\\\/read-more\\\/\",\"name\":\"Genetick\u00e9 diagnostick\u00e9 metody podrobn\u011b | FertilityPort Prague\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/fertilityport.com\\\/#website\"},\"datePublished\":\"2020-03-14T15:26:23+00:00\",\"dateModified\":\"2020-11-12T11:03:05+00:00\",\"description\":\"P\u0159e\u010dt\u011bte si v\u00edce o genetick\u00fdch metod\u00e1ch, kter\u00e9 mohou zv\u00fd\u0161it \u0161anci na ot\u011bhotn\u011bn\u00ed \u010di sn\u00ed\u017eit riziko potratu \u010di porodu d\u00edt\u011bte s chromozom\u00e1ln\u00ed vadou\",\"breadcrumb\":{\"@id\":\"https:\\\/\\\/fertilityport.com\\\/genetics\\\/read-more\\\/#breadcrumb\"},\"inLanguage\":\"cs\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\\\/\\\/fertilityport.com\\\/genetics\\\/read-more\\\/\"]}]},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\\\/\\\/fertilityport.com\\\/genetics\\\/read-more\\\/#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Home\",\"item\":\"https:\\\/\\\/fertilityport.com\\\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"Genetika\",\"item\":\"https:\\\/\\\/fertilityport.com\\\/genetics\\\/\"},{\"@type\":\"ListItem\",\"position\":3,\"name\":\"V\u00edce informac\u00ed\"}]},{\"@type\":\"WebSite\",\"@id\":\"https:\\\/\\\/fertilityport.com\\\/#website\",\"url\":\"https:\\\/\\\/fertilityport.com\\\/\",\"name\":\"FertilityPort Prague\",\"description\":\"\",\"potentialAction\":[{\"@type\":\"SearchAction\",\"target\":{\"@type\":\"EntryPoint\",\"urlTemplate\":\"https:\\\/\\\/fertilityport.com\\\/?s={search_term_string}\"},\"query-input\":{\"@type\":\"PropertyValueSpecification\",\"valueRequired\":true,\"valueName\":\"search_term_string\"}}],\"inLanguage\":\"cs\"}]}<\/script>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"Genetick\u00e9 diagnostick\u00e9 metody podrobn\u011b | FertilityPort Prague","description":"P\u0159e\u010dt\u011bte si v\u00edce o genetick\u00fdch metod\u00e1ch, kter\u00e9 mohou zv\u00fd\u0161it \u0161anci na ot\u011bhotn\u011bn\u00ed \u010di sn\u00ed\u017eit riziko potratu \u010di porodu d\u00edt\u011bte s chromozom\u00e1ln\u00ed vadou","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"https:\/\/fertilityport.com\/genetics\/read-more\/","og_locale":"cs_CZ","og_type":"article","og_title":"Genetick\u00e9 diagnostick\u00e9 metody podrobn\u011b | FertilityPort Prague","og_description":"P\u0159e\u010dt\u011bte si v\u00edce o genetick\u00fdch metod\u00e1ch, kter\u00e9 mohou zv\u00fd\u0161it \u0161anci na ot\u011bhotn\u011bn\u00ed \u010di sn\u00ed\u017eit riziko potratu \u010di porodu d\u00edt\u011bte s chromozom\u00e1ln\u00ed vadou","og_url":"https:\/\/fertilityport.com\/genetics\/read-more\/","og_site_name":"FertilityPort Prague","article_modified_time":"2020-11-12T11:03:05+00:00","twitter_card":"summary_large_image","twitter_misc":{"Odhadovan\u00e1 doba \u010dten\u00ed":"15 minut"},"schema":{"@context":"https:\/\/schema.org","@graph":[{"@type":"WebPage","@id":"https:\/\/fertilityport.com\/genetics\/read-more\/","url":"https:\/\/fertilityport.com\/genetics\/read-more\/","name":"Genetick\u00e9 diagnostick\u00e9 metody podrobn\u011b | FertilityPort Prague","isPartOf":{"@id":"https:\/\/fertilityport.com\/#website"},"datePublished":"2020-03-14T15:26:23+00:00","dateModified":"2020-11-12T11:03:05+00:00","description":"P\u0159e\u010dt\u011bte si v\u00edce o genetick\u00fdch metod\u00e1ch, kter\u00e9 mohou zv\u00fd\u0161it \u0161anci na ot\u011bhotn\u011bn\u00ed \u010di sn\u00ed\u017eit riziko potratu \u010di porodu d\u00edt\u011bte s chromozom\u00e1ln\u00ed vadou","breadcrumb":{"@id":"https:\/\/fertilityport.com\/genetics\/read-more\/#breadcrumb"},"inLanguage":"cs","potentialAction":[{"@type":"ReadAction","target":["https:\/\/fertilityport.com\/genetics\/read-more\/"]}]},{"@type":"BreadcrumbList","@id":"https:\/\/fertilityport.com\/genetics\/read-more\/#breadcrumb","itemListElement":[{"@type":"ListItem","position":1,"name":"Home","item":"https:\/\/fertilityport.com\/"},{"@type":"ListItem","position":2,"name":"Genetika","item":"https:\/\/fertilityport.com\/genetics\/"},{"@type":"ListItem","position":3,"name":"V\u00edce informac\u00ed"}]},{"@type":"WebSite","@id":"https:\/\/fertilityport.com\/#website","url":"https:\/\/fertilityport.com\/","name":"FertilityPort Prague","description":"","potentialAction":[{"@type":"SearchAction","target":{"@type":"EntryPoint","urlTemplate":"https:\/\/fertilityport.com\/?s={search_term_string}"},"query-input":{"@type":"PropertyValueSpecification","valueRequired":true,"valueName":"search_term_string"}}],"inLanguage":"cs"}]}},"_links":{"self":[{"href":"https:\/\/fertilityport.com\/cs\/wp-json\/wp\/v2\/pages\/849","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/fertilityport.com\/cs\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/fertilityport.com\/cs\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/fertilityport.com\/cs\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/fertilityport.com\/cs\/wp-json\/wp\/v2\/comments?post=849"}],"version-history":[{"count":6,"href":"https:\/\/fertilityport.com\/cs\/wp-json\/wp\/v2\/pages\/849\/revisions"}],"predecessor-version":[{"id":3267,"href":"https:\/\/fertilityport.com\/cs\/wp-json\/wp\/v2\/pages\/849\/revisions\/3267"}],"up":[{"embeddable":true,"href":"https:\/\/fertilityport.com\/cs\/wp-json\/wp\/v2\/pages\/843"}],"wp:attachment":[{"href":"https:\/\/fertilityport.com\/cs\/wp-json\/wp\/v2\/media?parent=849"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}