[{"@context":"https:\/\/schema.org\/","@type":"Article","@id":"https:\/\/www.masko.sk\/fakty-a-myty-o-detoch-s-downovym-syndromom\/#Article","mainEntityOfPage":"https:\/\/www.masko.sk\/fakty-a-myty-o-detoch-s-downovym-syndromom\/","headline":"Fakty a m\u00fdty o de\u0165och s Downov\u00fdm syndr\u00f3mom","name":"Fakty a m\u00fdty o de\u0165och s Downov\u00fdm syndr\u00f3mom","description":"Pri Downovom syndr\u00f3me m\u00f4\u017eeme hovori\u0165 o\u00a0naj\u010dastej\u0161ej genetickej pr\u00ed\u010dine intelektu\u00e1lneho zaost\u00e1vania det\u00ed. Po\u010das jedn\u00e9ho roka sa na Slovensku narod\u00ed v\u00a0priemere 43 det\u00ed s\u00a0touto genetickou poruchou. Tento syndr\u00f3m v\u0161ak m\u00f4\u017eu po\u010das prenat\u00e1lnej diagnostiky odhali\u0165 viacer\u00e9 testy a\u00a0vy\u0161etrovacie met\u00f3dy. Najspo\u013eahlivej\u0161ou met\u00f3dou, ako t\u00fato diagn\u00f3zu potvrdi\u0165 je ich spr\u00e1vna kombin\u00e1cia. \u00a0 Triz\u00f3mia\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Nepatr\u00edmedzi genetick\u00e9 poruchy zdeden\u00e9 po predkoch. Ide … ","datePublished":"2018-09-09","dateModified":"2023-04-28","author":{"@type":"Person","@id":"https:\/\/www.masko.sk\/author\/#Person","name":"","url":"https:\/\/www.masko.sk\/author\/","identifier":1,"image":{"@type":"ImageObject","@id":"https:\/\/secure.gravatar.com\/avatar\/eaa8d03c255e1a749937a03afe319562d500ac9ddac78a88a8e436c8d21c5e47?s=96&d=mm&r=g","url":"https:\/\/secure.gravatar.com\/avatar\/eaa8d03c255e1a749937a03afe319562d500ac9ddac78a88a8e436c8d21c5e47?s=96&d=mm&r=g","height":96,"width":96}},"publisher":{"@type":"Organization","name":"masko.sk","logo":{"@type":"ImageObject","@id":"\/logo.png","url":"\/logo.png","width":600,"height":60}},"image":{"@type":"ImageObject","@id":"https:\/\/www.masko.sk\/wp-content\/uploads\/img_a293064_w16638_t1541777299.jpg","url":"https:\/\/www.masko.sk\/wp-content\/uploads\/img_a293064_w16638_t1541777299.jpg","height":0,"width":0},"url":"https:\/\/www.masko.sk\/fakty-a-myty-o-detoch-s-downovym-syndromom\/","about":["Zdravie"],"wordCount":424,"articleBody":"\tPri Downovom syndr\u00f3me m\u00f4\u017eeme hovori\u0165 o\u00a0naj\u010dastej\u0161ej genetickej pr\u00ed\u010dine intelektu\u00e1lneho zaost\u00e1vania det\u00ed. Po\u010das jedn\u00e9ho roka sa na Slovensku narod\u00ed v\u00a0priemere 43 det\u00ed s\u00a0touto genetickou poruchou. Tento syndr\u00f3m v\u0161ak m\u00f4\u017eu po\u010das prenat\u00e1lnej diagnostiky odhali\u0165 viacer\u00e9 testy a\u00a0vy\u0161etrovacie met\u00f3dy. Najspo\u013eahlivej\u0161ou met\u00f3dou, ako t\u00fato diagn\u00f3zu potvrdi\u0165 je ich spr\u00e1vna kombin\u00e1cia.\t\t\u00a0\tTriz\u00f3mia\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Nepatr\u00edmedzi genetick\u00e9 poruchy zdeden\u00e9 po predkoch. Ide v\u017edy o\u00a0nov\u00fa chybu, z\u00edskan\u00fa \u201ev\u010faka\u201c nespr\u00e1vne vytvoren\u00e9mu vaj\u00ed\u010dku. Vznik\u00e1 tesne po oplodnen\u00ed vaj\u00ed\u010dka, ke\u010f sa bunky delia a\u00a0vyv\u00edjaj\u00fa extr\u00e9mnou r\u00fdchlos\u0165ou. Najzn\u00e1mej\u0161ou triz\u00f3miou je pr\u00e1ve 21 – Downov syndr\u00f3m. Zriedkavej\u0161ou je 18 \u2013 Edwardsov syndr\u00f3m a\u00a013 \u2013 Patauov syndr\u00f3m.\tTrisomy test\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Je neinvaz\u00edvne skr\u00edningov\u00e9 vy\u0161etrenie z\u00a0krvi matky, ktor\u00e9 dok\u00e1\u017ee s\u00a0vysokou presnos\u0165ou vyl\u00fa\u010di\u0165 chromoz\u00f3mov\u00e9 poruchy u\u017e v\u00a011. t\u00fd\u017edni tehotenstva. V\u00a0pr\u00edpade z\u00e1ujmu je mo\u017en\u00e9 zisti\u0165 aj pohlavie b\u00e1b\u00e4tka. V\u00a0porovnan\u00ed s\u00a0in\u00fdmi skr\u00edningov\u00fdmi met\u00f3dami m\u00e1 vy\u0161\u0161iu citlivos\u0165 pre z\u00e1chyt sledovan\u00fdch por\u00fach, minimalizuje falo\u0161n\u00e9 pozit\u00edvne v\u00fdsledky, zni\u017euje po\u010det potrebn\u00fdch amniocent\u00e9z a\u00a0nepredstavuje pre die\u0165a ani matku \u017eiadne riziko.\tFormy DS\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Vo\u013en\u00e1 triz\u00f3mia 21 \u2013die\u0165a, ktor\u00e9 m\u00e1 t\u00fato formu, m\u00e1 nadbyto\u010dn\u00fd cel\u00fd 21. chromoz\u00f3m v\u00a0ka\u017edej bunke svojho tela. Vznik\u00e1 tak, \u017ee jeden z\u00a0rodi\u010dov odovzd\u00e1 namiesto jedn\u00e9ho 21. chromoz\u00f3mu, chromoz\u00f3my dva.\t\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Mozaicizmus \u2013deti maj\u00fa l\u00edniu s\u00a0nadpo\u010detn\u00fdm 21. chromoz\u00f3mom, ale aj bunkov\u00fa l\u00edniu s\u00a0norm\u00e1lnym po\u010dtom chromoz\u00f3mov. Deti s\u00a0touto formou maj\u00fa menej n\u00e1padn\u00e9 znaky DS, preto\u017ee bunky s\u00a0nadpo\u010detn\u00fdm a\u00a0norm\u00e1lnym po\u010dtom chromoz\u00f3mov maj\u00fa striedavo usporiadan\u00e9 \u2013 ako mozaiku.\t\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 Translok\u00e1cia \u2013v\u00a0tomto pr\u00edpade nie je nadbyto\u010dn\u00fd cel\u00fd 21. chromoz\u00f3m, ale iba jeho \u010das\u0165.\t\t\u00a0\tNaj\u010dastej\u0161ie m\u00fdty o\u00a0de\u0165och s\u00a0Downov\u00fdm syndr\u00f3mom\t\u00a0\t\tV\u00e4\u010d\u0161ina det\u00ed s\u00a0DS sa rod\u00ed star\u0161\u00edm rodi\u010dom.\t\tDeti s\u00a0DS nie s\u00fa schopn\u00e9 u\u010di\u0165 sa a\u00a0s\u00fa \u010dasto agres\u00edvne.\t\tDeti s\u00a0DS s\u00fa ment\u00e1lne postihnut\u00e9 a\u00a0mali by sa umiestni\u0165 do \u00fastavu.\t\tDS je zriedkav\u00e1 genetick\u00e1 porucha.\t\tDeti s\u00a0DS s\u00fa v\u017edy spokojn\u00e9.\t\t\u013dudia s\u00a0DS sa nedo\u017e\u00edvaj\u00fa vysok\u00e9ho veku.\t\tDS je dedi\u010dn\u00fd.\t\t\u013dudia s\u00a0DS nie s\u00fa schopn\u00ed v\u00a0neskor\u0161om veku pracova\u0165.\u00a0                                                                                                                                                                                                                                                                                                                                                                                        4.4\/5 - (9 votes)        "},{"@context":"https:\/\/schema.org\/","@type":"BreadcrumbList","itemListElement":[{"@type":"ListItem","position":1,"name":"Fakty a m\u00fdty o de\u0165och s Downov\u00fdm syndr\u00f3mom","item":"https:\/\/www.masko.sk\/fakty-a-myty-o-detoch-s-downovym-syndromom\/#breadcrumbitem"}]}]