[{"@context":"https:\/\/schema.org\/","@type":"Article","@id":"https:\/\/www.sekacik.sk\/geneticke-testovanie-novorodencov\/#Article","mainEntityOfPage":"https:\/\/www.sekacik.sk\/geneticke-testovanie-novorodencov\/","headline":"Genetick\u00e9 testovanie novorodencov","name":"Genetick\u00e9 testovanie novorodencov","description":"V\u0161etci novorodenci v na\u0161ej krajine po dobu 15 rokov absolvovali povinn\u00fa anal\u00fdzu dvoch dedi\u010dn\u00fdch ochoren\u00ed: fenylketon\u00farie a vrodenej hypotyre\u00f3zy . V nemocnici, v piaty de\u0148 Pre\u010d\u00edta\u0165<\/a>","datePublished":"2018-09-09","dateModified":"2023-04-27","author":{"@type":"Person","@id":"https:\/\/www.sekacik.sk\/author\/#Person","name":"","url":"https:\/\/www.sekacik.sk\/author\/","identifier":1,"image":{"@type":"ImageObject","@id":"https:\/\/secure.gravatar.com\/avatar\/e7b590144558ebad68292226b8af0772e2d53ba82fa105c348ae9b5254e51a11?s=96&d=mm&r=g","url":"https:\/\/secure.gravatar.com\/avatar\/e7b590144558ebad68292226b8af0772e2d53ba82fa105c348ae9b5254e51a11?s=96&d=mm&r=g","height":96,"width":96}},"publisher":{"@type":"Organization","name":"sekacik.sk","logo":{"@type":"ImageObject","@id":"\/logo.png","url":"\/logo.png","width":600,"height":60}},"image":{"@type":"ImageObject","@id":"https:\/\/www.sekacik.sk\/wp-content\/uploads\/img_a293074_w16582_t1541778325.jpg","url":"https:\/\/www.sekacik.sk\/wp-content\/uploads\/img_a293074_w16582_t1541778325.jpg","height":0,"width":0},"url":"https:\/\/www.sekacik.sk\/geneticke-testovanie-novorodencov\/","wordCount":486,"articleBody":"\tV\u0161etci novorodenci v na\u0161ej krajine po dobu 15 rokov absolvovali povinn\u00fa anal\u00fdzu dvoch dedi\u010dn\u00fdch ochoren\u00ed: fenylketon\u00farie a vrodenej hypotyre\u00f3zy . V nemocnici, v piaty de\u0148 \u017eivota, sa odoberie kvapka krvi ka\u017ed\u00e9ho die\u0165a\u0165a a posiela sa na genetick\u00e9 poradenstvo. Po prv\u00e9 sa ur\u010duje, \u010di die\u0165a nem\u00e1 po\u0161koden\u00e9 g\u00e9ny zodpovedn\u00e9 za spracovanie fenylalan\u00ednu. T\u00e1to aminokyselina je pr\u00edtomn\u00e1 takmer vo v\u0161etk\u00fdch prote\u00ednov\u00fdch produktoch.\u00a0 Die\u0165a dostane produkty, ktor\u00e9 obsahuj\u00fa bielkoviny (umo\u017e\u0148uje die\u0165a\u0165u r\u00e1s\u0165 a rozv\u00edja\u0165 sa), osloboden\u00e9 od \u0161kodliv\u00fdch aminokysel\u00edn.\t\t\tAk nie je dodr\u017ean\u00e1 strava, die\u0165a je ods\u00faden\u00e9 na \u0165a\u017ek\u00fa \u200b\u200bment\u00e1lnu retard\u00e1ciu. Pri \u0161peci\u00e1lnej di\u00e9te \u017eij\u00fa pacienti s fenylketon\u00fariou pribli\u017ene 10-12, niekedy a\u017e 18 rokov. Deti sa norm\u00e1lne rozv\u00edjaj\u00fa, chodia na be\u017en\u00fa \u0161kolu, vo v\u0161eobecnosti je mo\u017en\u00e9 vylie\u010di\u0165 genetick\u00e9 ochorenie nie priamo, zmenou g\u00e9nu, ale ak to m\u00f4\u017eem poveda\u0165, cez okru\u017en\u00fa cestu.\t\tDruh\u00e1 anal\u00fdza kvapiek krvi novorodenca sa testuje na vroden\u00fa hypotyre\u00f3zu. \u0160t\u00fadia odha\u013euje horm\u00f3ny \u0161t\u00edtnej \u017e\u013eazy thyrox\u00edn.\u00a0 S miernym po\u0161koden\u00edm \u0161t\u00edtnej \u017e\u013eazy, u\u017e\u00edvan\u00edm mal\u00fdch d\u00e1vok tohto horm\u00f3nu, sa \u010dlovek bude c\u00edti\u0165 \u00faplne zdrav\u00fd. Pribli\u017ene 150 det\u00ed, ktor\u00e9 trpia fenylketon\u00fariou a 450-460, ktor\u00e9 nevytv\u00e1raj\u00fa horm\u00f3n tyrox\u00edn, sa ka\u017edoro\u010dne objav\u00ed. Takmer v\u0161etci dok\u00e1\u017eu pom\u00f4c\u0165, ak sa diagnostika uskuto\u010dn\u00ed v\u010das.\t\tA teraz v r\u00e1mci n\u00e1rodn\u00e9ho projektu „Zdravie“ bud\u00fa v\u0161etci\u00a0 novorodenci\u00a0 testovan\u00ed\u00a0 na \u010fal\u0161ie tri dedi\u010dn\u00e9 choroby: adrenogenit\u00e1lny syndr\u00f3m , galaktoz\u00e9mia a\u00a0 cystick\u00fa fibr\u00f3zu .\t\tAk m\u00e1te dedi\u010dn\u00e9 choroby vo va\u0161ej rodine: hemof\u00edlia, diabetes mellitus, Getingtonova chorea, Duchenne myopatia … Lek\u00e1ri ur\u010dia, \u010di nesiete chybn\u00fd g\u00e9n, ktor\u00fd sp\u00f4sobuje tak\u00fato chorobu a m\u00f4\u017eete ju prenies\u0165 na va\u0161e die\u0165a. Pod\u013ea \u0161tatist\u00edk sa u \u017eien po 37 rokoch zvy\u0161uje riziko vzniku die\u0165a\u0165a s chromoz\u00f3mov\u00fdmi poruchami, najm\u00e4 s Downov\u00fdm syndr\u00f3mom.\u00a0Atenat\u00e1lne vy\u0161etrenia s\u00fa \u010fal\u0161\u00edm sp\u00f4sobom, ako zabr\u00e1ni\u0165 narodeniu nevylie\u010dite\u013en\u00e9ho die\u0165a\u0165a. T\u00e1to l\u00ednia diagnostiky dedi\u010dn\u00fdch ochoren\u00ed sa v s\u00fa\u010dasnosti rozv\u00edja ve\u013emi r\u00fdchlo. Pred nieko\u013ek\u00fdmi rokmi ministerstvo zdravotn\u00edctva vydalo pr\u00edkaz, pod\u013ea ktor\u00e9ho sa m\u00e1 v\u00fdvojov\u00fd plod vy\u0161etri\u0165 na genetick\u00e9 chyby: vykona\u0165\u00a0 ultrazvuk\u00a0 a \u0161t\u00fadium prote\u00ednovo-s\u00e9rov\u00fdch faktorov – alfa-fetoprote\u00ednov\u00e9ho prote\u00ednu a \u013eudsk\u00e9ho horm\u00f3nu choreogonick\u00e9ho. Tieto vy\u0161etrenia odha\u013euj\u00fa asi 70% vroden\u00fdch abnormal\u00edt! Downovu chorobu a Edwardsovu chorobu – chromoz\u00f3mov\u00e9 ochorenia, ktor\u00e9 ur\u010duj\u00fa ment\u00e1lnu retard\u00e1ciu, v\u00fdvojov\u00e9 poruchy nervov\u00e9ho syst\u00e9mu, srdce, mozog, anom\u00e1lie kon\u010dat\u00edn … 4.4\/5 - (7 votes) "},{"@context":"https:\/\/schema.org\/","@type":"BreadcrumbList","itemListElement":[{"@type":"ListItem","position":1,"name":"Genetick\u00e9 testovanie novorodencov","item":"https:\/\/www.sekacik.sk\/geneticke-testovanie-novorodencov\/#breadcrumbitem"}]}]