{"id":1901,"date":"2022-02-10T15:38:36","date_gmt":"2022-02-10T12:38:36","guid":{"rendered":"http:\/\/sirinevlerasm.com\/?p=1901"},"modified":"2022-02-11T12:52:01","modified_gmt":"2022-02-11T09:52:01","slug":"evlilik-oncesi-spinal-muskuler-atrofi-sma-tasiyici-tarama-programi","status":"publish","type":"post","link":"https:\/\/sirinevlerasm.com\/index.php\/2022\/02\/10\/evlilik-oncesi-spinal-muskuler-atrofi-sma-tasiyici-tarama-programi\/","title":{"rendered":"Evlilik \u00d6ncesi Spinal Musk\u00fcler Atrofi (SMA) Ta\u015f\u0131y\u0131c\u0131 Tarama Program\u0131"},"content":{"rendered":"<p>SMA, kraniyal sinir motor \u00e7ekirdekleri ve omurilikte yer alan \u00f6n boynuz motor n\u00f6ron h\u00fccrelerinin geri d\u00f6n\u00fc\u015f\u00fcms\u00fcz kayb\u0131 ve bunun sonucunda ortaya \u00e7\u0131kan kas atrofisi ve g\u00fc\u00e7s\u00fczl\u00fc\u011f\u00fc ile karakterize olan bir grup genetik hastal\u0131kt\u0131r. En s\u0131k g\u00f6r\u00fclen hastal\u0131k formu otozomal resesif olarak kal\u0131t\u0131l\u0131r. SMA hastal\u0131\u011f\u0131 1\/40-60 oran\u0131nda ta\u015f\u0131y\u0131c\u0131 oran\u0131na sahip bir hastal\u0131kt\u0131r. SMA ta\u015f\u0131y\u0131c\u0131l\u0131\u011f\u0131 i\u00e7in yap\u0131lan geni\u015f, \u00e7ok uluslu ve veri say\u0131s\u0131 fazla olan bir \u00e7al\u0131\u015fmada, insidans\u0131 1\/11.000 bulunmu\u015ftur. \u00dclkemizde SMA hastal\u0131\u011f\u0131n\u0131n g\u00f6r\u00fclme s\u0131kl\u0131\u011f\u0131 ve ta\u015f\u0131y\u0131c\u0131l\u0131k oranlar\u0131 net olarak bilinmemekle birlikte, son y\u0131llarda yakla\u015f\u0131k 1.200.000\/y\u0131l canl\u0131 do\u011fum ger\u00e7ekle\u015fti\u011fi g\u00f6z \u00f6n\u00fcnde bulunduruldu\u011funda, y\u0131ll\u0131k yeni vaka say\u0131s\u0131n\u0131n 130-180 (ortalama: 150) aras\u0131nda oldu\u011fu tahmin edilmektedir. \u00dclkemizde yakla\u015f\u0131k 3000 SMA hastas\u0131 izlenmektedir.<\/p>\n<p>\u0130ntrauterin d\u00f6nemde ba\u015flang\u0131\u00e7 g\u00f6steren formdan (SMA tip 0), yenido\u011fan ve erken-bebeklik (SMA tip 1), \u00e7ocukluk (SMA tip 2 ve 3), adolesan ve eri\u015fkin (SMA tip 3) ve eri\u015fkin (SMA tip 4) d\u00f6nemde ba\u015flang\u0131\u00e7 g\u00f6steren formlara kadar geni\u015f bir spektrumda bulgu verebilir.<\/p>\n<p>SMA tan\u0131s\u0131 \u00f6yk\u00fc, belirtiler ve klinik bulgularla birlikte muayene bulgular\u0131na dayan\u0131r. Kesin tan\u0131,\u00a0<em>SMN1<\/em>\u00a0molek\u00fcler genetik analizinde patojenik varyant\u0131n tespiti ile konur.\u00a0<em>SMN2\u00a0<\/em>kopya say\u0131s\u0131 ise s\u0131kl\u0131kla fenotipik \u00f6zellik i\u00e7in istenir.<\/p>\n<p>Ta\u015f\u0131y\u0131c\u0131l\u0131k oranlar\u0131n\u0131n \u00fclkemizde y\u00fcksek olmas\u0131 nedeni ile SMA ta\u015f\u0131y\u0131c\u0131l\u0131\u011f\u0131, ailesinde hasta bebek olan veya olmayan t\u00fcm \u00e7iftlere gebelik \u00f6ncesi \u00f6nerilmelidir. \u00c7iftin ta\u015f\u0131y\u0131c\u0131 oldu\u011fu belirlendi\u011finde, sa\u011fl\u0131kl\u0131 \u00e7ocuk i\u00e7in<\/p>\n<ul>\n<li style=\"list-style-type: none;\">\n<ul>\n<li>Genetik dan\u0131\u015fma,<\/li>\n<li>Prenatal veya<\/li>\n<li>Pre-implantasyon tan\u0131 testi se\u00e7enekleri sunulabilir.<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p><strong>Do\u011fum \u00d6ncesi (Prenatal) Tan\u0131:<\/strong><\/p>\n<p>Prenatal tan\u0131 ve pre-implantasyon tan\u0131 bir\u00e7ok genetik hastal\u0131kta oldu\u011fu gibi SMA\u2019da da her ikisi ta\u015f\u0131y\u0131c\u0131 olan \u00e7iftlere \u00f6nerilmekte ve genetik dan\u0131\u015fma sonras\u0131 isteyen ailelere uygulanmaktad\u0131r. Ta\u015f\u0131y\u0131c\u0131 \u00e7iftlerin her gebelikte her fetus i\u00e7in %25 hasta \u00e7ocuk riski vard\u0131r. Prenatal tan\u0131 testi gebeli\u011fin 10. haftas\u0131ndan itibaren koriyon vill\u00fcs \u00f6rneklemesi (CVS), 15. haftas\u0131ndan itibaren de amniyosentez \u00f6rne\u011fi \u00fczerinde yap\u0131lan testlerle ger\u00e7ekle\u015ftirilir. SMA\u2019da etkilenmi\u015f bireyin varl\u0131\u011f\u0131nda baba ve anne muhakkak genetik a\u00e7\u0131dan ara\u015ft\u0131r\u0131lmal\u0131d\u0131r. Ailede indeks vaka olmas\u0131 durumunda anne ve babaya daha \u00f6nce ta\u015f\u0131y\u0131c\u0131l\u0131k tarama testi yap\u0131lmam\u0131\u015f olsa da yap\u0131lmal\u0131, genetik dan\u0131\u015fma ve risk alt\u0131ndaki di\u011fer aile bireylerinin taranmas\u0131 a\u00e7\u0131s\u0131ndan T\u0131bbi Genetik uzmanlar\u0131na y\u00f6nlendirilmelidir. Ailede etkilenmi\u015f bir bireyin olmamas\u0131 durumunda ise ta\u015f\u0131y\u0131c\u0131l\u0131k taramalar\u0131 ile riskli \u00e7iftler belirlenebilir. SMA ta\u015f\u0131y\u0131c\u0131l\u0131k taramas\u0131 sonras\u0131nda \u00e7iftlerin test sonucunu anlayabilmeleri, riskleri ve sa\u011fl\u0131kl\u0131 \u00e7ocuk i\u00e7in se\u00e7enekleri hakk\u0131nda bilgilendirilebilmeleri i\u00e7in t\u0131bbi genetik uzman\u0131ndan dan\u0131\u015fmanl\u0131k almalar\u0131 gerekir.<\/p>\n<p><strong>Evlilik \u00d6ncesi SMA Ta\u015f\u0131y\u0131c\u0131 Tarama Program\u0131<\/strong><\/p>\n<p>Evlilik \u00f6ncesi d\u00f6nemde SMA a\u00e7\u0131s\u0131ndan her ikisi de ta\u015f\u0131y\u0131c\u0131 \u00e7iftleri belirleyerek, ailelere genetik dan\u0131\u015fma vermek, SMA hastal\u0131\u011f\u0131n\u0131n uzun d\u00f6nem morbidite ve mortalitesini azaltmak ama\u00e7lanmaktad\u0131r.\u00a0Program 2021 y\u0131l\u0131 aral\u0131k sonu itibariyle 81 ilde uygulanmaya ba\u015flanm\u0131\u015ft\u0131r.<\/p>\n<p>SMA Ta\u015f\u0131y\u0131c\u0131 Taramas\u0131 evlilik \u00f6ncesi sa\u011fl\u0131k raporu almak i\u00e7in ba\u015fvuran \u00e7iftler ve halen evli olan \u00e7iftlerden de talep edenler i\u00e7in yap\u0131lacakt\u0131r.<\/p>\n<p>T\u00fcm bu \u00e7al\u0131\u015fmalar\u0131n sonucunda her iki e\u015f aday\u0131n\u0131n da SMA ta\u015f\u0131y\u0131c\u0131 oldu\u011funun belirlenmesi durumunda, ailelere hastal\u0131k hakk\u0131nda ayr\u0131nt\u0131l\u0131 bilgi ve genetik dan\u0131\u015fma verilmesi ama\u00e7lanmaktad\u0131r. Geni\u015fletilmi\u015f bu program\u0131n amac\u0131, mevcut e\u015f adaylar\u0131n\u0131n ayr\u0131nt\u0131l\u0131 genetik dan\u0131\u015fmanl\u0131k hizmeti ve prenatal tan\u0131 olanaklar\u0131 hakk\u0131nda bilgilendirilmeleri ve y\u00f6nlendirilmelerini sa\u011flamakt\u0131r.<\/p>\n<p><strong>Kimlere, Kimler Taraf\u0131ndan Uygulan\u0131r?<\/strong><\/p>\n<ul>\n<li>Evlilik \u00f6ncesi d\u00f6nemde evlilik raporu almak i\u00e7in aile hekimlerine ba\u015fvuranlara, halen evli olup bebek sahibi olmay\u0131 d\u00fc\u015f\u00fcnen \u00e7iftlerden isteyenlere tarama testi uygulan\u0131r.<\/li>\n<li>Tarama i\u00e7in \u00f6ncelikle erkek e\u015f\/e\u015f aday\u0131ndan \u00f6rnek al\u0131n\u0131r.<\/li>\n<li>Evlilik \u00f6ncesi sa\u011fl\u0131k raporu i\u00e7in ba\u015fvuranlara rapor d\u00fczenlenir.<\/li>\n<li>Erkek e\u015fin\/e\u015f aday\u0131n\u0131n tetkik sonu\u00e7lar\u0131nda \u015f\u00fcpheli pozitif bir sonu\u00e7 yoksa takipten \u00e7\u0131kar\u0131l\u0131r. E\u011fer erkek e\u015f aday\u0131nda \u015f\u00fcpheli sonu\u00e7 \u00e7\u0131karsa mutlaka kad\u0131n e\u015f\/e\u015f aday\u0131na da tarama testi uygulanmal\u0131d\u0131r.<\/li>\n<li>Evlilik \u00d6ncesi SMA Ta\u015f\u0131y\u0131c\u0131 Tarama Program\u0131 kapsam\u0131nda do\u011furganl\u0131k \u00e7a\u011f\u0131n\u0131 tamamlam\u0131\u015f kad\u0131n adaylardan kan al\u0131nmas\u0131na gerek yoktur.<\/li>\n<li>Evlilik i\u00e7in ba\u015fvuru yapan ki\u015fi daha \u00f6nce evlenmi\u015f ve Evlilik \u00d6ncesi SMA Ta\u015f\u0131y\u0131c\u0131 Tarama Program\u0131 kapsam\u0131nda tetkik vermi\u015f ise testin tekrarlanmas\u0131na gerek yoktur.<\/li>\n<li>Ki\u015filer daha \u00f6nce bir sebepten tarama yapt\u0131rm\u0131\u015fsa testin tekrarlanmas\u0131na gerek yoktur.<\/li>\n<li>\u00d6zel durumlarda her iki e\u015f aday\u0131na da tarama testi uygulanabilir.<\/li>\n<li>Tarama testleri i\u00e7in kan \u00f6rnekleri, e\u015flerin\/e\u015f adaylar\u0131n\u0131n kay\u0131tl\u0131 olduklar\u0131 Aile Hekimli\u011fi Birimlerinde (AHB) al\u0131n\u0131r.<\/li>\n<li>Al\u0131nan kan \u00f6rnekleri \u0130l Sa\u011fl\u0131k M\u00fcd\u00fcrl\u00fcklerince belirlenen g\u00fcnlerde Genel M\u00fcd\u00fcrl\u00fc\u011f\u00fcm\u00fcz b\u00fcnyesinde kurulan tarama laboratuvar\u0131na g\u00f6nderilir.<\/li>\n<li>Tarama sonu\u00e7lar\u0131 aile hekimlerine sistem \u00fczerinden iletilir ve ki\u015filer de sonu\u00e7lar\u0131n\u0131 e-nab\u0131z \u00fczerinden g\u00f6rebilir.<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>SMA, kraniyal sinir motor \u00e7ekirdekleri ve omurilikte yer alan \u00f6n boynuz motor n\u00f6ron h\u00fccrelerinin geri d\u00f6n\u00fc\u015f\u00fcms\u00fcz kayb\u0131 ve bunun sonucunda ortaya \u00e7\u0131kan kas atrofisi ve g\u00fc\u00e7s\u00fczl\u00fc\u011f\u00fc ile karakterize olan bir grup genetik hastal\u0131kt\u0131r. En s\u0131k g\u00f6r\u00fclen hastal\u0131k formu otozomal resesif olarak kal\u0131t\u0131l\u0131r. SMA hastal\u0131\u011f\u0131 1\/40-60 oran\u0131nda ta\u015f\u0131y\u0131c\u0131 oran\u0131na sahip bir hastal\u0131kt\u0131r. SMA ta\u015f\u0131y\u0131c\u0131l\u0131\u011f\u0131 i\u00e7in yap\u0131lan [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":1926,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-1901","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-genel"],"_links":{"self":[{"href":"https:\/\/sirinevlerasm.com\/index.php\/wp-json\/wp\/v2\/posts\/1901","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/sirinevlerasm.com\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/sirinevlerasm.com\/index.php\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/sirinevlerasm.com\/index.php\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/sirinevlerasm.com\/index.php\/wp-json\/wp\/v2\/comments?post=1901"}],"version-history":[{"count":4,"href":"https:\/\/sirinevlerasm.com\/index.php\/wp-json\/wp\/v2\/posts\/1901\/revisions"}],"predecessor-version":[{"id":1932,"href":"https:\/\/sirinevlerasm.com\/index.php\/wp-json\/wp\/v2\/posts\/1901\/revisions\/1932"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/sirinevlerasm.com\/index.php\/wp-json\/wp\/v2\/media\/1926"}],"wp:attachment":[{"href":"https:\/\/sirinevlerasm.com\/index.php\/wp-json\/wp\/v2\/media?parent=1901"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/sirinevlerasm.com\/index.php\/wp-json\/wp\/v2\/categories?post=1901"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/sirinevlerasm.com\/index.php\/wp-json\/wp\/v2\/tags?post=1901"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}