{"id":2237,"date":"2026-09-21T18:06:53","date_gmt":"2026-09-21T15:06:53","guid":{"rendered":"https:\/\/gynaikologos-komotini.gr\/?p=2237"},"modified":"2026-09-22T18:36:48","modified_gmt":"2026-09-22T15:36:48","slug":"genisletilmis-tasiyicilik-taramasi-ecs-fetusun-genetik-riskinden-anne-sagligina","status":"publish","type":"post","link":"https:\/\/gynaikologos-komotini.gr\/tr\/genisletilmis-tasiyicilik-taramasi-ecs-fetusun-genetik-riskinden-anne-sagligina\/","title":{"rendered":"Geni\u015fletilmi\u015f Ta\u015f\u0131y\u0131c\u0131l\u0131k Taramas\u0131 (ECS): Fet\u00fcs\u00fcn Genetik Riskinden Anne Sa\u011fl\u0131\u011f\u0131na"},"content":{"rendered":"\t\t
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Ta\u015f\u0131y\u0131c\u0131l\u0131k taramas\u0131n\u0131n (carrier screening)<\/strong> geleneksel amac\u0131 olduk\u00e7a basitti: ayn\u0131 otozomal resesif hastal\u0131\u011f\u0131n klinik olarak sa\u011fl\u0131kl\u0131 iki ta\u015f\u0131y\u0131c\u0131s\u0131n\u0131 veya X’e ba\u011fl\u0131 bir hastal\u0131\u011f\u0131n kad\u0131n ta\u015f\u0131y\u0131c\u0131s\u0131n\u0131 belirlemek ve \u00e7ocuk a\u00e7\u0131s\u0131ndan genetik riski hesaplamak. Ancak yeni nesil dizileme (NGS)<\/strong> teknolojilerinin geli\u015fmesiyle y\u00fczlerce gen art\u0131k e\u015f zamanl\u0131 olarak incelenebilmekte ve Geni\u015fletilmi\u015f Ta\u015f\u0131y\u0131c\u0131l\u0131k Taramas\u0131 (Expanded Carrier Screening \u2013 ECS), hedefe y\u00f6nelik bir testten daha geni\u015f kapsaml\u0131 bir \u00fcreme sa\u011fl\u0131\u011f\u0131 ve korunma stratejisine d\u00f6n\u00fc\u015fmektedir.\"\"<\/p>

Epidemiyolojik olarak \u00e7iftlerin yakla\u015f\u0131k %0,3’\u00fc kistik fibrozis, spinal musk\u00fcler atrofi veya Frajil X sendromundan etkilenmi\u015f bir \u00e7ocuk sahibi olma riski ta\u015f\u0131maktad\u0131r. Ayr\u0131ca 3.000’den fazla gen, otozomal kromozomlarda (22 \u00e7ift) veya cinsiyet kromozomlar\u0131nda (X\/Y) yer alan genetik hastal\u0131klarla ili\u015fkilendirilmi\u015ftir.<\/p>

Sorunun genel \u00f6nemi, tek tek nadir hastal\u0131klar\u0131n d\u00fc\u015f\u00fcnd\u00fcrd\u00fc\u011f\u00fcnden daha b\u00fcy\u00fckt\u00fcr. \u00c7iftlerin yakla\u015f\u0131k %1\u20132’si<\/strong>, se\u00e7ilmi\u015f ciddi bir resesif hastal\u0131ktan etkilenmi\u015f \u00e7ocuk sahibi olma a\u00e7\u0131s\u0131ndan artm\u0131\u015f risk ta\u015f\u0131yabilir. Otozomal resesif veya X’e ba\u011fl\u0131 bir hastal\u0131k tan\u0131s\u0131 alm\u0131\u015f \u00e7ocuklarda yap\u0131lan \u00e7al\u0131\u015fmalar, bu hastal\u0131klar\u0131n bir b\u00f6l\u00fcm\u00fcn\u00fcn geni\u015fletilmi\u015f ta\u015f\u0131y\u0131c\u0131l\u0131k taramas\u0131 ile \u00f6nceden \u00f6ng\u00f6r\u00fclebilece\u011fini d\u00fc\u015f\u00fcnd\u00fcrmektedir.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t

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Bu nedenle ECS yaln\u0131zca etnik k\u00f6ken veya soy ge\u00e7mi\u015fine\u2014\u00f6rne\u011fin \u03b2-talasemide geleneksel olarak oldu\u011fu gibi\u2014dayal\u0131 olarak de\u011fil, daha geni\u015f \u00f6l\u00e7ekte de\u011ferlendirilebilir. Akraba \u00e7iftlerde, infertilite sorunu ya\u015fayan \u00e7iftlerde ve yard\u0131mc\u0131 \u00fcreme y\u00f6ntemlerine ba\u015fvuranlarda<\/strong> \u00f6zellikle \u00f6nemlidir. M\u00fcmk\u00fcn oldu\u011funda testin gebelik \u00f6ncesinde yap\u0131lmas\u0131 tercih edilir; \u00e7\u00fcnk\u00fc do\u011fal gebelik sonras\u0131 prenatal tan\u0131, IVF\/PGT-M<\/strong>, don\u00f6r gamet kullan\u0131m\u0131 veya belirlenen genetik riskin kabul edilmesi gibi daha geni\u015f \u00fcreme se\u00e7enekleri sa\u011flar.<\/p>

Ancak bir ta\u015f\u0131y\u0131c\u0131n\u0131n belirlenmesi her zaman yaln\u0131zca gelecekteki \u00e7ocu\u011fun sa\u011fl\u0131\u011f\u0131 ile ilgili de\u011fildir. Annenin kendi sa\u011fl\u0131\u011f\u0131 a\u00e7\u0131s\u0131ndan da do\u011frudan \u00f6nem ta\u015f\u0131yabilir.<\/strong><\/p>

Heterozigot ta\u015f\u0131y\u0131c\u0131lar\u0131n her zaman asemptomatik oldu\u011fu y\u00f6n\u00fcndeki geleneksel yakla\u015f\u0131m t\u00fcm genler i\u00e7in ge\u00e7erli de\u011fildir. Geni\u015f kapsaml\u0131 ta\u015f\u0131y\u0131c\u0131l\u0131k panelleriyle de\u011ferlendirilen bireyleri i\u00e7eren b\u00fcy\u00fck bir \u00e7al\u0131\u015fmada, yakla\u015f\u0131k %9’unda<\/strong> ta\u015f\u0131y\u0131c\u0131l\u0131k durumunun ki\u015finin kendi sa\u011fl\u0131\u011f\u0131 a\u00e7\u0131s\u0131ndan potansiyel klinik sonu\u00e7lar\u0131 olabilece\u011fi g\u00f6sterilmi\u015ftir.<\/p>

Obstetrik a\u00e7\u0131dan daha da \u00f6nemlisi, yakla\u015f\u0131k her 40 kad\u0131ndan 1’i<\/strong>, gebelik s\u0131ras\u0131ndaki t\u0131bbi y\u00f6netimini etkileyebilecek bir genetik durumun ta\u015f\u0131y\u0131c\u0131s\u0131 olabilir.<\/p>

Klinik sonu\u00e7lar \u00f6nemli olabilir. Distrofinopatiler (DMD)<\/strong> ile ili\u015fkili patojenik varyantlar\u0131n kad\u0131n ta\u015f\u0131y\u0131c\u0131lar\u0131nda gebelik s\u0131ras\u0131nda dilate kardiyomiyopati ortaya \u00e7\u0131kabilir veya mevcut kardiyomiyopati a\u011f\u0131rla\u015fabilir. Fakt\u00f6r V Leiden<\/strong> tromboemboli riskini art\u0131r\u0131rken, F11, F8 ve F9<\/strong> genlerindeki patojenik varyantlar\u0131n ta\u015f\u0131y\u0131c\u0131lar\u0131nda do\u011fum s\u0131ras\u0131nda kanama riski artabilir.<\/p>

ABCB11\/ABCB4<\/strong> varyantlar\u0131n\u0131n ta\u015f\u0131y\u0131c\u0131lar\u0131nda gebeli\u011fin intrahepatik kolestaz\u0131 riski artarken, kad\u0131n OTC ta\u015f\u0131y\u0131c\u0131lar\u0131nda<\/strong> peripartum d\u00f6nemde ciddi hiperamonyemik krizler geli\u015febilir.\"\"<\/p>

\u00d6zellikle dikkat \u00e7ekici bir di\u011fer ili\u015fki HADHA\/HADHB<\/strong> ile HELLP sendromu ve gebeli\u011fin akut ya\u011fl\u0131 karaci\u011fer hastal\u0131\u011f\u0131 (AFLP) aras\u0131ndad\u0131r. Fet\u00fcs mitokondriyal trifonksiyonel protein eksikli\u011finden etkilenmi\u015fse annede bildirilen HELLP\/AFLP riski %15\u201362’ye<\/strong> ula\u015fabilir ve \u00f6zel biyokimyasal takip ile maternal-fetal t\u0131p izlemi gerekebilir.<\/p>

Baz\u0131 bulgular\u0131n gebelikten ba\u011f\u0131ms\u0131z olarak kad\u0131n\u0131n uzun d\u00f6nem sa\u011fl\u0131\u011f\u0131 a\u00e7\u0131s\u0131ndan da \u00f6nemi vard\u0131r<\/strong>. Bunun karakteristik \u00f6rneklerinden biri FMR1 premutasyonudur<\/strong>. FMR1 premutasyonu, Frajil X ile ili\u015fkili primer over yetmezli\u011fi a\u00e7\u0131s\u0131ndan yakla\u015f\u0131k %20\u201330 risk ile ili\u015fkilidir ve bu nedenle \u00fcreme planlamas\u0131n\u0131 ve fertilitenin korunmas\u0131na y\u00f6nelik g\u00f6r\u00fc\u015fmeleri etkileyebilir.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t

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Dolay\u0131s\u0131yla ECS’nin \u00fc\u00e7l\u00fc bir klinik i\u015flevi<\/strong> vard\u0131r:<\/p>

fet\u00fcs a\u00e7\u0131s\u0131ndan genetik riskin belirlenmesi \u2192 gebelik \u00f6ncesi\/prenatal \u00fcreme se\u00e7eneklerinin sunulmas\u0131 \u2192 annenin kendi sa\u011fl\u0131\u011f\u0131 a\u00e7\u0131s\u0131ndan potansiyel risklerin belirlenmesi.<\/strong><\/p>

Bununla birlikte, tarama panellerinin kontrols\u00fcz bi\u00e7imde geni\u015fletilmesi mutlaka daha iyi bir tarama anlam\u0131na gelmez. Mevcut paneller, i\u00e7erdikleri genlerin say\u0131s\u0131 ve se\u00e7imi a\u00e7\u0131s\u0131ndan b\u00fcy\u00fck farkl\u0131l\u0131klar g\u00f6stermektedir ve kar\u015f\u0131la\u015ft\u0131rmal\u0131 \u00e7al\u0131\u015fmalarda t\u00fcm panellerde ortak olan gen say\u0131s\u0131 olduk\u00e7a azd\u0131r.<\/p>

Bu nedenle ama\u00e7 \u201cne kadar \u00e7ok gen, o kadar iyi\u201d<\/strong> olmamal\u0131d\u0131r. Bunun yerine ciddi ve m\u00fcmk\u00fcn oldu\u011funca klinik a\u00e7\u0131dan m\u00fcdahale edilebilir hastal\u0131klar\u0131 i\u00e7eren, klinik olarak anlaml\u0131 bir panel se\u00e7ilmeli; patojenik ve olas\u0131 patojenik varyantlar<\/strong> do\u011fru \u015fekilde yorumlanmal\u0131 ve klinik \u00f6nemi belirsiz varyantlar (VUS)<\/strong> dikkatle y\u00f6netilmelidir. Ayr\u0131ca ta\u015f\u0131y\u0131c\u0131lardaki klinik bulgular spesifik varyanta ba\u011fl\u0131 olabilece\u011finden yaln\u0131zca genin ad\u0131na bakmak yeterli de\u011fildir; saptanan varyant ve bu varyant\u0131 destekleyen bilimsel veriler de de\u011ferlendirilmelidir.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t

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Klinik sonu\u00e7<\/strong><\/span><\/h1>

Genetik dan\u0131\u015fmanl\u0131k s\u0131ras\u0131nda, her iki e\u015fin ayn\u0131 otozomal resesif hastal\u0131kla ili\u015fkili patojenik varyantlar\u0131 ta\u015f\u0131mas\u0131 durumunda etkilenmi\u015f \u00e7ocuk riskinin her gebelik i\u00e7in genellikle %25<\/strong> oldu\u011fu a\u00e7\u0131klanmal\u0131d\u0131r. X’e ba\u011fl\u0131 hastal\u0131klarda ise risk, spesifik hastal\u0131\u011fa, fet\u00fcs\u00fcn cinsiyetine ve hangi ebeveynin ta\u015f\u0131y\u0131c\u0131 oldu\u011funa ba\u011fl\u0131d\u0131r. Ayr\u0131ca baz\u0131 genetik hastal\u0131klar\u0131n de novo varyantlar<\/strong> nedeniyle ilk kez ortaya \u00e7\u0131kabilece\u011fi ve bu nedenle yaln\u0131zca ebeveyn ta\u015f\u0131y\u0131c\u0131l\u0131k taramas\u0131yla \u00f6ng\u00f6r\u00fclemeyece\u011fi anlat\u0131lmal\u0131d\u0131r.<\/p>

G\u00fcn\u00fcm\u00fcz prenatal bak\u0131m\u0131nda Geni\u015fletilmi\u015f Ta\u015f\u0131y\u0131c\u0131l\u0131k Taramas\u0131 art\u0131k yaln\u0131zca \u201c\u00e7ocu\u011fun resesif bir hastal\u0131k a\u00e7\u0131s\u0131ndan risk ta\u015f\u0131y\u0131p ta\u015f\u0131mad\u0131\u011f\u0131n\u0131 belirleyen bir test\u201d olarak de\u011ferlendirilmemelidir<\/strong>. ECS, fet\u00fcs\u00fcn genetik riskini belirleyebilen, \u00e7iftin \u00fcreme se\u00e7eneklerini y\u00f6nlendirebilen ve klinik a\u00e7\u0131dan anlaml\u0131 bir grup kad\u0131nda annenin gebelik takibini ve y\u00f6netimini de\u011fi\u015ftirebilen<\/strong> bir prekonsepsiyonel ve prenatal t\u0131p arac\u0131d\u0131r.<\/p>

Bu nedenle optimal yakla\u015f\u0131m; ECS’nin tercihen gebelik \u00f6ncesinde yap\u0131lmas\u0131, her iki e\u015fin uygun \u015fekilde de\u011ferlendirilmesi, do\u011fru panelin se\u00e7ilmesi, test \u00f6ncesi ve sonras\u0131 genetik dan\u0131\u015fmanl\u0131k verilmesi ve ta\u015f\u0131y\u0131c\u0131l\u0131k durumunun anne a\u00e7\u0131s\u0131ndan klinik sonu\u00e7lar\u0131 oldu\u011funda gebelik takibinin bireyselle\u015ftirilmesidir<\/strong>.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t

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Ta\u015f\u0131y\u0131c\u0131l\u0131k taramas\u0131n\u0131n (carrier screening) geleneksel amac\u0131 olduk\u00e7a basitti: ayn\u0131 otozomal resesif hastal\u0131\u011f\u0131n klinik olarak sa\u011fl\u0131kl\u0131 iki ta\u015f\u0131y\u0131c\u0131s\u0131n\u0131 veya X’e ba\u011fl\u0131 bir hastal\u0131\u011f\u0131n kad\u0131n ta\u015f\u0131y\u0131c\u0131s\u0131n\u0131 belirlemek ve [\u2026]<\/span><\/p>\n","protected":false},"author":3,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[117,80],"tags":[],"class_list":["post-2237","post","type-post","status-publish","format-standard","hentry","category-genetik","category-subfertilite"],"yoast_head":"\nGeni\u015fletilmi\u015f Ta\u015f\u0131y\u0131c\u0131l\u0131k Taramas\u0131 (ECS): Fet\u00fcs\u00fcn Genetik Riskinden Anne Sa\u011fl\u0131\u011f\u0131na - \u0391\u03bb\u03ad\u03be\u03b1\u03bd\u03b4\u03c1\u03bf\u03c2 \u039c\u03ac\u03b9\u03bd\u03b1\u03c2 MD, PhD<\/title>\n<meta name=\"description\" content=\"Epidemiyolojik olarak \u00e7iftlerin yakla\u015f\u0131k %0,3'\u00fc kistik fibrozis, spinal musk\u00fcler atrofi veya Frajil X sendromundan etkilenmi\u015f bir \u00e7ocuk sahibi olma riski ta\u015f\u0131maktad\u0131r. 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