{"id":722,"date":"2019-10-27T11:29:29","date_gmt":"2019-10-27T11:29:29","guid":{"rendered":"https:\/\/www.lowcostivf.net\/pre-implantation-genetic-diagnosis-pgd\/"},"modified":"2025-01-04T14:36:52","modified_gmt":"2025-01-04T14:36:52","slug":"pre-implantation-genetic-diagnosis-pgd","status":"publish","type":"page","link":"https:\/\/www.lowcostivf.net\/tr\/pre-implantation-genetic-diagnosis-pgd\/","title":{"rendered":"IVF D\u00f6ng\u00fclerinde Preimplantasyon Genetik Testi"},"content":{"rendered":"<div data-elementor-type=\"wp-page\" data-elementor-id=\"722\" class=\"elementor elementor-722\" data-elementor-post-type=\"page\">\n\t\t\t\t\t\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-a33ebcd elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"a33ebcd\" data-element_type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-top-column elementor-element elementor-element-4b5c03e\" data-id=\"4b5c03e\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t\t\t<div class=\"elementor-element elementor-element-a2a6c1b elementor-widget elementor-widget-jnews_element_header_elementor\" data-id=\"a2a6c1b\" data-element_type=\"widget\" data-widget_type=\"jnews_element_header_elementor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t<div  class=\"jeg_block_heading jeg_block_heading_5 jeg_aligncenter jnews_module__0_69f63eedf0a95\">\n                <h3 class=\"jeg_block_title\"><span>\u0130mplantasyon \u00d6ncesi Genetik Testlere Genel Bak\u0131\u015f<\/span><\/h3>\n                <style>.jnews_module__0_69f63eedf0a95.jeg_block_heading_5 .jeg_block_title span, .jnews_module__0_69f63eedf0a95.jeg_block_heading_5 .jeg_block_title i { color: #7a7a7a; }<\/style>\n            <\/div>\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-7c972c8 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"7c972c8\" data-element_type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-50 elementor-top-column elementor-element elementor-element-c320d96\" data-id=\"c320d96\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t\t\t<div class=\"elementor-element elementor-element-6a6a68b elementor-widget elementor-widget-jnews_post_feature_elementor\" data-id=\"6a6a68b\" data-element_type=\"widget\" data-widget_type=\"jnews_post_feature_elementor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t<div class=\"jeg_featured featured_image\"><a href=\"https:\/\/www.lowcostivf.net\/wp-content\/uploads\/2019\/11\/Pre-Implantation-Genetic-Diagnosis-Pgd.png\"><div class=\"thumbnail-container animate-lazy\" style=\"padding-bottom:50%\"><img loading=\"lazy\" decoding=\"async\" width=\"750\" height=\"375\" src=\"data:image\/gif;base64,R0lGODlhAQABAIAAAP\/\/\/wAAACH5BAEAAAAALAAAAAABAAEAAAICRAEAOw==\" class=\"attachment-jnews-750x375 size-jnews-750x375 lazyload wp-post-image\" alt=\"IVF D\u00f6ng\u00fclerinde Preimplantasyon Genetik Testi\" sizes=\"(max-width: 750px) 100vw, 750px\" data-src=\"https:\/\/www.lowcostivf.net\/wp-content\/uploads\/2019\/11\/Pre-Implantation-Genetic-Diagnosis-Pgd-750x375.png\" data-srcset=\"https:\/\/www.lowcostivf.net\/wp-content\/uploads\/2019\/11\/Pre-Implantation-Genetic-Diagnosis-Pgd-750x375.png 750w, https:\/\/www.lowcostivf.net\/wp-content\/uploads\/2019\/11\/Pre-Implantation-Genetic-Diagnosis-Pgd-300x150.png 300w, https:\/\/www.lowcostivf.net\/wp-content\/uploads\/2019\/11\/Pre-Implantation-Genetic-Diagnosis-Pgd-768x384.png 768w, https:\/\/www.lowcostivf.net\/wp-content\/uploads\/2019\/11\/Pre-Implantation-Genetic-Diagnosis-Pgd-1024x512.png 1024w, https:\/\/www.lowcostivf.net\/wp-content\/uploads\/2019\/11\/Pre-Implantation-Genetic-Diagnosis-Pgd-360x180.png 360w, https:\/\/www.lowcostivf.net\/wp-content\/uploads\/2019\/11\/Pre-Implantation-Genetic-Diagnosis-Pgd.png 1140w\" data-sizes=\"auto\" data-expand=\"700\" \/><\/div><\/a><\/div>\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t<div class=\"elementor-column elementor-col-50 elementor-top-column elementor-element elementor-element-f04b06c\" data-id=\"f04b06c\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t\t\t<div class=\"elementor-element elementor-element-e34ab43 related_topics elementor-widget elementor-widget-text-editor\" data-id=\"e34ab43\" data-element_type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<p style=\"color: white !important;\">\u0130lgili konular<\/p>\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-4a2e36d elementor-align-justify elementor-button-info elementor-widget elementor-widget-button\" data-id=\"4a2e36d\" data-element_type=\"widget\" data-widget_type=\"button.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<div class=\"elementor-button-wrapper\">\n\t\t\t<a class=\"elementor-button elementor-button-link elementor-size-sm\" href=\"\/tr\/gender-selection-pgd-in-cyprus\/\">\n\t\t\t\t\t\t<span class=\"elementor-button-content-wrapper\">\n\t\t\t\t\t\t<span class=\"elementor-button-icon elementor-align-icon-right\">\n\t\t\t\t<i aria-hidden=\"true\" class=\"fas fa-angle-double-right\"><\/i>\t\t\t<\/span>\n\t\t\t\t\t\t<span class=\"elementor-button-text\">T\u00fcp Bebek Yoluyla Cinsiyet Se\u00e7imi<\/span>\n\t\t<\/span>\n\t\t\t\t\t<\/a>\n\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-82621ec elementor-align-justify elementor-button-info elementor-widget elementor-widget-button\" data-id=\"82621ec\" data-element_type=\"widget\" data-widget_type=\"button.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<div class=\"elementor-button-wrapper\">\n\t\t\t<a class=\"elementor-button elementor-button-link elementor-size-sm\" href=\"\/tr\/advanced-sperm-selection\/\">\n\t\t\t\t\t\t<span class=\"elementor-button-content-wrapper\">\n\t\t\t\t\t\t<span class=\"elementor-button-icon elementor-align-icon-right\">\n\t\t\t\t<i aria-hidden=\"true\" class=\"fas fa-angle-double-right\"><\/i>\t\t\t<\/span>\n\t\t\t\t\t\t<span class=\"elementor-button-text\">DNA fragmantasyonu varl\u0131\u011f\u0131nda Sperm Se\u00e7imi i\u00e7in Mikroak\u0131\u015fkan \u00c7ip<\/span>\n\t\t<\/span>\n\t\t\t\t\t<\/a>\n\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-d253ab8 elementor-align-justify elementor-button-info elementor-widget elementor-widget-button\" data-id=\"d253ab8\" data-element_type=\"widget\" data-widget_type=\"button.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<div class=\"elementor-button-wrapper\">\n\t\t\t<a class=\"elementor-button elementor-button-link elementor-size-sm\" href=\"\/tr\/miscarriages\/\">\n\t\t\t\t\t\t<span class=\"elementor-button-content-wrapper\">\n\t\t\t\t\t\t<span class=\"elementor-button-icon elementor-align-icon-right\">\n\t\t\t\t<i aria-hidden=\"true\" class=\"fas fa-angle-double-right\"><\/i>\t\t\t<\/span>\n\t\t\t\t\t\t<span class=\"elementor-button-text\">Tekrarlayan D\u00fc\u015f\u00fcklerin Y\u00f6netimi<\/span>\n\t\t<\/span>\n\t\t\t\t\t<\/a>\n\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-740fc0c elementor-align-justify elementor-button-info elementor-widget elementor-widget-button\" data-id=\"740fc0c\" data-element_type=\"widget\" data-widget_type=\"button.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<div class=\"elementor-button-wrapper\">\n\t\t\t<a class=\"elementor-button elementor-button-link elementor-size-sm\" href=\"\/tr\/ivf-failures\/\">\n\t\t\t\t\t\t<span class=\"elementor-button-content-wrapper\">\n\t\t\t\t\t\t<span class=\"elementor-button-icon elementor-align-icon-right\">\n\t\t\t\t<i aria-hidden=\"true\" class=\"fas fa-angle-double-right\"><\/i>\t\t\t<\/span>\n\t\t\t\t\t\t<span class=\"elementor-button-text\">Tekrarlayan T\u00fcp Bebek Ba\u015far\u0131s\u0131zl\u0131klar\u0131n\u0131n Y\u00f6netimi<\/span>\n\t\t<\/span>\n\t\t\t\t\t<\/a>\n\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-fa44c63 elementor-align-justify elementor-button-info elementor-widget elementor-widget-button\" data-id=\"fa44c63\" data-element_type=\"widget\" data-widget_type=\"button.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<div class=\"elementor-button-wrapper\">\n\t\t\t<a class=\"elementor-button elementor-button-link elementor-size-sm\" href=\"\/tr\/sickle-cell-disease-prevention\/\">\n\t\t\t\t\t\t<span class=\"elementor-button-content-wrapper\">\n\t\t\t\t\t\t<span class=\"elementor-button-icon elementor-align-icon-right\">\n\t\t\t\t<i aria-hidden=\"true\" class=\"fas fa-angle-double-right\"><\/i>\t\t\t<\/span>\n\t\t\t\t\t\t<span class=\"elementor-button-text\">Orak H\u00fccre Hastal\u0131\u011f\u0131 \u00d6nleme<\/span>\n\t\t<\/span>\n\t\t\t\t\t<\/a>\n\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-13ae1aa9 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"13ae1aa9\" data-element_type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-top-column elementor-element elementor-element-60cb6cd\" data-id=\"60cb6cd\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t\t\t<div class=\"elementor-element elementor-element-7d695ec0 elementor-widget__width-initial elementor-widget elementor-widget-text-editor\" data-id=\"7d695ec0\" data-element_type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<p>Preimplantasyon Genetik Test, \u00e7ocuklar\u0131na genetik bir hastal\u0131k aktarma riski y\u00fcksek oldu\u011fu bilinen \u00e7iftler i\u00e7in koryon villus \u00f6rneklemesi (CVS) ve amniyosentez gibi do\u011fum \u00f6ncesi genetik test y\u00f6ntemlerine alternatif sunan, ayn\u0131 zamanda tekrarlayan t\u00fcp bebek ba\u015far\u0131s\u0131zl\u0131\u011f\u0131 ve tekrarlayan d\u00fc\u015f\u00fckleri olan hastalar i\u00e7in bir test platformu sunan yeni nesil bir embriyo test y\u00f6ntemidir.<\/p>\n<p>Do\u011fum \u00f6ncesi genetik test y\u00f6ntemleri yaln\u0131zca gebelik s\u0131ras\u0131nda belirli bir zamanda kullan\u0131labilirken, PGT gebelik \u00f6ncesinde embriyolar \u00fczerinde genetik test imkan\u0131 sunarak genetik sorunlar\u0131 olan bir yavruya gebe kalma olas\u0131l\u0131\u011f\u0131n\u0131 ortadan kald\u0131r\u0131r. PGD\/PGS&#039;nin k\u00f6kenleri, Edwards ve Gardner&#039;\u0131n tav\u015fan blastosist seks kromatinini euchrysine 2GNX ile boyayarak tav\u015fan embriyolar\u0131 \u00fczerinde ilk mikrocerrahi embriyo biyopsisini ger\u00e7ekle\u015ftirdi\u011fi 1968 y\u0131l\u0131na dayan\u0131r. Ancak, embriyonun cinsiyetini cinsiyete ba\u011fl\u0131 otozomal resesif bir bozukluk i\u00e7in taramak amac\u0131yla ilk PGT vakas\u0131 1990&#039;lar\u0131n ba\u015f\u0131na kadar ger\u00e7ekle\u015ftirilmemi\u015ftir.<\/p>\n<p>\u0130mplantasyon \u00f6ncesi genetik test (PGT), yard\u0131mc\u0131 \u00fcreme teknolojisinde (ART), \u00f6zellikle t\u00fcp bebek tedavisinde (IVF) kritik bir ilerlemedir. PGT, rahim transferinden \u00f6nce embriyolar\u0131n genetik analizini i\u00e7erir ve implantasyon oranlar\u0131n\u0131 art\u0131rmay\u0131, d\u00fc\u015f\u00fck riskini azaltmay\u0131 ve genetik bozukluklar\u0131n bula\u015fmas\u0131n\u0131 \u00f6nlemeyi ama\u00e7lar. Teknoloji son birka\u00e7 on y\u0131lda \u00f6nemli \u00f6l\u00e7\u00fcde geli\u015fmi\u015ftir ve \u00fc\u00e7 ana t\u00fcre ayr\u0131l\u0131r: <b>PGT-A<\/b> (aneuploidi taramas\u0131 i\u00e7in), <b>PGT-M<\/b> (monojenik veya tek gen bozukluklar\u0131 i\u00e7in) ve <b>PGT-SR<\/b> (yap\u0131sal yeniden d\u00fczenlemeler i\u00e7in). A\u015fa\u011f\u0131da, farkl\u0131 PGT tipleri, uygun olduklar\u0131 klinik senaryolar ve genel etkinlikleri hakk\u0131nda bilgi bulacaks\u0131n\u0131z.<\/p>\n<h3>Preimplantasyon Genetik Testi T\u00fcrleri<\/h3>\n<p>1<b>.<u> PGT-A (Aneuploidiye Y\u00f6nelik Preimplantasyon Genetik Testi)<br><\/u><\/b>PGT-A, embriyolar\u0131 say\u0131sal kromozomal anormallikler (aneuploidi) a\u00e7\u0131s\u0131ndan tarar. Aneuploidiler, implantasyon ba\u015far\u0131s\u0131zl\u0131\u011f\u0131, d\u00fc\u015f\u00fck ve Down sendromu (trizomi 21), Patau sendromu (trizomi 13) ve Edwards sendromu (trizomi 18) gibi kromozomal bozukluklar\u0131n \u00f6nde gelen nedenidir.<\/p>\n<p><strong>Endikasyonlar:<br><\/strong>\u0130leri anne ya\u015f\u0131 (&gt;35 ya\u015f), ya\u015fa ba\u011fl\u0131 kromozomal ayr\u0131\u015fma hatalar\u0131 nedeniyle aneuploidinin artt\u0131\u011f\u0131 durumlar.<br>Tekrarlayan implantasyon ba\u015far\u0131s\u0131zl\u0131\u011f\u0131 veya tekrarlayan t\u00fcp bebek ba\u015far\u0131s\u0131zl\u0131klar\u0131.<br>Tekrarlayan gebelik kayb\u0131 (TPK), s\u0131kl\u0131kla embriyolardaki kromozomal anormalliklerle ili\u015fkilidir.<br>Erkek fakt\u00f6r\u00fc k\u0131s\u0131rl\u0131\u011f\u0131, baz\u0131 sperm anormalliklerinde aneuploidlik riski artabilir.<br>Aile i\u00e7i dengeyi sa\u011flamak amac\u0131yla cinsiyet se\u00e7imi<\/p>\n<p><b>\u0130\u015flem:<br><\/b>Embriyolar biyopsi yap\u0131larak (genellikle blastosist a\u015famas\u0131nda) birka\u00e7 trofektoderm h\u00fccresi \u00e7\u0131kar\u0131l\u0131r ve bunlar daha sonra tedavi amac\u0131na ba\u011fl\u0131 olarak FISH veya yeni nesil dizileme (NGS) gibi teknikler kullan\u0131larak analiz edilir. Cinsiyet se\u00e7iminin birincil odak noktas\u0131 oldu\u011fu ve genetik hastal\u0131k ge\u00e7mi\u015finin bulunmad\u0131\u011f\u0131 durumlarda, basit bir FISH analizi, 13, 18 ve 21. kromozomlardaki en yayg\u0131n genetik bozukluklar\u0131n yan\u0131 s\u0131ra X ve Y&#039;yi test eden temel bir 5 kromozom paneli sa\u011flayabilir.<\/p>\n<p><b>Ba\u015far\u0131 ve S\u0131n\u0131rlamalar:<br><\/b>PGT-A&#039;n\u0131n ya\u015fl\u0131 kad\u0131nlar ve daha \u00f6nce ba\u015far\u0131s\u0131z d\u00f6ng\u00fcleri olanlar gibi belirli pop\u00fclasyonlarda canl\u0131 do\u011fum oranlar\u0131n\u0131 iyile\u015ftirdi\u011fi g\u00f6sterilmi\u015ftir, ancak evrensel uygulamas\u0131 hala tart\u0131\u015fmal\u0131d\u0131r. Baz\u0131 \u00e7al\u0131\u015fmalar iyi prognoza sahip gen\u00e7 hastalarda \u00f6nemli bir fayda olmad\u0131\u011f\u0131n\u0131 \u00f6ne s\u00fcrmektedir (Munn\u00e9 vd., 2019). Dahas\u0131, mozaik\u00e7ilik (embriyodaki baz\u0131 h\u00fccrelerin normal, di\u011ferlerinin aneuploid olmas\u0131) yorumlamay\u0131 ve sonu\u00e7lar\u0131 karma\u015f\u0131kla\u015ft\u0131rabilir. Bir\u00e7ok durumda, mozaik olarak de\u011ferlendirilen embriyolar mozai\u011fi ortadan kald\u0131rabilir ve genetik olarak sa\u011fl\u0131kl\u0131 ve \u00f6ploid embriyolara d\u00f6n\u00fc\u015febilir. PGT-A gen\u00e7 ve sa\u011fl\u0131kl\u0131 pop\u00fclasyonlarda yap\u0131ld\u0131\u011f\u0131nda, bu potansiyel olarak genetik olarak sa\u011fl\u0131kl\u0131 insanlara d\u00f6n\u00fc\u015febilecek embriyolar\u0131n at\u0131lmas\u0131na neden olabilir. Genel olarak, bu, aile dengeleme ama\u00e7lar\u0131 i\u00e7in cinsiyet se\u00e7imini tercih eden hastalar, tekrarlayan IVF ba\u015far\u0131s\u0131zl\u0131klar\u0131 veya tekrarlayan d\u00fc\u015f\u00fckleri olan hastalar i\u00e7in uygun bir se\u00e7enektir.<\/p>\n<p>2<b>.<u> PGT-M (Monogenik Bozukluklar \u0130\u00e7in \u0130mplantasyon \u00d6ncesi Genetik Test)<br><\/u><\/b>PGT-M, tek gen bozukluklar\u0131 (\u00f6rne\u011fin kistik fibroz, orak h\u00fccreli anemi, Huntington hastal\u0131\u011f\u0131) ta\u015f\u0131yan embriyolar\u0131 belirler. Bilinen bir genetik mutasyon ta\u015f\u0131y\u0131c\u0131s\u0131 olan veya belirli bir genetik rahats\u0131zl\u0131\u011f\u0131n aile \u00f6yk\u00fcs\u00fc olan \u00e7iftler bu testten faydalan\u0131r.<\/p>\n<p><strong>Endikasyonlar:<br><\/strong>\u2013 Otozomal resesif veya dominant ge\u00e7i\u015fli hastal\u0131klara y\u00f6nelik ta\u015f\u0131y\u0131c\u0131 taramas\u0131.<br>\u2013 X\u2019e ba\u011fl\u0131 hastal\u0131klar\u0131n (\u00f6rne\u011fin Duchenne kas distrofisi, hemofili) \u00f6nlenmesi.<br>\u2013 Partnerlerinden birinde veya her ikisinde bilinen patojenik varyant bulunan \u00e7iftler.<\/p>\n<p><\/p>\n<p><strong>\u0130\u015flem:<\/strong><br>Bu, belirli mutasyonu tespit etmek i\u00e7in polimeraz zincir reaksiyonu (PCR) veya NGS gibi teknikler kullan\u0131larak \u00f6zelle\u015ftirilmi\u015f testler i\u00e7erir. Genellikle, sonu\u00e7lar\u0131 do\u011frulamak ve yanl\u0131\u015f tan\u0131 riskini azaltmak i\u00e7in mutasyon tespiti ile birlikte ba\u011flant\u0131 analizi yap\u0131l\u0131r. Bu, PGT-M ile test yapt\u0131rmak isteyen \u00e7iftin, \u00f6zel bir test s\u00fcreci i\u00e7in \u00f6zel bir test probu tasarlanabilmesi i\u00e7in belirli gen mutasyonlar\u0131n\u0131 g\u00f6steren ayr\u0131nt\u0131l\u0131 bir genetik teste ihtiya\u00e7 duyaca\u011f\u0131 anlam\u0131na gelir. Ayr\u0131nt\u0131l\u0131 bir genetik test raporu olmayan hastalardan genellikle K\u0131br\u0131s&#039;a iki kez gelmeleri istenir - birincisi kapsaml\u0131 bir mutasyon testinin yap\u0131lmas\u0131 i\u00e7in kan \u00f6rne\u011fi b\u0131rakmak i\u00e7in, ard\u0131ndan \u00f6zel olarak bir test probu yap\u0131labilir ve ikincisi IVF s\u00fcreci i\u00e7in.<\/p>\n<p><strong>Ba\u015far\u0131 ve S\u0131n\u0131rlamalar:<br><\/strong>PGT-M, akredite laboratuvarlarda ger\u00e7ekle\u015ftirildi\u011finde genetik durumlar\u0131n bula\u015fmas\u0131n\u0131 \u00f6nlemede yakla\u015f\u0131k \u201399% do\u011fruluk sa\u011flar (Kuliev ve ark., 2020). Ancak zorluklar aras\u0131nda \u00e7iftin ayr\u0131nt\u0131l\u0131 genetik \u00e7al\u0131\u015fmas\u0131na ihtiya\u00e7 duyulmas\u0131 ve test i\u00e7in yeterli embriyo bulunmamas\u0131 olas\u0131l\u0131\u011f\u0131 yer al\u0131r. Azalm\u0131\u015f yumurtal\u0131k rezervlerine sahip ileri ya\u015f grubundaki kad\u0131nlar, elde edilecek embriyo say\u0131s\u0131n\u0131 en \u00fcst d\u00fczeye \u00e7\u0131karmak i\u00e7in bazen birden fazla yumurta toplama turundan faydalanabilir. Bu gibi durumlarda, her iki gezi s\u0131ras\u0131nda bir yumurta toplama i\u015flemi planlanacakt\u0131r.<\/p>\n<p><b><br>3<u>. PGT-SR (Yap\u0131sal Yeniden D\u00fczenlemeler \u0130\u00e7in Preimplantasyon Genetik Testi)<\/u><\/b><br>PGT-SR, translokasyonlar, inversiyonlar veya duplikasyonlar gibi kromozomal yap\u0131sal anormallikleri tespit etmeyi ama\u00e7lar. Bu t\u00fcr yeniden d\u00fczenlemeler dengesiz embriyolara yol a\u00e7arak d\u00fc\u015f\u00fck veya konjenital anormalliklere neden olabilir. Dengeli translokasyonlar\u0131 olan hastalar genellikle kendilerinde herhangi bir semptom g\u00f6stermezler. Ancak, hamile kalmaya \u00e7al\u0131\u015ft\u0131klar\u0131nda, ortaya \u00e7\u0131kan embriyolar\u0131n baz\u0131lar\u0131nda \u00f6l\u00fcmc\u00fcl kromozomal aberasyonlar olur ve bu da ba\u015far\u0131s\u0131z gebeliklere veya tekrarlayan d\u00fc\u015f\u00fcklere neden olur. Robertsonian veya kar\u015f\u0131l\u0131kl\u0131 translokasyonlar gibi dengeli kromozomal yeniden d\u00fczenlemelere sahip bireyler, d\u00fc\u015f\u00fck veya geli\u015fimsel bozukluklara yol a\u00e7mayacak dengeli embriyolar\u0131n se\u00e7imini sa\u011flamak i\u00e7in genellikle PGT-SR&#039;ye tabi tutulurlar (Munn\u00e9 ve ark., 2020).<\/p>\n<p><strong>Endikasyonlar:<br><\/strong>Dengeli kromozomal translokasyonlar\u0131n ta\u015f\u0131y\u0131c\u0131lar\u0131 (\u00f6rne\u011fin, Robertsonian veya kar\u015f\u0131l\u0131kl\u0131)<br>Tekrarlayan d\u00fc\u015f\u00fck \u00f6yk\u00fcs\u00fc olan veya yap\u0131sal kromozomal anomalisi olan \u00e7ocuklar\u0131 olan \u00e7iftler.<\/p>\n<p><strong>\u0130\u015flem:<br><\/strong>PGT-SR, yap\u0131sal anormallikleri tespit etmek i\u00e7in NGS gibi y\u00f6ntemler kullan\u0131r ve esasen PGT-A ile benzer bir test prosed\u00fcr\u00fc kullan\u0131r.<\/p>\n<p><strong>Ba\u015far\u0131 ve S\u0131n\u0131rlamalar:<br><\/strong>PGT-SR, translokasyon ta\u015f\u0131y\u0131c\u0131lar\u0131nda d\u00fc\u015f\u00fck riskini \u00f6nemli \u00f6l\u00e7\u00fcde azalt\u0131r; \u00e7al\u0131\u015fmalar, tedavi edilmemi\u015f d\u00f6ng\u00fclerdeki daha d\u00fc\u015f\u00fck oranlara k\u0131yasla 50\u201370% klinik gebelik oranlar\u0131 bildirmektedir (Collins ve ark., 2021). Ancak, bu yakla\u015f\u0131m anormal sonu\u00e7 riskini tamamen ortadan kald\u0131rmayabilir, \u00e7\u00fcnk\u00fc test yaln\u0131zca kromozomal yap\u0131y\u0131 de\u011ferlendirir ve gen i\u015flevini de\u011ferlendirmez. Ek genetik sorunlar varsa, bu test bunlar\u0131 ele almayacakt\u0131r. Yine de, bunun \u00e7ok d\u00fc\u015f\u00fck bir s\u0131kl\u0131\u011f\u0131 olacakt\u0131r.<\/p>\n<h4><strong><span style=\"text-decoration: underline;\">PGT&#039;nin Etkinli\u011fi ve Klinik Etkisi<\/span><\/strong><\/h4>\n<p><strong><br>Yerle\u015fme Oranlar\u0131 ve Canl\u0131 Do\u011fum Oranlar\u0131<br><\/strong>PGT, \u00f6zellikle PGT-A, 35 ya\u015f \u00fcst\u00fc kad\u0131nlar veya tekrarlayan implantasyon ba\u015far\u0131s\u0131zl\u0131\u011f\u0131 olanlar gibi belirli pop\u00fclasyonlarda implantasyon oranlar\u0131n\u0131 ve canl\u0131 do\u011fum oranlar\u0131n\u0131 iyile\u015ftirmede umut vadetmektedir. PGT-M ve PGT-SR i\u00e7in birincil ba\u015far\u0131 \u00f6l\u00e7\u00fcs\u00fc, yavruda genetik veya kromozomal durumlar\u0131n \u00f6nlenmesidir ve \u00e7ok say\u0131da \u00e7al\u0131\u015fmada y\u00fcksek do\u011fruluk oranlar\u0131 bildirilmi\u015ftir (ASRM Uygulama Komitesi, 2020).<\/p>\n<p><strong>D\u00fc\u015f\u00fck Oranlar\u0131nda Azalma<br><\/strong>PGT-A, \u00f6zellikle tekrarlayan gebelik kayb\u0131 olan hastalarda d\u00fc\u015f\u00fck oranlar\u0131n\u0131n daha d\u00fc\u015f\u00fck olmas\u0131yla ili\u015fkilendirilmi\u015ftir. Aneuploid embriyolar\u0131n tespiti ve d\u0131\u015flanmas\u0131, bu vakalarda gebelik kayb\u0131n\u0131 \u00f6nemli \u00f6l\u00e7\u00fcde azalt\u0131r. \u00d6zellikle kromozomal anormallikler nedeniyle tekrarlayan d\u00fc\u015f\u00fck \u00f6yk\u00fcs\u00fc olan \u00e7iftler, kromozomal olarak normal embriyolar\u0131 se\u00e7erek ba\u015far\u0131l\u0131 bir gebelik olas\u0131l\u0131\u011f\u0131n\u0131 art\u0131rmak i\u00e7in PGT&#039;den faydalan\u0131r (Carp, 2018).<\/p>\n<p><b>Erkek Fakt\u00f6r\u00fc K\u0131s\u0131rl\u0131\u011f\u0131<\/b>: \u015eiddetli erkek k\u0131s\u0131rl\u0131\u011f\u0131 vakalar\u0131 embriyolarda kromozomal anormallik riskini art\u0131rabilece\u011finden, bu riski azaltmak i\u00e7in bu t\u00fcr vakalarda PGT-A&#039;n\u0131n \u00f6nerilmesi \u00f6nerilir (Kushnir ve ark., 2016).<\/p>\n<h4>\u0130mplantasyon \u00d6ncesi Genetik Test Prosed\u00fcr\u00fc<br><\/h4><p>PGT yaln\u0131zca IVF (T\u00fcp Bebek) d\u00f6ng\u00fcs\u00fcn\u00fcn bir par\u00e7as\u0131 olarak sunulabilir \u00e7\u00fcnk\u00fc bu, embriyolar\u0131n biyopsi ve test prosed\u00fcrlerinden ge\u00e7mek \u00fczere laboratuvar ortam\u0131nda olu\u015fturulabilmesinin tek yoludur. PGT s\u00fcreci, IVF d\u00f6ng\u00fcs\u00fcnde birka\u00e7 temel ad\u0131m\u0131 i\u00e7erir:<\/p>\n<p>1. <b>Yumurtal\u0131k Uyar\u0131m\u0131 ve Yumurta Toplama<\/b>: \u00d6ncelikle, kad\u0131n birden fazla yumurta \u00fcretmek i\u00e7in hormonal ila\u00e7larla yumurtal\u0131k stim\u00fclasyonuna tabi tutulur. Daha sonra bu yumurtalar, &#039;oosit toplama&#039; ad\u0131 verilen k\u00fc\u00e7\u00fck bir cerrahi i\u015flemle yumurtal\u0131klardan al\u0131n\u0131r (Amerikan \u00dcreme T\u0131bb\u0131 Derne\u011fi Uygulama Komitesi, 2018). Yumurtal\u0131k fonksiyonu \u00e7ok azalm\u0131\u015f kad\u0131nlar\u0131n, test edilecek yeterli say\u0131da embriyo elde etmek i\u00e7in birden fazla yumurta toplama i\u015flemine tabi tutulmas\u0131 gerekebilir. Unutmay\u0131n ki embriyo say\u0131s\u0131 artt\u0131k\u00e7a, transfer i\u00e7in canl\u0131 embriyo elde etme olas\u0131l\u0131\u011f\u0131 da artar.<\/p>\n<p>2. <b>Fertilizasyon ve Embriyo K\u00fclt\u00fcr\u00fc<\/b>: Al\u0131nan yumurtalar laboratuvarda spermle d\u00f6llenir, genellikle her yumurtaya yaln\u0131zca bir spermin girmesini sa\u011flamak i\u00e7in intrasitoplazmik sperm enjeksiyonu (ICSI) kullan\u0131l\u0131r. Bu i\u015flem, aksi takdirde genetik test sonu\u00e7lar\u0131n\u0131 etkileyebilecek ek sperm h\u00fccrelerinden kaynaklanan kontaminasyon riskini en aza indirir (Scott ve di\u011ferleri, 2013).<\/p>\n<p>3. <b>Embriyo Biyopsisi<\/b>: D\u00f6llenmeden sonraki be\u015finci g\u00fcnde embriyolar blastosist a\u015famas\u0131na ula\u015f\u0131r. Bu noktada, genetik test i\u00e7in embriyonun d\u0131\u015f tabakas\u0131ndan (trofektoderm) birka\u00e7 h\u00fccre dikkatlice \u00e7\u0131kar\u0131l\u0131r. Bu biyopsi prosed\u00fcr\u00fc, yaln\u0131zca birka\u00e7 h\u00fccre \u00e7\u0131kar\u0131ld\u0131\u011f\u0131 i\u00e7in embriyonun geli\u015fimine veya implantasyon potansiyeline zarar vermiyor gibi g\u00f6r\u00fcnmektedir (Benoff ve di\u011ferleri, 1999).<\/p>\n<p>4. <b>Genetik Analiz:<\/b> Biyopsi yap\u0131lan h\u00fccreler, yeni nesil dizileme (NGS), floresan in situ hibridizasyon (FISH) veya polimeraz zincir reaksiyonu (PCR) gibi teknikler kullan\u0131larak genetik analize tabi tutulur. NGS, kromozomal anormallikleri tespit etmedeki y\u00fcksek do\u011frulu\u011fu nedeniyle PGT-A i\u00e7in tercih edilen y\u00f6ntem haline gelmi\u015ftir (Franasiak ve ark., 2014).<\/p>\n<p>5. <b>Embriyo transferi<\/b>: Genetik test sonu\u00e7lar\u0131 mevcut oldu\u011funda, hedeflenen genetik anormalliklerden veya kromozomal sorunlardan ar\u0131nm\u0131\u015f olarak tan\u0131mlanan embriyolar kad\u0131n\u0131n rahmine transfer edilmek \u00fczere se\u00e7ilir. Test genellikle birka\u00e7 g\u00fcn s\u00fcrer. Bu, embriyolar\u0131n genellikle IVF prosed\u00fcr\u00fcyle ayn\u0131 d\u00f6ng\u00fc i\u00e7inde transfer edilmedi\u011fi anlam\u0131na gelir. Normalde, embriyo transferi 5. g\u00fcn blastosist olu\u015fumu a\u015famas\u0131nda ger\u00e7ekle\u015fir (yakla\u015f\u0131k olarak kad\u0131n\u0131n adet d\u00f6ng\u00fcs\u00fcn\u00fcn 20. g\u00fcn\u00fc). Genetik test birka\u00e7 g\u00fcn s\u00fcrd\u00fc\u011f\u00fcnde, bu embriyo transfer penceresi ka\u00e7\u0131r\u0131l\u0131r, yani hastan\u0131n bir sonraki adet d\u00f6ng\u00fcs\u00fcnde embriyo transferi i\u00e7in haz\u0131rlanmas\u0131 gerekir. Bu, biyopsi i\u015fleminden sonra embriyolar\u0131n dondurulmas\u0131yla yap\u0131l\u0131r.<\/p>\n<p>\u0130mplantasyon \u00f6ncesi genetik test, \u00fcreme t\u0131bb\u0131nda d\u00f6n\u00fc\u015ft\u00fcr\u00fcc\u00fc bir ara\u00e7t\u0131r ve IVF d\u00f6ng\u00fclerinde daha iyi sonu\u00e7lar ve genetik hastal\u0131klar\u0131n \u00f6nlenmesini sa\u011flar. Her PGT t\u00fcr\u00fc (PGT-A, PGT-M ve PGT-SR) farkl\u0131 endikasyonlara ve faydalara sahiptir ve bu da kullan\u0131m\u0131n\u0131 bireysel hasta ko\u015fullar\u0131na g\u00f6re uyarlamay\u0131 gerekli k\u0131lar.<\/p>\n<p>PGT protokollerimiz ve uygulanan IVF prosed\u00fcrlerimiz hakk\u0131nda daha fazla bilgi edinmek i\u00e7in ileti\u015fim formumuzu kullan\u0131n. <a href=\"https:\/\/www.lowcostivf.net\/tr\/contact\/\">bize Ula\u015f\u0131n<\/a>.<\/p>\n<p><b><br>Referanslar<\/b><\/p>\n<p>Benoff, S., Hurley, IR, Cooper, GW, Mandel, FS, Rosenfeld, DL ve Hershlag, A. (1999). Say\u0131sal doz telafili in vitro fertilizasyon tohumlamalar\u0131 y\u00fcksek d\u00f6llenme ve gebelik oranlar\u0131 sa\u011flar. Fertilite ve K\u0131s\u0131rl\u0131k, 71(6), 1067\u20131072. https:\/\/doi.org\/10.1016\/s0015-0282(99)00311-8.<\/p>\n<p>Carp, H. (2018). \u201cTekrarlayan Gebelik Kayb\u0131: Nedenler, Tart\u0131\u015fmalar ve Tedavi.\u201d Best Practice &amp; Research Klinik Obstetrik ve Jinekoloji, 53, 3-12. doi:10.1016\/j.bpobgyn.2018.08.005.<\/p>\n<p>Collins, SC, Zegers-Hochschild, F. ve Cobo, A. (2021). Yap\u0131sal yeniden d\u00fczenlemeler i\u00e7in preimplantasyon genetik testi: Ba\u015far\u0131 oranlar\u0131 ve zorluklar. Do\u011furganl\u0131k ve K\u0131s\u0131rl\u0131k, 115(5), 1201\u20131210.<\/p>\n<p>Fragouli, E., Alfarawati, S., Spath, K., &amp; Wells, D. (2017). \u201c\u0130nsan IVF Uygulamas\u0131nda Embriyo Aneuploidisinin K\u00f6keni ve Etkisi.\u201d Sitogenetik ve Genom Ara\u015ft\u0131rmas\u0131, 150(3-4), 217-227. doi:10.1159\/000478888.<\/p>\n<p>Franasiak, JM, ve di\u011ferleri (2014). \u201cAneuploidinin Pre-implantasyon Genetik Taramas\u0131 i\u00e7in Yeni Nesil Dizileme, Dizi Kar\u015f\u0131la\u015ft\u0131rmal\u0131 Genomik Hibridizasyonuna Alternatif Olarak.\u201d Molek\u00fcler Sitogenetik, 7, 19. doi:10.1186\/1755-8166-7-19.<\/p>\n<p>Frankel, MS ve Chapman, AR (2018). \u201c\u00c7ocuklarda Genetik Test ve Taramada Etik ve Politika Sorunlar\u0131.\u201d Genetik T\u0131pta, 20(4), 435-441. doi:10.1038\/gim.2017.210.<\/p>\n<p>Geraedts, J. ve Sermon, K. (2016). \u201c\u0130mplantasyon \u00d6ncesi Genetik Test: Son Geli\u015fmeler ve Gelecek Beklentileri.\u201d \u0130nsan \u00dcreme G\u00fcncellemesi, 22(4), 402-405. doi:10.1093\/humupd\/dmw007.<\/p>\n<p>Greco, E., ve di\u011ferleri (2015). \u201cZigotun \u00c7ift B\u00f6l\u00fcnmesi: Embriyo Geli\u015fiminin Yeni Bir G\u00f6stergesi.\u201d Fertilite ve K\u0131s\u0131rl\u0131k, 103(6), 1290-1296. doi:10.1016\/j.fertnstert.2015.02.025.<\/p>\n<p>Kuliev, A., Rechitsky, S. ve Tur-Kaspa, I. (2020). Monogenik bozukluklar i\u00e7in preimplantasyon genetik testi: Yirmi be\u015f y\u0131ll\u0131k deneyim. \u00c7evrimi\u00e7i \u00dcreme Biyomedikal, 41(3), 379\u2013390.<\/p>\n<p>Kushnir, VA, Solouki, S., Darmon, SK, Barad, DH, &amp; Gleicher, N. (2016). Kronik endometritli kad\u0131nlarda sistemik inflamasyon ve otoimm\u00fcnite. Amerikan \u00dcreme \u0130mm\u00fcnolojisi Dergisi, 75(6), 672\u2013677. https:\/\/doi.org\/10.1111\/aji.12508<\/p>\n<p>Munn\u00e9, S., Spinella, F. ve Grifo, JA (2019). IVF d\u00f6ng\u00fclerinde PGT-A uygulamas\u0131ndan sonraki klinik sonu\u00e7lar: Bir inceleme. \u0130nsan \u00dcreme G\u00fcncellemesi, 25(2), 209\u2013222.<\/p>\n<p>Amerikan \u00dcreme T\u0131bb\u0131 Derne\u011fi (ASRM) Uygulama Komitesi. (2020). \u0130mplantasyon \u00f6ncesi genetik testlerin klinik uygulamalar\u0131: Bir komite g\u00f6r\u00fc\u015f\u00fc. Do\u011furganl\u0131k ve K\u0131s\u0131rl\u0131k, 113(2), 305\u2013322.<\/p>\n<p>Scott, RT, Jr, Upham, KM, Forman, EJ, Zhao, T., &amp; Treff, NR (2013). B\u00f6l\u00fcnme a\u015famas\u0131 biyopsisi insan embriyonik implantasyon potansiyelini \u00f6nemli \u00f6l\u00e7\u00fcde bozarken blastosist biyopsisi bozmaz: Rastgele ve e\u015fle\u015ftirilmi\u015f klinik bir \u00e7al\u0131\u015fma. Do\u011furganl\u0131k ve K\u0131s\u0131rl\u0131k, 100(3), 624\u2013630. https:\/\/doi.org\/10.1016\/j.fertnstert.2013.04.039<\/p>\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t\t\t\t<\/div>","protected":false},"excerpt":{"rendered":"<p>Preimplantasyon Genetik Testine Genel Bak\u0131\u015f Resim boyutu : 750\u00d7375 \u0130lgili Konular T\u00fcp Bebek ile Cinsiyet Se\u00e7imi DNA Par\u00e7alanmas\u0131 Varl\u0131\u011f\u0131nda Sperm Se\u00e7imi \u0130\u00e7in Mikroak\u0131\u015fkan \u00c7ip Tekrarlayan D\u00fc\u015f\u00fcklerin Y\u00f6netimi Tekrarlayan T\u00fcp Bebek Ba\u015far\u0131s\u0131zl\u0131klar\u0131n\u0131n Y\u00f6netimi Orak H\u00fccre Hastal\u0131\u011f\u0131n\u0131n \u00d6nlenmesi Preimplantasyon Genetik Testi, hem alternatif bir gebelik testi hem de embriyo testi i\u00e7in yeni nesil bir y\u00f6ntemdir.<\/p>","protected":false},"author":1,"featured_media":1423,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"elementor_header_footer","meta":{"footnotes":""},"categories":[],"tags":[],"class_list":["post-722","page","type-page","status-publish","has-post-thumbnail","hentry"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v24.3 - 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