{"id":2325,"date":"2025-06-04T19:14:33","date_gmt":"2025-06-04T16:14:33","guid":{"rendered":"https:\/\/sonerduzguner.com\/?p=2325"},"modified":"2026-10-26T14:49:12","modified_gmt":"2026-10-26T11:49:12","slug":"preimplantation-genetic-diagnosis","status":"publish","type":"post","link":"https:\/\/www.sonerduzguner.com\/en\/preimplantation-genetic-diagnosis\/","title":{"rendered":"Preimplantation Genetic Diagnosis"},"content":{"rendered":"<div class=\"wpb-content-wrapper\"><div      class=\"vc_row wpb_row section vc_row-fluid\" style=' padding-bottom:40px; text-align:left;'><div class=\"full_section_inner clearfix\"><div class=\"wpb_column vc_column_container vc_col-sm-12\"><div class=\"vc_column-inner\"><div class=\"wpb_wrapper\">\n\t<div class=\"wpb_text_column wpb_content_element\">\n\t\t<div class=\"wpb_wrapper\">\n\t\t\t<p>Preimplantasyon genetik tan\u0131 (PGT), t\u00fcp bebek tedavisinde embriyolar\u0131n transferden \u00f6nce genetik a\u00e7\u0131dan incelenmesini sa\u011flayan bir y\u00f6ntemdir. Kromozomal a\u00e7\u0131dan sa\u011fl\u0131kl\u0131 embriyolar\u0131n se\u00e7ilmesine yard\u0131mc\u0131 olarak gebelik \u015fans\u0131n\u0131 art\u0131rmay\u0131 ve gebelik kayb\u0131 riskini azaltmay\u0131 ama\u00e7lar. Bu yaz\u0131da PGT y\u00f6ntemlerini, kimlere \u00f6nerildi\u011fini ve nas\u0131l uyguland\u0131\u011f\u0131n\u0131 bulabilir, Op. Dr. Soner D\u00fczg\u00fcner\u2019in konuyu anlatt\u0131\u011f\u0131 videoyu izleyebilirsiniz.<\/p>\n\n\t\t<\/div>\n\t<\/div><div class=\"vc_empty_space\"  style=\"height: 20px\" >\n\t<span class=\"vc_empty_space_inner\">\n\t\t<span class=\"empty_space_image\"  ><\/span>\n\t<\/span>\n<\/div>\n\t<div class=\"wpb_raw_code wpb_raw_html wpb_content_element\" >\n\t\t<div class=\"wpb_wrapper\">\n\t\t\t<iframe class=\"icerik-video\" width=\"560\" height=\"315\" src=\"https:\/\/www.youtube.com\/embed\/mpeV4FbmRtQ?si=axMGHp7TP7tWzeX8\" title=\"YouTube video player\" frameborder=\"0\" allow=\"accelerometer; autoplay; clipboard-write; encrypted-media; gyroscope; picture-in-picture; web-share\" referrerpolicy=\"strict-origin-when-cross-origin\" allowfullscreen><\/iframe>\n\t\t<\/div>\n\t<\/div>\n<div class=\"vc_empty_space\"  style=\"height: 15px\" >\n\t<span class=\"vc_empty_space_inner\">\n\t\t<span class=\"empty_space_image\"  ><\/span>\n\t<\/span>\n<\/div>\n\t<div class=\"wpb_text_column wpb_content_element\">\n\t\t<div class=\"wpb_wrapper\">\n\t\t\t<p style=\"text-align: center;\"><strong><em>In this video, you can find information about what preimplantation genetic diagnosis is, how it is applied, and its relationship with maternal age.<\/em><\/strong><\/p>\n\n\t\t<\/div>\n\t<\/div><\/div><\/div><\/div><\/div><\/div><div      class=\"vc_row wpb_row section vc_row-fluid\" style=' text-align:left;'><div class=\"full_section_inner clearfix\"><div class=\"blog-detay wpb_column vc_column_container vc_col-sm-12\"><div class=\"vc_column-inner\"><div class=\"wpb_wrapper\">\n\t<div class=\"wpb_text_column wpb_content_element\">\n\t\t<div class=\"wpb_wrapper\">\n\t\t\t<h2><span class=\"ez-toc-section\" id=\"Preimplantasyon_Genetik_Tani_%E2%80%93_Anoploidi_%E2%80%93_PGT-A\"><\/span>Preimplantation Genetic Testing \u2013 Aneuploidy \u2013 (PGT-A)<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>It is a method used to detect chromosomal abnormalities in embryos. This method is ideal for cases of recurrent pregnancy loss, repeated embryo implantation failures in IVF, severe male factor infertility, genetic causes such as translocation carriers, or to shorten the time to pregnancy by selecting among embryos. The procedure involves taking a biopsy from the embryo.<\/p>\n<p>When the embryo reaches the 5th or 6th day, it is called a blastocyst. After taking 5-10 cells from the trophectoderm, which will later develop into the placenta, it is analyzed in the Genetic Laboratory using next-generation sequencing (NGS) to determine the number and structure of chromosomes. NGS technology is more sensitive compared to the older Array-CGH method.<\/p>\n<p>This method can detect mosaic embryos with levels ranging between 20% and 80%.<\/p>\n<p>Normal (euploid embryo): An embryo is considered normal if it has two copies of each chromosome and the sex chromosomes are XX or XY.<\/p>\n<p class=\"translation-block\"><strong>Abnormal (aneuploid embryo):<\/strong> An embryo is called abnormal if it has a single copy, three or more copies of any chromosome, or if there are numerical or structural abnormalities in the sex chromosomes.<\/p>\n<p><strong>Mozaik embriyo:<\/strong> Embriyoda bazen bir veya birden fazla kromozomda kopya say\u0131s\u0131 2 olmas\u0131 gerekirken, 1-2 aras\u0131nda bir oranda veya 2-3 aras\u0131nda bir oranda izlenebilir. Bu ara de\u011ferler y\u00fczde olarak ifade edilir, embriyoda mozaiklik olarak tan\u0131mlan\u0131r, mozaizmin y\u00fczdesi ve hastan\u0131n t\u0131bbi \u00f6yk\u00fcs\u00fc ve durumuna g\u00f6re bu embriyonun de\u011ferlendirilmesi karar\u0131 tart\u0131\u015f\u0131l\u0131r.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"Preimplantasyon_Genetik_Tani_%E2%80%93_PGT-SR\"><\/span>Preimplantation Genetic Testing \u2013 Structural Rearrangements (PGT-SR)<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Even if the mother or father appears healthy, a chromosomal difference present in their structure can be negatively passed on to embryos. One such condition is 'translocation.' There are two different types of translocations: reciprocal, where two or more chromosomes exchange segments with each other, and Robertsonian, where two chromosomes fuse end-to-end to appear as a single chromosome.<\/p>\n<p>An individual who is a balanced translocation carrier may be completely healthy, but if their egg or sperm carries an unbalanced translocation, it can be passed to the embryo as a chromosomal abnormality. This condition can prevent pregnancy or lead to miscarriages.<\/p>\n<p>Depending on the size of the exchanged chromosome segments or the region where they are located on the chromosome, analysis can be performed using Next Generation Sequencing (NGS). Translocation carrier status rises up to 3% in couples with recurrent implantation failures and up to 10% in couples with recurrent miscarriages.<\/p>\n<p>The identification of abnormal embryos through preimplantation genetic testing and the transfer of normal or balanced embryos significantly improves pregnancy success rates.<\/p>\n<p>Although the chance of finding a normal or balanced embryo is low, pregnancy rates achieved through treatments resulting in transfer are quite high. PGT increases pregnancy rates and reduces pregnancy losses in this patient group.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"Preimplantasyon_Genetik_Tani_%E2%80%93_Tek_Gen_Hastaliklari\"><\/span>Preimplantation Genetic Testing \u2013 Single Gene Disorders<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>There are diseases with familial genetic inheritance characteristics. Genetic disease screening in embryos through IVF prevents transmission to subsequent generations and also contributes to the formation of a healthy pregnancy.<\/p>\n<p>The procedure performed to understand this is referred to as PGT-M. In the first step of this treatment, the region of the genetic mutation is identified. Then, biopsies taken from embryos obtained through IVF are evaluated in the genetic laboratory for both the genetic mutation and numerical and structural chromosomal abnormalities. This ensures that a genetically healthy embryo is transferred and that the embryo is chromosomally normal.<\/p>\n<p class=\"translation-block\">It is recommended for couples who have a genetic disease or have been identified as carriers and want to have healthy children. Since the risk of disease is high in children of couples diagnosed with single-gene disorders or chromosomal abnormalities, it is frequently applied nowadays.<\/p>\n\n\t\t<\/div>\n\t<\/div><\/div><\/div><\/div><\/div><\/div><div      class=\"vc_row wpb_row section vc_row-fluid  sizi-arayalim vc_custom_1748263515128\" style=' text-align:left;'><div class=\"full_section_inner clearfix\"><div class=\"wpb_column vc_column_container vc_col-sm-12\"><div class=\"vc_column-inner\"><div class=\"wpb_wrapper\"><div      class=\"vc_row wpb_row section vc_row-fluid vc_inner  vc_custom_1748108924602\" style=' text-align:left;'><div class=\"full_section_inner clearfix\"><div class=\"wpb_column vc_column_container vc_col-sm-12\"><div class=\"vc_column-inner vc_custom_1746548174605\"><div class=\"wpb_wrapper\">\n\t<div class=\"wpb_text_column wpb_content_element\">\n\t\t<div class=\"wpb_wrapper\">\n\t\t\t<div style=\"color: #4c4c4c; font-size: 30px; line-height: 35px; font-style: normal; font-weight: bold; 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Dr. Soner D\u00dcZG\u00dcNER<\/h4>\n\n\t\t<\/div>\n\t<\/div>\n\t<div class=\"wpb_text_column wpb_content_element  blog-detay-unvan\">\n\t\t<div class=\"wpb_wrapper\">\n\t\t\t<p>Obstetrics and Gynaecology Specialist<\/p>\n\n\t\t<\/div>\n\t<\/div><div class=\"vc_empty_space\"  style=\"height: 5px\" >\n\t<span class=\"vc_empty_space_inner\">\n\t\t<span class=\"empty_space_image\"  ><\/span>\n\t<\/span>\n<\/div>\n\t<div class=\"wpb_text_column wpb_content_element  blog-detay-unvan-desc\">\n\t\t<div class=\"wpb_wrapper\">\n\t\t\t<p>Op. Dr. Soner D\u00fczg\u00fcner: Provides diagnosis and treatment in areas such as in vitro fertilization, women's health, infertility, gynecological surgery and pregnancy follow-up.<\/p>\n\n\t\t<\/div>\n\t<\/div><div class=\"vc_empty_space\"  style=\"height: 15px\" >\n\t<span class=\"vc_empty_space_inner\">\n\t\t<span class=\"empty_space_image\"  ><\/span>\n\t<\/span>\n<\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/div>\n<\/div>","protected":false},"excerpt":{"rendered":"<p>Oocyte vitrification, women having a limited number of oocyte reserves and oocyte quality<\/p>","protected":false},"author":1,"featured_media":1368,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[16],"tags":[],"class_list":["post-2325","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-tedaviler"],"_links":{"self":[{"href":"https:\/\/www.sonerduzguner.com\/en\/wp-json\/wp\/v2\/posts\/2325","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.sonerduzguner.com\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.sonerduzguner.com\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.sonerduzguner.com\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.sonerduzguner.com\/en\/wp-json\/wp\/v2\/comments?post=2325"}],"version-history":[{"count":11,"href":"https:\/\/www.sonerduzguner.com\/en\/wp-json\/wp\/v2\/posts\/2325\/revisions"}],"predecessor-version":[{"id":4443,"href":"https:\/\/www.sonerduzguner.com\/en\/wp-json\/wp\/v2\/posts\/2325\/revisions\/4443"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.sonerduzguner.com\/en\/wp-json\/wp\/v2\/media\/1368"}],"wp:attachment":[{"href":"https:\/\/www.sonerduzguner.com\/en\/wp-json\/wp\/v2\/media?parent=2325"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.sonerduzguner.com\/en\/wp-json\/wp\/v2\/categories?post=2325"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.sonerduzguner.com\/en\/wp-json\/wp\/v2\/tags?post=2325"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}