Preimplantasyon Genetik Tanı

Year 2014, Volume: 3 Issue: 2, 49 - 53, 01.10.2014

Cemal Ekici

Abstract

Preimplantasyon Genetik Tanı, In Vitro Fertilization ve yardımcı üreme teknikleri ile elde edilen embriyolarda gebelik oluşmadan genetik incelemeyi mümkün kılan bir yöntemdir. Bu yöntemle embriyo oluşmadan veya oluşumundan birkaç gün sonra çeşitli biyopsi yöntemleri ile tek hücre veya birkaç hücresi genetik açıdan incelenmektedir. Alınan hücre veya hücrelerde ya floresan in situ hibridizasyon yöntemi ile kromozomal anomalileri ya da tüm genom amplifikasyonu sonrası Array-Comparative Genomic Hybridization=Karşılaştırmalı Genom Hibridizasyonu yöntemi ile tüm kromozomlar veya dizileme ile hedef genler incelenmektedir. Böylelikle, yapısal kromozom bozuklukları veya tek gen hastalıkları gibi genetik nedenler gebelik oluşmadan önce analiz edilerek sağlıklı embriyo seçme imkanı sağlanabilmektedir. Ayrıca preimplantasyon genetik tanı normal yolla çocuk sahibi olamayan ve yardımcı üreme tekniklerine baş vuran çiftlerde anöploidi taraması yapılarak gebelik şansını artıran ve sayısal kromozomal anomali nedeni ile gereksiz terminasyonları ortadan kaldıran bir yöntemdir. Preimplantasyon genetik tanı sadece bir tanı yöntemi olmakla kalmayıp, ailelerin sağlıklı çocuk sahibi olmasının yanında, kök hücre ile tedavisi mümkün olan hasta kardeş için HLA uyumlu doku olanağı da sunmaktadır

Keywords

Preimplantasyon Genetik Tanı, IVF, Embriyo

Preimplantation Genetic Diagnosis

Abstract

Preimplantation Genetic Diagnosis is a procedure which enables genetic analysis in the embryos obtained by In Vitro Fertilization or assisted reproductive techniques before pregnancy begins. By this procedure, before embryo formation or in the first few days after embryo development a single cell or a few cells are analysed genetically by various biopsy methods. The cell or cells are examined for chromosomal abnormalitites by fluorescent in situ hybridization or all chromosomes are examined by Array-Comparative Genomic Hybridization after whole genome amplification or target genes are analysed by sequencing. Thus, genetic reasons such as structural chromosomal abnormalities or single gene diseases are detected before pregnancy begins which gives the opportunity to choose the healthy embryos. Besides, in infertile couples who apply for assisted reproductive techniques preimplantation genetic diagnosis is a procedure increasing the chance of pregnancy by aneuploidy scanning and eliminating unnecessary pregnancy terminations because of numerical chromosomal abnormalities. Preimplantation genetic diagnosis is not only a technique for the diagnosis, but besides offering the chance of to provide a healthy baby to the families, it also provides the possibility of HLA compatible tissue for the sick sibling in whom cure is likely by stem cell therapy as well

Keywords

Preimplantation Genetic Diagnosis, IVF, Embryo

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