TEKRARLAYAN GEBELİK KAYIPLARINDA ETİYOLOJİNİN AÇIKLANMASINA YÖNELİK YENİ YAKLAŞIMLAR

Öz

Tekrarlayan gebelik kayıpları tüm dünyada yaklaşık %1-3 oranında görülmekte olup, yıllardır üzerinde çalışılan bir konudur. Gebelik, üreme hücrelerinin üretiminden başlayarak, fertilizasyon, implantasyon, embriyolojik gelişim süreçleri, plasentanın oluşumu, feto-maternal kan dolaşımının sağlanması ve gebeliğin devamını kapsayan oldukça geniş ve farklı süreçleri içermektedir. Bu süreçlerden herhangi birinde, ilişkili bir yolağı etkileyen faktörler gebelik kayıplarında altta yatan sebep olabilir. Yeni teknolojiler ile birlikte gebelik kayıplarında etiyolojide yer alan genetik faktörlerin sadece kromozom anomalileri değil, tek gen mutasyonları ya da farklı genetik faktörlerin de olduğu gösterilmektedir. Yeni gen/lerin tanımlanması ve yolakların aktivitesinin anlaşılması sebebi açıklanamayan olgu grubunda tanı ve tedavi yaklaşımlarını değiştirebilecek güçtedir.

Anahtar Kelimeler

• Tekrarlayan gebelik kayıpları
• yeni nesil dizileme
• genetik

NEW APPROACHES TO EXPLAINING THE ETIOLOGY IN RECURRENT PREGNANCY LOSSES

Öz

Recurrent pregnancy losses are seen in approximately 1-3% of the world’s pregnancies and it has been a subject that has been studied for years. Pregnancy includes the production of fertile cells, fertilization, implantation, embryological development processes, the formation of the placenta, the provision of feto-maternal blood circulation and the continuity of pregnancy. Factors affecting an associated pathway in any of these processes may be the underlying cause of pregnancy loss. With the new technologies, it has started to be shown that genetic factors in etiology in pregnancy losses are not only chromosome anomalies, but also single-gene mutations or different genetic factors. The identification of new gene/s and the understanding of the activity of the pathways are compelling enough to change the diagnosis and treatment approaches in the unexplained cases group.

Anahtar Kelimeler

• Recurrent pregnancy loss
• next generation sequencing
• genetics

Kaynakça

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