Ezgi KATRAN, İzel KUTLU, İsmail Kubilay BAYKAN, Merve TERZİ, Sibel HACIOĞLU, BANUHAN ŞAHİN, AYSUN BAY KARABULUT

Tekrarlayan erken gebelik kayıplarında maternal trombofili nedenleri

Amaç: Kalıtsal trombofililer tekrarlayan gebelik kayıplarında (TGK) yaygın olarak suçlanan sebeplerden biridir. Özellikle akraba evliliklerinin yaygın olduğu bölgelerde var olan trombofili bozukluklarının prenatal dönemde tespit edilmesi ile gerekli önlemler alınarak sağlıklı gebelikler sağlanabilecektir. Bu çalışmada TGK nedeniyle başvuran ve trombofili panelinde anormallik saptanan olgularda trombofili nedenlerinin dağılımını incelemeyi amaçladık.Gereç ve yöntem: Çalışma grubu tekrarlayan gebelik kaybı hikayesi ile Pamukkale Üniversitesi Tıp Fakültesi Hastanesi Kadın Hastalıkları ve Doğum polikliniğine başvurmuş ve etyolojiye yönelik araştırmalarında sadece trombofili panelinde pozitiflik saptanmış 109 hastadan oluşmaktadır. Grubun yapılan anket sorgulamaları ve trombofili panel sonuçları istatistiksel olarak değerlendirilmiştir. Bulgular: 109 hastanın 39'unda (% 35,8) Metil-tetra-hidro-folat reduktaz (MTFHR) heterozigot mutasyonu bulunmuş iken, 18'inde (% 16,5) Aktive protein C (APC) direnci, 17'sinde (% 15,6) Faktör V Leiden (FVL)heterozigot mutasyonu ve yine 17'sinde (% 15,6) MTFHR homozigot mutasyonu tespit edilmiştir. En sık birlikte görülen patoloji ise FVL heterozigot mutasyonu ile APC direncidir (%8,3).Sonuç: Tekrarlayan gebelik kaybı olan olgularda en sık karşılaştığımız trombofili nedeni MTHFR heterozigot mutasyonu, en sık karşılaşılan trombofili birlikteliği ise F V Leiden heterozigot mutasyonu ile APC direnci varlığıdır.

Maternal thrombophilia causes at recurrent early pregnancy loss

Purpose: Genetically transmitted thrombophilias are commonly accused for the recurrent pregnancy losses. Detection of thrombophilia in preconceptional or early prenatal period provides great advantage to obtain healthy pregnancies, especially in places where consanguineous marriages are common. In this study we aimed to evaluate distribution of thrombophilia problems in cases with recurrent pregnancy loss.Materials and methods:In our study, the population was composed of 109 women who admitted to Pamukkale University Faculty of Medicine Obstetrics and Gynecology department with recurrent pregnancy loss and having no abnormality apart from thrombophilia. A questionnaire was administered to obtain information about background history and the results were evaluated statistically.Results: We detected Methyl-tetra-hydra-folate-reductase (MTHFR) heterozygote mutation in 39 (35,8 %), Activated protein C resistance (APC) in 18 (16,5%), Factor V Leiden (FVL) mutation in 17 (15,6%) and MTFHR homozygote mutation in 17 (15,6%) patients out of 109. The most common thrombophilias seen together were FVL heterozygot mutation and APC resistance (%8,3).Conclusion: MTHFR heterozygot mutation was the most frequent thrombophilic abnormality we detected in cases with recurrent pregnancy loss and the most common abnormalities seen together are the FVL heterozygot mutation and APC resistance.

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