Durmaz, Burak Gülhane Askeri Tıp Akademisi - Tıbbi Genetik Anabilim Dalı, Turkey , Kozan, Salih Gülhane Askeri Tıp Akademisi - Tıbbi Genetik Anabilim Dalı, Turkey , Torun, Deniz Gülhane Askeri Tıp Akademisi - Tıbbi Genetik Anabilim Dalı, Turkey , Bahçe, Muhterem Gülhane Askeri Tıp Akademisi - Tıbbi Genetik Anabilim Dalı, Turkey , Güran, Şefik Gülhane Askeri Tıp Akademisi - Tıbbi Biyoloji Anabilim Dalı, Turkey

The possible role of hereditary mthfr c677t mutation in a family with recurrent abortus history

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The exact cause of habitual abortions can not be determined in approximately 70% of the cases. Uteroplasental circulation is very important for the ongoing pregnancy and any change in the coagulation factors are thought to cause occlusion of the placental vessels and therefore can have a role in abortions. Mutations affecting maternal coagulation, namely Factor V Leiden G1691A, Prothrombin G20210A and MTHFR C677T are used for genetic testing to determine the predisposition to thrombosis. For this reason, maternal thrombophilia and these tests are of great importance in clinical practice. In literature, many remarkable studies have been done with respect to these parameters. In this study, a couple with a history of recurrent pregnancy loss in the family was evaluated. Karyotype analysis and the mutations mentioned above were investigated. Chromosome analysis was normal in the couple but the father was carrying heterozygote MTHFR C677T mutation and the mother had the same mutation in homozygous pattern. As the other factors were already ruled out in this family, we assumed that MTHFR C677T mutation might explain the miscarriages in the family. Performing above-mentioned mutations to other patients presenting with the similar history may help clarify the etiology of recurrent abortions.

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Habitual abortion , thrombophilia , MTHFR C677T mutation

Cumhuriyet Medical Journal

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