International Journal of Medical Laboratory

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Pazoki N, Naseri F. The Prevalence of Common Mutations in Thrombophilic Patients in Iranian Population with Recurrent Miscarriage. IJML 2019; 6 (2) :115-123
URL: http://ijml.ssu.ac.ir/article-1-281-en.html

Background and Aims: To date, several factors have been reported in recurrent miscarriage. Genetic mutations are the most important causative factors in women. Fetal thrombotic vasculopathy is a new described placental alteration with varying degrees of involvement and often associated with adverse prenatal outcomes. The diagnosis is made histologically and so is postnatal, which makes it a challenge in clinical practice. The aim of the present study is investigation of the common mutations in women with recurrent miscarriage.
Materials and Methods: A cross-sectional study was conducted on 100 women with a history of recurrent miscarriage fetus in 2018. In these patients, several genes such as MTHFR, F2, F5 Leiden, PAI1, F13 and FGB were analyzed by sequencing techniques. The most common mutations in these genes were sequenced and analyzed.
Results: According to statistical results obtained, MTHFR gene (C677T, A1298C) has the highest rate (50 %) of common mutations (p=0.001). After that F2 (G20210A) and F5 Leiden (G1691A) have the highest statistical values (each one 20%). In addition to these genes, there are other unknown mutations which have not been studied in terms of pathogenicity. Other genes have a smaller percentage of aborted fetus infrequently.
Conclusions: Common polymorphisms in the thrombophilic system are likely to result in abortion in these subjects, due to impaired coagulation of the mother and the fetus. Investigating the presence of common mutations and examining their association with other mutations in the thrombophilia as a prognostic in patients with recurrent miscarriage is necessary.