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ASSOCIATION BETWEEN RECURRENT PREGNANCY LOSS AND MATERNAL THROMBOPHILIA MUTATIONS
Aliyeva J.T.


DOI: 10.61775/2413-3302.v4i30.06


ABSTRACT
Pregnant women with hereditary thrombophilia have an increased risk of RPL. The role of genetic thrombophilia in women with recurrent pregnancy loss have been evaluated and assumed it to be a causing factor for recurrent pregnancy loss and other reproductive complications, which includes Factor V Leiden mutation, Prothrombin, MTHFR and PAİ 4G/5G mutation. In this study we aimed to investigate the prevalence of these molecular defects in subjects with a history of early RPL. 35 women with one or more consecutive unexplained first trimester miscarriages were detected. The presence of these mutations was assessed by polymerase chain reaction analysis. We detected a combined mutation of one or more genes in 33 women, 20% of patients with at least one homozygous mutation (7 women), oonly two women (5.7%) did not have any thrombophilic mutation. These results suggest that thrombophilic mutations have an important role in etiology of RPL.
Keywords: thrombophilia, recurrent pregnancy losses, preeclampsia, anticoagulant treatment


REFERENCES
  1. Şamlı H., İmirzalıoğlu N., Özgöz A., Köken G., Ceylaner S., Ceylaner G. Tekrarlayan Gebelik Kayıplarında Trombofili Mutasyonları // c Turkiye Klinikleri J Gynecol Obst 2009;19(5).
  2. Ford H.B., Danny J.S. Recurrent Pregnancy Loss: Etiology, Diagnosis, and Therapy // 2009 Spring; 2(2): 76-83.
  3. Deniz R, Baykuş Y, Kavak E.Ç. Tekrarlayan Erken Gebelik Kayıplarına Yaklaşım // Kafkas J Med Sci 2016; 6(2):130-137.
  4. Coulam C.B., Wallis D., Weinstein J., DasGupta D.S., Jejendram R.S. Comparison of thrombophilic gene mutation among patients experiencing recurrent miscarriage and deep vein thrombosis // Am J Reprod Immunol 2008; 60:426-31.
  5. Dawood F., Mountford R., Ferquharson R., Quenby S. Genetic polymorphisms on the factor V gene in women with recurrent miscarriage an acquired APCR // Hum Reprod 2007; 22:2546-53.
  6. Major D.A., Sane D.C., Herrington D.M. Cardiovascular implications of factor V Leiden mutation // Am Heart J 2001; 140(2):501-16.
  7. Poort S.R., Rosendaal F.R., Reitsma P.H., et al. A common genetic variation in the 3'-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis // Blood 1996;88:3698-3703.
  8. Kafkas S., Kadıköylü G. Gebelik ve kalıtsal trombofili // ADÜ Tıp Fakültesi Dergisi 2005; 6(2) : 43 - 50.
  9. Durmaz B., Kozan S., Torun D., Bahçe M., Güran Ş. The possible role of hereditary mthfrc677t mutation in a family with recurrent abortus history // Cumhuriyet Med J 2011; 33:234-238.
  10. Botto L.D., Yang Q. 5,10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies // Am J Epidemiol.2000 May1;151(9) :862-77.
  11. Leclerc D., Sibani S. and Rozen R. Molecular Biology of Methylenetetrahydrofolate Reductase (MTHFR) and Overview of Mutations/Polymorphisms. https://www.ncbi.nlm.nih.gov/books/NBK6561/
  12. Dell'Edera D., L'Episcopia A., Simone F., Giovanna M.L., Annunziata A.E. and Arianna A. Methylenetetrahydrofolate reductase gene C677T and A1298C polymorphisms and susceptibility to recurrent pregnancy loss // Biomedical Reports 8: 172-175, 2018.
  13. Torabi R., Zarei S., Zeraati H., Zarnani A.H., Akhondi M.M., Hadavi R., Shiraz E.S. Jeddi-Tehrani M. Combination of Thrombophilic Gene Polymorphisms as a Cause of Increased the Risk of Recurrent Pregnancy Loss // J Reprod Infertil. 2012;13(2):89-94.
  14. Kujovich JL. Thrombophilia and pregnancy complications // Am J Obstet Gynecol.2004. 191:412-24.