ASSOCIATION BETWEEN RECURRENT PREGNANCY LOSS AND MATERNAL THROMBOPHILIA MUTATIONS

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.