The evaluation of inherited thrombophilic conditions in patients with bleeding in the first trimester of pregnancy

Introduction: Prothrombotic condition induced by inherited thrombophilia is involved in vascularization disorders of the placenta bed. The aim of our study was to investigate the relationship between the presence of specific genetic mutations and the occurrence of complications in the first trimester of pregnancy. Material and method Thirty-six patients in the studied group, who presented bleeding in the first trimester of pregnancy, and 39 patients in the control group were tested for the mutation of factor V Leiden (FVL) (G1691A), prothrombin (G20210A) and methylenetetrahydrofolate reductase (MTHFR A1298C and C677T). Results: Twenty-seven patients in the studied group (75%) and 27 patients in the control group (69.2%) presented genetic thrombophilic mutations (p=0.5). Genetic polymorphism was described in similar percentages in the studied group (22.2%) as compared with the control group (23%) (p=0.9). The prevalence of the FVL mutation was higher in the control group (10.2%) as compared with the studied group (8.3%). The MTHFR A1298C mutation was more frequently isolated in the studied group (52.7%) as compared with the control group (46.1%)(p=0.5). MTHFR C677T occurred more frequently in the control group (38.4%) than in the studied group (36.1%) (p=0.8). The G20210A mutation was not isolated in any of the groups. The MTHFR A1298C mutation as well as homozygotism associated with MTHFR (A1298C and C677T) correlated with a higher risk of complications in the first trimester of pregnancy OR 1.30 95%CI [0.48-3.58] and OR 1.31 95%CI [0.37-4.68] respectively. Conclusion: The thrombophilic mutations determined in our clinical context had a similar distribution in the two groups. Therefore, genetic screening in such patients is only validated by the presence of suggestive patient history.