Evaluating the role of inherited thrombophilia genes with recurrent pregnancy loss among Egyptian couples

Abstract

AimThromboembolic disorders including venous or arterial thrombosis within pregnancy are an important reason for maternal morbidity and mortality. Early detection of pregnant women with thromboembolic disorders asymptomatic is clinically important to decrease incidence of adverse pregnancy outcomes. Aim of this study is to assess frequency of three thrombophilic mutations [Factor V Leiden (FVL), Prothrombin G20210A (PT) and Methylenetetrahydrofolate reductase (MTHFR) A1298C] among Egyptian couples with RPL. Methods115 couples with recurrent pregnancy loss were enrolled in the study. To compare genotype frequency, we have selected 115 healthy fertile couples without history of RPL as control group. Genomic DNA was evaluated using Real time PCR to determine the genotype frequency. ResultsAllele frequencies of PT and MTHFR A1289C were similar between cases and controls. A allele in FVL G1619A among RPL patients was 15.7% vs. 4.3% among controls, P value; 0.001, OR: 4.0 (95% CI; 1.9–8.4). The incidence of multiple thrombophilic mutations among case group versus control group was as follows; In RPL patients 8.7% vs.1.7%; p 0.018 OR: 3.6 (95%CI; 1.3–9.3). Individual Male partners 16.5% vs.5.2%; p 0.006; OR 3.6 (95%CI; 1.3–9.3) and for the couples 25.2% vs.11.3%; p 0.006 OR4.3 (95%CI; 1. 8–9.9). ConclusionFVL mutation is significantly associated with RPL in contrast to MTHFR A1298C and PT G2010A. The presences of more than one thrombophilic defects (multiple thrombophilic mutations) within the same individual as well as consanguinity are significantly associated with RPL couples.