分子遺伝医学

The Prevalence of Inherited Thrombophilic Polymorphisms in Saudi Females with Recurrent Pregnancy Loss Confirmed using Different Screening Protocols of PCR

Abstract

Gihan E-H Gawish

Inherited thrombophilia has recently been identified as a major cause of thrombembolism, but it may also contribute to adverse pregnancy outcomes and recurrent pregnancy loss. Three gene mutations namely leiden (FV G1691A), prothrombin (FII G20210A), and methylenetetrahydrofolate reductase (MTHFR C677T) are the most common types of hereditary thrombophilias in women with RPL, which in turn can result in placentation. These are usually undiagnosed, because most carriers are asymptomatic. The aim of this study was to determine the association of specific inherited thrombophilias and recurrent pregnant loss (RPL) among Saudi women. The study included 142 females were 72 had a history of 2 or more events of fetal loss in any of the 3 trimesters of pregnancy. The remaining 70 were clinically healthy women with a good obstetric history and have designated as a control group. Detection of inherited thrombophilia genes mutations was confirmed using different PCR screening protocols. The frequencies of FV & FII mutations related to the pregnancy loss stages showed that FV mutation ratio was similar among cases with early or late stage pregnancy loss (25% - 26%) but significantly higher than that of controls (1.4%). On the other hand FII mutation ratio was high among cases with late pregnancy loss (50%) followed by early pregnancy loss (38%) and was significant higher than that of controls (1.4%). MTHFR C677T mutation was more common in group of women with fetal loss in first trimester compared to the controls. We have reported that the combinations of two or more thrombophilic polymorphism risk factors were observed in 10.8% healthy Saudi women with unexplained RPL while no more than one risk factor was observed in any of the controls. We concluded that there is a strong association between the combined inherited thrombophilic mutations related to FV G1691A, FII G20210A, and MTHFR C677T genes among Saudi women. Our data confirm the hypothesis that inherited thrombophilia is indeed a significant abnormality in the RPL subjects.