Factor V Leiden and prothrombin G20210A gene mutations in women with a history of thrombosis during pregnancy. Relation to pregnancy outcomes for mother and fetus

OBJECTIVE: To investigate the presence of factor V Leiden (FVL), and prothrombin gene mutations (PRT), protein C and protein S in pregnant women with a previous history of thromboembolism, and evaluate their impact on maternal and fetal outcomes.

METHODS: This study was carried out at Ain Shams University Hospital, Cairo, Egypt between January 2006 to March 2008. The study included 15 pregnant females without a history of thromboembolism (control group), and 25 pregnant females with a history of previous thromboembolism during pregnancy, and puerperium (patient group). Identification of FVL and PRT mutations by real-time quantitative polymerase chain reaction, and estimation of protein C and S activity by functional clotting assay were performed.

RESULTS: Regarding the control group; one patient had FVL mutation (6.6%), and one had decreased protein C activity (6.6%). As regard the patient group 13/25 (52%) had normal genotype, and 12/25 (48%) expressed abnormal genotype either FVL or PRT G20210A, or both. Also 3/25 (12%) patients had decreased protein C activity, and 2/25 (8%) had decreased protein S. The intrauterine growth retardation (IUGR) less than the tenth percentile was more in the patients group (48%) compared to the control group (33%), while there was no statistically significant difference between both groups on preeclampsia, placental abruption, abortion, or IUGR less than fifth percentile. The FVL was not associated with any adverse outcomes, while the PRT mutation was significantly associated with IUGR less than the fifth percentile.

CONCLUSION: The results of this study shows that good monitoring of fetal growth is mandatory for all carriers of the PRT gene mutation.