Inheritance and perinatal consequences of inherited thrombophilia in Greece

Objective: The purpose of the present study was to investigate the impact of inherited thrombophilic factors in the gestational outcome of unselected pregnant women from South-Western Greece. Method: 392 women with spontaneous pregnancy were investigated for the commonest thrombophilic mutations (Factor V Leiden, prothrombin G20210A, MTHFR C677T) and followed for adverse pregnancy outcomes. Comparisons between groups were performed by Pearson’s chi-square test and odd ratios were calculated. Result: Thrombophilic genotypes were significantly higher in women with placental abruption (PA). Heterozygocity for Factor V Leiden increased 9.1 times the risk for PA (95% CI 2.2-37) while homozygocity for C677T MTHFR mutation increased the risk 4.8 times (95% CI 1.6-14). The MTHFR T677T genotype increased the risk for PA despite the fact that all women were on folate supplements at doses recommended for treatment of hyperhomocysteinemia and had normal serum folate and B12 levels. Women with inherited thrombophilia and previous obstetric complications were at significant risk for complications in a subsequent pregnancy (p