Thrombophilic gene mutations and recurrent spontaneous abortion: Prothrombin mutation increases the risk in the first trimester

PROBLEM: Thrombophilic predisposition may be one of the underlying causes o f recurrent spontaneous abortions (RSA). We studied the prevalence or five thrombophilic gene mutations in patients with RSA. METHOD OF STUDY: 102 patients with two or more consecutive abortions and 12 8 women without miscarriage were analyzed for factor V Leiden mutation (FVL ), prothrombin G20210A mutation (PTM), C677T mutation in the 5,10-methylene tetrahydrofolate reductase (MTHFR) gene, glycoprotein IIIa (GPIIIa) C1565T polymorphism, and beta -fibrinogen G-455A polymorphism by polymerase chain reaction (PCR) techniques. RESULTS: No differences in the prevalence of FVL, MTHFR T/T, GPIIIa and bet a -fibrinogen polymorphism were detected. Heterozygous PTM occurred more of ten in patients with RSA. This effect was significant in a subgroup with ab ortions exclusively in the first trimester (6.7% vs. 0.8%, P = 0.027, OR 8. 5). CONCLUSIONS: In contrast to the other mutations and polymorphisms, heterozy gous PTM is more common in patients with abortions in the first trimester. This might reflect an influence of PTM on pathogenesis of early pregnancy l oss.