Factor V Leiden and factor II G20210A mutations in patients with recurrentabortion

Recurrent abortion (RA) represents an intriguing problem in obstetric pract ice in which genetic and acquired factors may play a role. In the present i nvestigation we sought to assess the possibility that inherited thrombophil ia might determine the risk of RA. We therefore investigated the prevalence of two genetic abnormalities frequently associated with venous thrombosis [factor V Leiden (FVL) and factor II G20210A] in 56 patients with primary o r secondary abortion and in 384 healthy control women. Polymerase chain rea ction amplification followed by digestion with the restriction enzymes MnlI and HindIII was used to define the FVL and FII G20210A genotypes respectiv ely. FVL was found in 4/56 patients (7.1%) and in 6/384 controls (1.6%), yi elding an odds ratio (OR) for RA related to FVL of 4.9 [95% confidence inte rval (CI): 1.3-17.8], FII G20210A was detected in 2/56 (3.6%) patients and in 4/384 (1%) controls (OR for RA: 3.5, CI: 0.6-19.7). In conclusion, FVL a nd FII G20210A mutations in patients with RA were more prevalent in compari son with controls. These data support a role for both mutations as determin ants of the risk of RA and strengthen the notion that thrombophilia plays a role in this clinical entity.