Association of Prothrombin (A20210G) and Factor V Leiden (A506G) with Recurrent Pregnancy Loss

Maedica (Bucur). 2012 Sep;7(3):222-6.


Background: Inherited thrombophilias are the leading cause of maternal thromboembolism and are associated with an increased risk of recurrent spontaneous abortion (second- and third-trimester fetal loss). The purpose of this study was to investigate the effects of factor V and factor II involved in reproductive failure. Recently a possible association between unexplained infertility and genetic thrombophilia gene mutations have been reported with a significant statistically association with prothrombin A20210G.

Materials and methods: During the period from January 2011 to December 2011, 283 patients with unexplained infertility, who had received in our hospital, were investigated for this retrospective study, and the frequency of polymorphic variations was calculated. The infertile couples with recurrent pregnancy loss (RPL), had been trying to achieve successful pregnancy for greater than 1 year without success and known causes of infertility were excluded (semen anomalies, karyotype abnormalities, uterine malformations, etc) referred to our Centre for genetic counseling. The control group consists of 100 women who had one or more children in history were investigated by DNA Strip.

Results: Heterozygous and normal homozygous for the factor V mutation and factor II mutation were equally distributed among patients with recurrent miscarriage and fertile patients with two or more previous births. The combination of the two polymorphisms, prothrombin (A20210G) and factor V Leiden (A506G) revealed a significant correlation between them and early fetal loss.

Conclusions: The genes involved in thrombophilia could be one reason for fertility complications in some women with unexplained infertility. Our study shows that there is an association between factor II and V mutation and the risk for fetal loss.

Keywords: factor II; factor V; gene polymorphism; polymorphism; recurrent spontaneous abortions.