• genetics;
  • Leiden mutation;
  • pre-eclampsia;
  • pregnancy;
  • PCR

Pre-eclampsia is a pregnancy-related disorder that complicates approximately 5% of all pregnancies and is cited as the primary cause of worldwide maternal and fetal mortality. The factor V Leiden mutation has been implicated in the development of severe pre-eclampsia. In order to investigate this association, a sample of 198 Hungarian women was recruited and enrolled in one of the three groups based on reproductive and health status: those as classified as pregnant and healthy (n = 71), those diagnosed as pregnant and severe pre-eclamptic (n = 69), and those found to be healthy and non-pregnant (n = 58). The presence of factor V Leiden mutation was determined by using polymerase chain reaction (PCR) followed by restriction fragment length polymorphism analysis (RFLP). We identified three (5.2%) heterozygous among healthy non-pregnant participants, five (7.0%) heterozygous among healthy pregnant participants and 13 (18.8%) heterozygous among preeclamptic women (p < 0.05, 95% CI). Our result supports the previous observation that carriers of factor V Leiden mutation are at increased risk for developing severe pre-eclampsia.