Clinical Study

Frequency of Factor V Leiden (G1691A), Prothrombin (G20210A) and Methylentetrahydrofolate Reductase (C677T) Gene Mutations In Women With Adverse Pregnancy Outcome

  • Murat Ulukus
  • Zuhal Eroglu
  • Ahmet Özgu¨r Yeniel
  • Erzat Toprak
  • Buket Kosova
  • Özgür Deniz Turan
  • Mustafa Ulukus

Received Date: 23.11.2005 Accepted Date: 03.07.2006 J Turk Ger Gynecol Assoc 2006;7(3):195-201


In the present study, we aimed to determine the frequency of common inherited thrombophilias among women with preeclampsia, intrauterine growth retardation, placental abruption, recurrent pregnancy loss, and stillbirth.


Sixty women with complicated pregnancies and as a control group 53 normal pregnant women were included in the study. Women with complicated pregnancies consist of preeclampsia (n = 21), intrauterine growth restriction (n = 12), intrauterine fetal death (n = 12), placental abruption (n = 5) and recurrent pregnancy loss (n = 10). Genotype analysis for factor V Leiden mutation, prothrombin mutation (PT 20210G/A), and methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism were performed by real-time online polymerase chain reaction.


The frequency of Factor V Leiden mutation was found statistically higher in the complicated pregnancy group, compared to normal group (23.3% versus 7.5%) (p = 0.04). On the other hand, no difference was detected on the heterozygous MTHFR frequencies between the two groups. However, 9% of women with complicated pregnancies had homozygous mutation and no woman was homozygous for MTHFR in the control group. PT gene mutation was found in only one patient from the control group.


Factor V Leiden mutation and homozygousity for the MTHFR polymorphism, rather than its heterozygousity, might be involved in the pathogenesis of adverse pregnancy outcome associated with placental vasculopathy.

Keywords: Hereditary thrombophilias, adverse pregnancy outcome