Evaluation of factor V Leiden, prothrombin and methylenetetrahydrofolate reductase gene mutations in patients with severe pregnancy complications in northern Finland

Gynecol Obstet Invest. 2006;62(1):28-32. doi: 10.1159/000091814. Epub 2006 Mar 1.

Abstract

Background: Thrombosis in placenta may lead to severe pregnancy complications. Most important inherited thrombophilias are factor V Leiden mutation, prothrombin mutation, and methylenetetrahydrofolate reductase mutation. The aim of our research was to evaluate the prevalence of inherited thrombophilias in severe pregnancy complications and in normal pregnancies.

Material and methods: The study subjects with severe preeclampsia, intrauterine growth restriction, placental abruption or fetal death were collected during the period 1999-2004 from Oulu University Hospital. We also collected during the same period voluntary parturients with normal pregnancy outcome as the control group. FVL, FII, and MTHFR gene mutations of the patients and controls were analyzed.

Results: We found a significant difference in the prevalence of FVL mutation between the groups. There were 9.5% FVL mutations in the study group compared to 1.8% in the control group; the observed difference between prevalences was 7.7% (95% CI 2.0-13.4). No statistical difference was found in the FII or MTHFR mutations between the groups. All FV and FII mutations were heterozygous and all the MTHFR mutations homozygous.

Conclusion: Women with thrombophilia have a risk for severe pregnancy complications. Randomized controlled trials are needed to assess the influence of low-molecular-weight heparin in pregnant women with thrombophilia.

MeSH terms

  • Case-Control Studies
  • Factor V / analysis
  • Factor V / genetics*
  • Female
  • Finland / epidemiology
  • Heterozygote
  • Homozygote
  • Humans
  • Methylenetetrahydrofolate Reductase (NADPH2) / analysis
  • Methylenetetrahydrofolate Reductase (NADPH2) / genetics*
  • Mutation*
  • Pre-Eclampsia
  • Pregnancy
  • Pregnancy Complications, Hematologic / etiology*
  • Pregnancy Complications, Hematologic / genetics
  • Pregnancy Complications, Hematologic / pathology
  • Pregnancy Complications, Hematologic / physiopathology
  • Prevalence
  • Prothrombin / analysis
  • Prothrombin / genetics*
  • Retrospective Studies
  • Severity of Illness Index

Substances

  • factor V Leiden
  • Factor V
  • Prothrombin
  • Methylenetetrahydrofolate Reductase (NADPH2)