title: Prevalence of genetic markers for thrombophilia in recurrent pregnancy loss.
abstract: BACKGROUND
  The genetic predispositions to venous thrombosis such as factor V Leiden (FVL) mutation (Arg 506 Gln), prothrombin (FII) gene mutation (G20210A), and mutation of the methylenetetrahydrofolate reductase (MTHFR) gene (C677T) have been reported to be associated with recurrent pregnancy loss. This paper examines the prevalence of markers for genetic thrombophilias in women with recurrent miscarriage.
  
  
  METHODS
  The prevalence of FVL, FII G20210A and MTHFR C677T was compared in 108 women with three or more pregnancy losses either exclusively in the first trimester, or mixed first and second trimester losses, with the prevalence found in 82 fertile parous control women without miscarriages. Markers for the thrombophilias were assessed by PCR analysis.
  
  
  RESULTS
  Twenty-three of the 108 patients (21.3%), had thrombophilia markers, which was similar to the proportion of patients in the control group (20.7%) with these markers. The prevalences of FVL and FII G20210A were lower in the study group than in the control group (3.7 versus 6.1% for FVL and 4.6 versus 6.1% for FII respectively); however, the difference was not statistically significant. In contrast, the prevalence of MTHFR C677T was higher in the study group than the control population (13 versus 8.5% respectively), but this difference was not statistically significant. There was no statistically significant prevalence of any particular thrombophilia in patients with previous first and second trimester pregnancy losses compared with patients with first trimester losses alone.
  
  
  CONCLUSIONS
  Thrombophilia was not found to be associated with recurrent pregnancy loss.
authors.affiliation: Department of Obstetrics and Gynecology, Sheba Medical Center, Tel Hashomer, Israel. carp@netvision.net.il
authors.forename: Howard
authors.initials: H
authors.lastname: Carp
authors.forename: Ophira
authors.initials: O
authors.lastname: Salomon
authors.forename: Daniel
authors.initials: D
authors.lastname: Seidman
authors.forename: Rima
authors.initials: R
authors.lastname: Dardik
authors.forename: Nurith
authors.initials: N
authors.lastname: Rosenberg
authors.forename: Aida
authors.initials: A
authors.lastname: Inbal
mesh_terms: D000026:Abortion, Habitual / Q000150:complications* / Q000235:genetics*; D000328:Adult; D016022:Case-Control Studies; D005165:Factor V / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005819:Genetic Markers; D006801:Humans; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D009154:Mutation; D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000235:genetics*; D011247:Pregnancy; D011516:Prothrombin / Q000235:genetics*; D019851:Thrombophilia / Q000150:complications* / Q000235:genetics*
chemical_list: D005819:Genetic Markers; C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin; D000587:Oxidoreductases Acting on CH-NH Group Donors; D042965:Methylenetetrahydrofolate Reductase (NADPH2)