title: The prevalence of inherited thrombophilic polymorphisms in an asymptomatic Australian antenatal population.
abstract: OBJECTIVE
  Inherited thrombophilic polymorphisms have been linked to pregnancy-related thromboembolism and other adverse pregnancy outcomes. As there are limited data on the prevalence of these polymorphisms in Australian populations, we aimed to assess this in an antenatal population.
  
  
  METHODS
  Healthy nulliparous women (n = 2031) were recruited to this study. The women had no past or family history of venous thromboembolism. Women were excluded if they or a family member was known to be a carrier of any thrombophilic marker. Genotyping from venous blood for the factor V Leiden, prothrombin 20210A, MTHFR 677 and 1298 and thrombomodulin C1418T polymorphisms was undertaken.
  
  
  RESULTS
  Key findings were that 107 of 2019 (5.30, 95% confidence interval 4.36-6.37%) women tested were heterozygous carriers of factor V Leiden and one was homozygous (0.05, 0-0.27%); 2.43% of women were heterozygous carriers of the prothrombin gene mutation (1.80-3.20%) while no women were homozygous for this mutation; 11.62% (10.22-13.02%) and 9.98% (8.67-11.29%) were homozygous for the MTHFR 677 and 1298 polymorphisms, respectively, and 3.43% (2.63-4.22%) of women were homozygous for the thrombomodulin polymorphism.
  
  
  CONCLUSIONS
  The prevalence of these polymorphisms is consistent with previously published data in Caucasian populations. These data will provide the basis for further assessment of the relationship between poor pregnancy outcome and these inherited thrombophilic polymorphisms in an asymptomatic antenatal population.
authors.affiliation: Department of Obstetrics and Gynaecology, The University of Melbourne, The Royal Women's Hospital, Parkville, Victoria, Australia. jo.said@thewomens.org.au
authors.forename: Joanne M
authors.initials: JM
authors.lastname: Said
authors.forename: Shaun P
authors.initials: SP
authors.lastname: Brennecke
authors.forename: Eric K
authors.initials: EK
authors.lastname: Moses
authors.forename: Susan P
authors.initials: SP
authors.lastname: Walker
authors.forename: Paul T
authors.initials: PT
authors.lastname: Monagle
authors.forename: Janine
authors.initials: J
authors.lastname: Campbell
authors.forename: Valerie J
authors.initials: VJ
authors.lastname: Bryant
authors.forename: Anthony J
authors.initials: AJ
authors.lastname: Borg
authors.forename: John R
authors.initials: JR
authors.lastname: Higgins
mesh_terms: D001315:Australia / Q000453:epidemiology; D025861:Blood Coagulation Disorders, Inherited / Q000453:epidemiology* / Q000208:ethnology; D005165:Factor V / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D009154:Mutation; D011110:Polymorphism, Genetic; D011247:Pregnancy; D011256:Pregnancy Outcome / Q000235:genetics; D015995:Prevalence; D011516:Prothrombin / Q000235:genetics*; D018180:Thrombomodulin / Q000235:genetics*; D019851:Thrombophilia / Q000453:epidemiology* / Q000208:ethnology / Q000235:genetics
chemical_list: D018180:Thrombomodulin; C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin; D042965:Methylenetetrahydrofolate Reductase (NADPH2)