title: Should factor V Leiden mutation and prothrombin gene polymorphism testing be done in women with recurrent miscarriage from North India?
abstract: OBJECTIVE
  Role of thrombophilic factor (FV) in the etiology of recurrent miscarriages is not confirmed till date. It has been hypothesized that thrombophilic G1691A factor V Leiden (FVL), if detected well ahead in time among recurrent miscarriages may be a treatable. The role of FVL mutation in the pathogenesis of sporadic and recurrent miscarriages among North Indian women was studied to construct the frequency data in this part of the country. Further, we have evaluated the cost-benefit factor.
  
  
  METHODS
  This is a case-control study, women with recurrent miscarriages (n = 1,000) as cases and healthy parous women (n = 500) as controls were enrolled in the study between January 2003 and January 2012. DNA was extracted from peripheral blood and analyzed for the presence of FVL mutation and prothrombin gene polymorphism (G20210A). We have carried out the meta-analysis taking into consideration 20 other world populations.
  
  
  RESULTS
  In total, 50 (5.0 %) cases and 12 (2.4 %) controls were heterozygous for the FVL mutation. The incidence of FVL was higher in recurrent miscarriage cases as compared to the control group (OR 2.14; 95 % CI 1.12-4.05).
  
  
  CONCLUSIONS
  Our results revealed the absence of FVL mutation in a homozygous state among patients and controls. Although the heterozygous mutation is almost double in cases as compared to controls, we still suggest that looking at the cost-benefit analysis this test may not be included in the battery of tests performed on recurrent miscarriages among North Indians from this part of the country.
authors.affiliation: Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Rae Bareli Road, Lucknow, UP 226014, India.
authors.forename: Farah
authors.initials: F
authors.lastname: Parveen
authors.forename: Anju
authors.initials: A
authors.lastname: Shukla
authors.forename: Suraksha
authors.initials: S
authors.lastname: Agrawal
mesh_terms: D000026:Abortion, Habitual / Q000191:economics / Q000235:genetics*; D000328:Adult; D016022:Case-Control Studies; D003362:Cost-Benefit Analysis; D004252:DNA Mutational Analysis; D005165:Factor V / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D005819:Genetic Markers; D005820:Genetic Testing / Q000191:economics; D060005:Genotyping Techniques; D006579:Heterozygote; D006801:Humans; D007194:India; D017354:Point Mutation; D020641:Polymorphism, Single Nucleotide; D011247:Pregnancy; D011516:Prothrombin / Q000235:genetics*; D012189:Retrospective Studies
chemical_list: D005819:Genetic Markers; C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin