title: Evaluation of chromosomal abnormalities and common trombophilic mutations in cases with recurrent miscarriage.
abstract: BACKGROUND
  Recurrent miscarriage (RM) is a frequent obstetric problem. Its' pathophysiology is poorly understood. Infections, genetic, endocrine, anatomic and immunologic problems have been suggested as causes for RM.
  
  
  OBJECTIVE
  To evaluate the frequency of chromosomal abnormalities and 3 common thrombophilic mutations in couples with RM.
  
  
  METHODS
  A retrospective data collection was performed for the results of the cytogenetic analysis of the couples and Methylenetetrahydrofolate Reductase (MTHFR) C677T, Factor V Leiden (FVL) G1691A and Prothrombin (PTm) G20210A mutations of the mother in 142 couples suffering from RM.
  
  
  RESULTS
  Prevalence of FVL, MTHFR, and PTm gene mutations were similar between cases shaving 2 or ≥3 abortions (P=0.528; P=0.233; P=0.375). In patients with FVL, MTHFR and PTm gene mutations, the OR's of having ≥3 abortions when compared to having 2 abortions were 1.515 (95% CI: 0.414-5.552), 0.573 (95% CI: 0.228-1.441), and 2.848 (95% CI: 0.355-22.871). All cases with PTm mutation had ≥3 abortions and all abortions occurred between 6-8 gestational weeks.
  
  
  CONCLUSIONS
  Chromosomal abnormalities and thrombophilic mutations (especially PTm) seem to have an important role in RM. Additional larger studies involving investigation of more genes that may have a role in pregnancy are needed to assess this association.
authors.affiliation: Abant Izzet Baysal University, Izzet Baysal Medical Faculty, Department of Obstetrics and Gynecology, Bolu, Turkey.
authors.forename: Ahmet
authors.initials: A
authors.lastname: Karatas
authors.affiliation: Duzce University Medical Faculty, Department of Medical Genetics, Duzce, Turkey.
authors.forename: Recep
authors.initials: R
authors.lastname: Eroz
authors.affiliation: Duzce University Medical Faculty, Department of Obstetrics and Gynecology, Duzce, Turkey.
authors.forename: Mustafa
authors.initials: M
authors.lastname: Albayrak
authors.affiliation: Abant Izzet Baysal University, Izzet Baysal Medical Faculty, Department of Obstetrics and Gynecology, Bolu, Turkey.
authors.forename: Tulay
authors.initials: T
authors.lastname: Ozlu
authors.affiliation: Gaziosmanpasha University Medical Faculty, Department of Obstetrics and Gynecology, Tokat, Turkey.
authors.forename: Bulent
authors.initials: B
authors.lastname: Cakmak
authors.affiliation: Duzce University Medical Faculty, Department of Obstetrics and Gynecology, Duzce, Turkey.
authors.forename: Fatih
authors.initials: F
authors.lastname: Keskin
mesh_terms: D000026:Abortion, Habitual / Q000097:blood / Q000453:epidemiology / Q000235:genetics*; D000328:Adult; D016022:Case-Control Studies; D002869:Chromosome Aberrations; D020732:Cytogenetic Analysis; D005165:Factor V / Q000032:analysis / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D009154:Mutation; D011110:Polymorphism, Genetic; D011247:Pregnancy; D015995:Prevalence; D011516:Prothrombin / Q000032:analysis / Q000235:genetics*; D012189:Retrospective Studies; D019851:Thrombophilia / Q000453:epidemiology / Q000235:genetics*
chemical_list: C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin; D042965:Methylenetetrahydrofolate Reductase (NADPH2)
keywords: Recurrent miscarriage; chromosomal abnormalities; inherited thrombophilic polymorphisms