Evaluation of Chromosomal Abnormalities and Common Trombophilic Mutations in Cases with Recurrent Miscarriage

  • Ahmet Karatas
  • Recep Eroz
  • Mustafa Albayrak
  • Tulay Ozlu
  • Bulent Cakmak
  • Fatih Keskin


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. Conclusion: 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.

Keywords: Recurrent miscarriage, chromosomal abnormalities, inherited thrombophilic polymorphisms

African Health sciences Vol 14 No. 1 March 2014

Author Biographies

Ahmet Karatas
Assistant Professor in Obstetrics and Gynecology
Recep Eroz
Assistant Professor in Medical Genetics
Mustafa Albayrak
Assistant Professor in Obstetrics and Gynecology
Tulay Ozlu
Assistant Professor in Obstetrics and Gynecology
Bulent Cakmak
Assistant Professor in Obstetrics and Gynecology
Fatih Keskin
Resident in Obstetrics and Gynecology

Journal Identifiers

eISSN: 1680-6905