Ahmet Karatas1, Recep Eroz2, Mustafa Albayrak3, Tulay Ozlu1, Bulent Cakmak4, Fatih Keskin3. 1. Abant Izzet Baysal University, Izzet Baysal Medical Faculty, Department of Obstetrics and Gynecology, Bolu, Turkey. 2. Duzce University Medical Faculty, Department of Medical Genetics, Duzce, Turkey. 3. Duzce University Medical Faculty, Department of Obstetrics and Gynecology, Duzce, Turkey. 4. Gaziosmanpasha University Medical Faculty, Department of Obstetrics and Gynecology, Tokat, Turkey.
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. 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.
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.
Authors: Carolyn B Coulam; Diane Wallis; Jordan Weinstein; Dipankar S DasGupta; Rajasingam S Jeyendran Journal: Am J Reprod Immunol Date: 2008-11 Impact factor: 3.886