Pregnancy Outcome in Patients with a History of Recurrent Spontaneous Miscarriages and Documented Thrombophilias (original) (raw)
Related papers
Inherited Thrombophilia and Recurrent Pregnancy Loss
Iranian Red Crescent Medical Journal, 2013
Background: Recurrent pregnancy loss (RPL) is a common health problem. The polymorphisms G20210A of prothrombin gene (FII G 20210A), and G 1691A of factor V gene (Factor V Leiden, FVL) are the most extensively studied thrombophilic mutations in association to recurrent miscarriage. Objectives: To determine the frequency of FII G20210A and FVL polymorphisms as well as protein C and protein S deficiency in a series of patients with RPL compared with control group. Patients and Methods: The study group included 90 randomly selected patients with three or more consecutive miscarriages with the same partner in <20 weeks gestation in 2012. The control population consisted of 44 age-matched women with at least one live born children and no history of pregnancy loss. Functional activity of protein C and S, activated protein C resistance, FVL assay by polymerase chain reaction and prothrombin gene mutation were assessed. The polymorphism frequencies were recorded for each group and comparisons were made. Results: The mean functional activity of protein C and protein S were not significantly different between case and control groups (P >0.05). Frequency of protein C deficiency was also not significantly different between the case and control groups (P=0.906), but frequency of protein S deficiency was significantly higher in patients than controls (P=0.03). Genotype pattern of the patients and healthy individuals were not significantly different with regard to either FVL or Prothrombin G20210A (P > 0.05). Conclusions: We determined a significant higher frequency of protein S deficiency in patients with RPL compared with controls. But the frequency of protein C deficiency and the frequency of two common thrombophilic mutations (Factor V Leiden and Prothrombin G20210A), were not significantly different between patients with recurrent miscarriage and healthy women.
The impact of hereditary thrombophilias in recurrent pregnancy loss
Genetika
Introduction: Recurrent pregnancy loss (RPL) is defined as two or more consecutive pregnancy loss which occurs before the 20th weeks of pregnancies for the last menstrual period. Hereditary cause of thrombophilic gene mutations and polymorphism may play an essential role in RPLs. Material and Method: 291 women with a history of two or more consecutive abortions as a study group and 61 women without the history of miscarriages as a control group were included in a study. In this study we analysed the effects of Factor II Prothrombin mutation ,FV Leiden mutation, MTHFR C677T, MTHFT A1298C, PAI-1, ?-fibrinogen, Factor XIIIA (V34L) and Glycoprotein IIIa (L33P) polymorphisms on RPL by using pyrosequencing. Chi-square and multiple regression analysis were used for statistical analysis. Results: FII prothrombin mutation, FV Leiden mutation, MTHFR C677T, MTHFR A1298C, PAI1 and Beta fibrinogen were found statistically significant in the chi-square test. Heterozygous FV G1691A (OR:8.092, CI: ...
Fertility and Sterility, 2002
Objective: To assesses the live birth rate without treatment in women with hereditary thrombophilia who have recurrent miscarriage and women without thrombophilia who have recurrent miscarriage. Design: Prospective observational study. Setting: Tertiary referral unit in university hospital. Patient(s): One hundred twenty women with thrombophilia and 65 women without thrombophilia. Main Outcome Measure(s): Number of live births or repeated miscarriages. Results: Of the 185 patients, 44 with thrombophilia and 26 without thrombophilia have conceived. Nineteen of the 44 pregnancies (43.2%) in thrombophilia patients have terminated in live births, compared with 8 of 26 pregnancies (30.8%) in patients without thrombophilia. This difference is not statistically significant. Conclusions: Hereditary thrombophilia did not seem to affect the live birth rate in women with recurrent miscarriage.
Genetic thrombophilic mutations among couples with recurrent miscarriage
Human Reproduction, 2006
BACKGROUND: Some cases of recurrent first trimester miscarriage (RM)-the loss of three or more consecutive pregnancies at <12 weeks' gestation-have a thrombotic aetiology. METHODS: We determined (i) the prevalence of three thrombophilic mutations [factor V Leiden (FVL), prothrombin G20210A (PTG) and methylenetetrahydrofolate reductase (MTHFR) C677T] amongst 357 Caucasian couples with RM and 68 parous Caucasian couples with no history of miscarriage and (ii) the prospective outcome of untreated pregnancies amongst couples with RM in which either partner carried a thrombophilic mutation. RESULTS: The allele frequencies of FVL (2%), PTG (2%) and MTHFR C677T (31%) were similar between cases and controls. The prevalence of multiple thrombophilic mutations (greater than one mutation) was also similar between cases and controls. Amongst couples in whom either partner carried greater than one thrombophilic allele, the relative risk of miscarriage in a future untreated pregnancy was 1.9 (95% confidence interval, 1.3-2.8) compared with those couples who carried no thrombophilic mutation. CONCLUSION: The prevalence of thrombophilic mutations is similar in couples with RM and parous controls. In couples with RM, multiple genetic thrombophilic mutations in either partner significantly increases the risk of miscarriage in a subsequent pregnancy.
Obstetrics & Gynecology Science, 2015
The cause of recurrent miscarriage (RM) remains unexplained in approximately 30% to 50% cases. The association of inherited thrombotic factors and RM patients has not been documented from the northern part of India. A total of 40 patients had been investigated for inherited thrombophilia workup (protein C, protein S [PS], antithrombin III, and factor V Leiden [FVL] mutation) over a period of 10 years (2005 to 2014). RM patients were divided in to three groups. Group I (only 1st trimester loss), group II (only 2nd and 3rd trimester), and group III (mixed). Each group comprised of the following numbers of patients respectively: I, 24; II, 2; III, 14. Heterozygous FVL mutation was found in 10% (4/40) cases. PS deficiency was detected in 2.7% (1/37) cases. In the present study FVL and PS were seems to be associated with a subset of patients however further studies with larger numbers of patients are recommended for better evaluation.
Thrombophilic Gene Mutations in Women with Repeated Spontaneous Miscarriage
Genetic Testing and Molecular Biomarkers, 2010
Aim: One of the main problems concerning repeated spontaneous miscarriage (RSM) is the etiological diagnosis. Thrombophilia and its relation to RSM is a matter of debate. In this case-control study, we determined the percentages of three thrombophilic mutations (factor V leiden, prothrombin, and methylenetetrahydrofolate reductase) amongst 20 cases with RSM and 20 control normal parous women. Results: There were high statistically significant increases in the number of cases with factor V, prothrombin, and methylenetetrahydrofolate reductase gene mutations compared with normal control and the percentage of multiple gene mutations was higher than single gene mutation. Conclusion: The prevalence of thrombophilic mutations is higher in cases of RSM than control.
2016
Introduction: Three or more pregnancy losses before 20 weeks of gestation are usually defined as recurrent miscarriage. Parental chromosomal translocations, thrombophilic gene polymorphisms, autoimmune factors, uterine, endocrine factors associated with recurrent miscarrige (RM). Factor V Leiden, prothrombin gene mutation G20210A, protein S/Protein C/antithrombin deficiency and MTHFR mutations responsible for hereditary thrombophilia and has been included to keep a very common practice of RM pathogenesis. This study aimed to determine the incidence of these factors believed to be the effects of RM. Materials and methods: All patients were took a full genetic analysis; full genetic examination and pedigree drawing was done to exclude known nonchromosomal causes of the anomaly. Cytogenetic analysis was done for 635 patients. The study included peripheral lymphocyte culture by a standard method using Leishmann-banding technique, centromerebanding (C-banding), and nucleolar organizing r...
Association Between Thrombophilia Gene Polymorphisms and Recurrent Pregnancy Loss
Revista de Chimie
Spontaneous miscarriage is reported in approximately 15% of the clinically recognized pregnancies. Several reports have showed an increased risk of miscarriage in patients with thrombophilia, but due to the heterogeneity of study design the role thrombophilic factors and the use of anticoagulant therapy in prevention of pregnancy loss is still unclear. The current study includes 55 patients for which we ran a screening of the most commonly inherited thrombophilia mutations (FVL, FII, MTHFR C677T/A1298, PAI 4G/5G mutations). We found that most of the patients (92.72%) associated mutation in at least 2 of the genes evaluated. Only a small number of patients (7.27%) had a single variant identified. We have found high prevalence of the studied variants in the pregnant patients that experience pregnancy loss, with risk allele frequencies increased from 2 to 11 times as compared to the general population. We consider that evaluation of the trombophilic variants should be indicated for pat...