Association of Inherited Thrombophilia with Recurrent Pregnancy Loss in Palestinian Women (original) (raw)
Related papers
Egyptian Journal of Medical Human Genetics, 2020
Background: Recurrent pregnancy loss (RPL) is a common disorder that affects around 3 to 5% of pregnant women. It has different causes, and in about 50%, it is of unknown etiology. Thrombophilia might increase the risk of RPL by adversely affecting the normal placental vascular function. Our study aimed to determine the frequency of factor V Leiden (FVL) and prothrombin G20210A gene mutations in Algerian women with RPL and to correlate their presence with the occurrence of such health's problem. A total of 80 women with previous fetal losses and 100 age-matched women with no history of fetal loss were recorded. Participants were tested for activated protein C resistance (APCR), protein C (PC), protein S (PS), and antithrombin (AT) deficiencies. The screening of FVL and prothrombin G20210A mutations was also done using a duplex polymerase chain reaction. Results: APCR was detected in 6.25% of cases and was absent in controls (p = 0.011). PC and PS deficiencies were documented in 7.5% of patients. FVL was detected in 8.33% of patients and was absent in controls (p = 0.047). Prothrombin G20210A mutation was found in 8.33% of patients compared to 11.11% of controls (p = 0.631). A significant association of FVL mutation with the abortion which occurred in the second trimester was found (p = 0.001). Conclusion: There is a significant association between FVL mutation and RPL especially the loss occurring during the second trimester. No correlation was found regarding prothrombin G20210A mutation.
Inherited Thrombophilia and Early Recurrent Pregnancy Loss among Egyptian Women
Open Journal of Obstetrics and Gynecology, 2015
Inherited thrombophilia has been implicated as a possible cause of recurrent pregnancy loss. Although numerous studies are available in literature, thrombophilia rate seems to vary from study to another. The aim of our study was to determine the frequency of FII Prothrombin (G20210A), Factor V Leiden (G1691A), as well as methyl tetrahydrofolate reductase (MTHFR C677T) polymorphisms, protein C, protein S and antithrombin III deficiency in a series of patients with unexplained RPL compared to control. Patients and Methods: 100 patients of unexplained RPL and 43 age-matched healthy controls were investigated for inherited thrombophilia. Results: MTHFR and Factor V Leiden were the commonest gene defects among cases studied (63%, 60% respectively) and control groups (41.9%, 41.9% respectively) (p = 0.019, p = 0.046 respectively). The least common deficiencies were protein S and protein C deficiency in cases (3%, 2% respectively) as well as in controls (1%, 0% respectively). 4 cases were homozygous for MTHFR and 2 cases homozygous for Factor V Leiden mutation. Odds ratio for MTHFR and Factor V mutation was 2.36 and 2.08 respectively (CI 95%). Combined defects were seen in cases and controls (p < 0.05). Conclusion: Our study found an association between MTHFR and Factor V Leiden mutations in patients with unexplained RPL among Egyptian women. Further studies are needed to define the management of genetic thrombophilia in cases of recurrent pregnancy loss.
Int J Fertil Steril, Vol 16, No 3, July-September , 2022
Recurrent pregnancy loss (RPL) complication is a challenge of reproductive medicine due to its often unknown etiology. A case-control study was carried out between June 2019 and April 2020 to examine the correlation between RPL and inherited thrombophilia (IT), namely mutations in factor V Leiden (FVL G1691A), prothrombin (FII G20210A), and methylenetetrahydrofolate reductase (MTHFR C677T). A total of 120 Lebanese women with RPL was studied and compared, for the frequency of these mutations, to 100 healthy reproductive Lebanese women. The association between the zygosity status of the three tested mutations, the existence of more than one prothrombotic single nucleotide polymorphisms (SNPs), and the increased risk of RPL were examined using Chi-square or two-tailed fisher exact test, and the student t test. The predictive factors of RPL were analyzed using a multiple logistic regression model. P<0.05 was considered to be statistically significant. Our results showed statistically significant higher frequencies of FVL G1691A and FII G20210A mutations among the cases with RPL compared to the control group. Thus, RPL is associated with FVL G1691A and FII G20210A mutations. These mutations seem to increase the risk of RPL in the Lebanese women. Therefore, we suggest thrombophilia screening and adequate genetic counseling for women with RPL and at high-risk to plan for primary prevention, avoiding thromboembolic or obstetric accidents, and reducing the associated morbidity and mortality among Lebanese women.
Inherited thrombophilia with recurrent pregnancy loss in Turkish women--a real phenomenon?
Ginekologia polska, 2012
To determine the prevalence and the role of hereditary thrombophilia caused by Factor V Leiden (G1691A), prothrombin G20210A or methylenetetrahydrofolate reductase (MTHFR) C677T gene mutations in recurrent pregnancy loss. One hundred and nine patients, who were admitted to the 3rd Obstetrics and Gynecology Outpatient Clinic in Goztepe Training and Research Hospital between 2006 and 2008, were included into the study The study group consisted of fifty-seven patients with a history of 3 miscarriages before 20 weeks of gestation and the control group consisted of forty-seven patients with at least one live birth without any history of miscarriage or pregnancy complications. The maternal blood was evaluated for Factor V Leiden (G1691A), prothrombin G20210A and MTHFR C677T gene mutations. No statistically significant difference was found between the study and the control groups in terms of the prevalence of Factor V Leiden (G1691A), prothrombin G20210A and MTHFR C677T gene mutations (p=0...
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: ...
Recurrent Pregnancy Loss and Its Relation to Combined Parental Thrombophilic Gene Mutations
Genetic Testing and Molecular Biomarkers, 2012
Background and Aim: Recurrent pregnancy loss (RPL) is a heterogeneous disorder that has been associated with antiphospholipid syndrome and other prothrombotic parameters. We aimed to investigate the prevalence of 12 thrombophilic gene mutations in RPL couples in the current results. Method: In a total of 543 Turkish women with RPL and 327 of their male partners (870 individuals with RPL), and a control group of 106 fertile couples (control) were analyzed for factor V leiden (FVL), factor V H1299R, factor II prothrombin G20210A, FXIII V34L, b-fibrinogen -455G > A, plasminogen activator inhibitor-1 (PAI-1), GPIIIa L33P (HPA-1 a/b L33P), methylenetetrahydrofolate reductase (MTHFR) C677T, MTHFR A1298C, ACE I/D, Apo B R3500Q, and Apo E genes. Results: The overall, heterozygous and/or homozygous point mutations in FVL -FVR2, ApoE2, PAI-1, MTHFR C677T -A1298C, and ACE genes were associated with RPL. There was no meaningful association between RPL and other studied genes. Conclusion: The homozygosity of 4G in PAI-1 and MTHFR C677T genes in women with RPL, and heterozygosity of FVL, FVR2, ACE, and ApoE2 genes in both parents play crucial role in RPL and should be considered as a risk factor in RPL. Current results showed that RPL is related to combined parental (not only maternal) thrombophilic gene mutations.
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.
Thrombophilia and Recurrent Pregnancy Loss: The Enigma Continues
Medical science monitor : international medical journal of experimental and clinical research, 2018
BACKGROUND Thrombophilic gene polymorphism is known to be a risk factor for recurrent pregnancy loss (RPL), but few studies have confirmed a possible role of thrombophilic genes polymorphism in RPL risk. This study was conducted to understand the relationship of the mutations of some thrombophilia-associated gene polymorphism (heterozygous/homozygous) with RPL. We compared patients with 2 abortions to patients with 3 or more abortions among Turkish women. MATERIAL AND METHODS In this study, patients previously diagnosed with habitual abortus at Obstetrics and Gynecology outpatient clinics in Turkey between 2012 and 2016 were included. In their peripheral blood, we detected factor V Leiden H1299R, prothrombin G20210A, MTHFR C677T, MTHFR A1298C, PAI-1 4G/5G, and PAI-1 4G/4G gene mutations. RESULTS In this study, we have observed statistically meaningful data (P<0.01) related to the relationship between RPL and thrombophilia-associated gene polymorphisms such as heterozygous factor ...
Hematology, 2011
Background: Thrombophilias have been suggested as a possible cause of recurrent pregnancy loss (RPL). Objective: Testing for the association of factor V Leiden (FVL) and prothrombin (FII) mutations with RPL among cases from the Nile Delta region of Egypt. Subjects and methods: Participants included 72 cases having a history of two or more events of unexplained RPL and 70 controls with a good obstetric history. Detection of FVL (G1691A) and FII (G20210A) mutations was carried out using PCR with sequence specific primers. Results: Cases showed a significantly higher frequency of FVL GA (OR521.38, P,0.0001) and FII GA (OR536.7, P,0.0001) genotypes. Cases with two or more risk factors had significant higher frequency of both mutant genotypes, while no significant difference could be elicited related to primary or secondary infertility, number of fetal losses, or phase of pregnancy loss. Conclusion: Screening for thrombophilic mutations may help in the prevention of unexplained RPL.