scholarly journals Lack of Association between Recurrent Pregnancy Loss and Inherited Thrombophilia in a Group of Colombian Patients

Thrombosis ◽  
2012 ◽  
Vol 2012 ◽  
pp. 1-6 ◽  
Author(s):  
Henry Cardona ◽  
Serguei A. Castañeda ◽  
Wálter Cardona Maya ◽  
Leonor Alvarez ◽  
Joaquín Gómez ◽  
...  
Keyword(s):  
Protein C ◽  
Pregnancy Loss ◽  
Recurrent Pregnancy Loss ◽  
Methylenetetrahydrofolate Reductase ◽  
Statistical Significance ◽  
Activated Protein C ◽  
Factor V Leiden ◽  
Prothrombin G20210a ◽  
Activated Protein C Resistance ◽  
Inherited Thrombophilia

Studies have shown an association between recurrent pregnancy loss and inherited thrombophilia in Caucasian populations, but there is insufficient knowledge concerning triethnic populations such as the Colombian. The aim of this study was to evaluate whether inherited thrombophilia is associated with recurrent pregnancy loss. Methods. We conducted a case-control study of 93 patients with recurrent pregnancy loss (cases) and 206 healthy multiparous women (controls) in a Colombian subpopulation. Three single nucleotide polymorphisms (SNPs) markers of the inherited thrombophilias factor V Leiden, prothrombin G20210A, and methylenetetrahydrofolate reductase C677T were genotyped by PCR-RFLP. Activated protein C resistance and plasma levels of antithrombin, protein C, and protein S were also measured. Results. The frequency of thrombophilia-associated SNPs, activated protein C resistance, and anticoagulant protein deficiencies, was low overall, except for the methylenetetrahydrofolate reductase C677T SNP. The differences between patients and controls had no statistical significance. Conclusion. Our study confirms the low prevalence of inherited thrombophilias in non-Caucasian populations and it is unlikely that the tested thrombophilias play a role in the pathogenesis of recurrent pregnancy loss in this Colombian population.

Contribution of the Cystathionine β-Synthase Gene (844ins68) Polymorphism to the Risk of Early-onset Venous and Arterial Occlusive Disease and of Fasting Hyperhomocysteinemia

2000 ◽  
Vol 84 (10) ◽  
pp. 576-582 ◽  
Author(s):  
Raffaella de Franchis ◽  
Isabella Fermo ◽  
Giuseppina Mazzola ◽  
Gianfranco Sebastio ◽  
Giovanni Di Minno ◽  
...  
Keyword(s):  
Early Onset ◽  
Gene Polymorphisms ◽  
Protein C ◽  
Methylenetetrahydrofolate Reductase ◽  
Statistical Significance ◽  
Activated Protein C ◽  
Mthfr Gene ◽  
Occlusive Disease ◽  
Activated Protein C Resistance ◽  
Increased Risk

SummaryThe frequency of the heterozygous 844ins68 mutation of the cystathionine β-synthase (CBS) gene and of its association with the homozygous C677T transition of the methylenetetrahydrofolate reductase (MTHFR) gene, plasma fasting tHcy, folate and vitamin B12 levels were evaluated in 309 consecutive patients with objectively diagnosed early-onset venous (n = 200) or arterial thromboembolic disease (n = 109) recruited over 25 months in Milan (North Italy) and Naples (South Italy). The above gene polymorphisms were also evaluated in a population of 787 unmatched controls, 204 of whom – similar to patients for age- and sex-distribution – had fasting tHcy, vitamins and activated protein C resistance measured in their plasma.Moderate fasting hyperhomocysteinemia was detected in 15.5% of patients and in 5.9% of 204 controls (Mantel-Haenszel OR after stratification for type of occlusive disease and gender: 2.88; 1.48–5.32). The frequencies of the 677TT mutation of the MTHFR gene and of the heterozygous 844ins68 insertion of the CBS gene were not significantly different in the patient (19.4% and 6.9%) and the control population (16.5% and 7.8%), but the association of the two gene polymorphisms – found in 3.9% of patients and in 1.1% of controls – was significantly associated with an increased risk of venous or arterial occlusive diseases (RR = 3.63; 1.48–8.91). The MTHFR 677TT mutation (RR: 6.92; 3.86–12.4) and its association with the 844ins68 insertion (RR: 21.9; 8.35–57.4), but not the isolated insertion (RR: 0.71), were more frequent in patients and controls with fasting hyperhomocysteinemia than in normohomocysteinemic subjects, irrespective of the type of occlusive disease (venous or arterial). When adjusted for determinants of hyperhomocysteinemia in the patient and the control populations (generalized linear model), fasting tHcy levels were significantly higher in subjects with association of the two gene abnormalities (24.2 ± 3.8 µmol/L) than in subjects with the MTHFR 677TT mutation only (14.0 ± 5.8 µmol/L, p = 0.004). Activated protein C resistance was significantly more prevalent in venous patients (9.9%) than in controls (3.9%, OR = 2.69; 1.08–6.88). Six of 21 venous patients with APCresistance also had hyperhomocysteinemia (RR = 5.04; 0.68–37.6), but isolated fasting hyperhomocysteinemia retained statistical significance for the association with venous occlusive disease (RR = 2.84; 1.34–6.01).Heterozygosity for the 844ins68 mutation of the CBS gene is not per se a risk factor for premature arterial and/or venous occlusive diseases. However, when detected in combination with thermolabile MTHFR, it increases by almost 4-fold the risk of occlusive diseases (arterial and/or venous), by increasing the risk and the degree of fasting hyperhomocysteinemia.

scholarly journals Frequency of Thrombophilic Gene Mutations in Patients with Deep Vein Thrombosis and in Women with Recurrent Pregnancy Loss

2017 ◽  
Vol 12 (1) ◽  
pp. 162-166 ◽  
Author(s):  
Mahmoud Mohamed Elgari ◽  
Nadir Ahmed Ibrahim ◽  
Abdel Rahim Mahmoud Muddathir ◽  
Faris Mergheni Eltoom ◽  
Ibrahim M Ibrahim
Keyword(s):  
Deep Vein Thrombosis ◽  
Protein C ◽  
Pregnancy Loss ◽  
Recurrent Pregnancy Loss ◽  
Factor V Leiden ◽  
Protein S ◽  
Prothrombin G20210a ◽  
Factor V ◽  
Vein Thrombosis ◽  
Deep Vein

AbstractThrombophilia may be anticipated by single or combined hereditary defects in encoding genes factor V, Prothrombin, and MTHFR. The aim of this study was to determine the prevalence and associated risks of V Leiden (G1691A), Prothrombin (G20210A), and MTHFR (C677T) mutations in Saudi women with Deep Vein Thrombosis (DVT) and women with recurrent pregnancy loss (RPL). Protein C and protein S activity were measured to determine combined effects, if any. We examined 60 women with a history of DVT and 60 with RPL, extracted DNA from EDTA blood and determined three mutations by using multiplex PCR reactions followed by Strip Assay KIT. Pro C Global assay was used to determine the cutoff value [PCATNR = 0.80]. Protein C/S chromogenic assay was used to estimate protein C and S percentages. Frequency of Factor V Leiden G/A genotype in patients with DVT 7 (11.6%) had a significant association for DVT χ2 (OR = 5.1, P = 0.03). In women with RPL the three mutations did not show any significant association, levels of Protein C, protein S and PCAT-NR in patient groups not different from controls (P > 0.05). In conclusion, we recommend expanding on these data to provide larger-scale studies.

Inherited Thrombophilia In Omani Women with Recurrent Pregnancy Loss

Blood ◽  
2010 ◽  
Vol 116 (21) ◽  
pp. 5124-5124
Author(s):  
Khalil Al Farsi ◽  
Shoaib Al Zadjali ◽  
Karima Al Falahi ◽  
Murtadha K. Al-Khabori ◽  
Anil Pathare ◽  
...  
Keyword(s):  
Research Funding ◽  
Protein C ◽  
Pregnancy Loss ◽  
Recurrent Pregnancy Loss ◽  
Median Number ◽  
Prothrombin G20210a ◽  
Control Group ◽  
Molecular Testing ◽  
Inherited Thrombophilia ◽  
Thrombophilia Testing

Abstract Abstract 5124 Background: Recurrent pregnancy loss (RPL) is a common clinical problem. Inherited thrombophilia has been reported to be associated with RPL by different groups. Methods: We retrospectively analyzed the records of women who had thrombophilia testing for RPL, defined as 2 or more pregnancy losses, between the period of June 2006 and June 2010. The following thrombophilic disorders were included: protein C deficiency (PC), protein S deficiency (PS), anti-thrombin deficiency (AT), activated protein C resistance (APCR) and more recently, as molecular testing became available at our institution, factor V G1691A (FVL), prothrombin G20210A (PTG) and Methyl tetrahydrofolate reductase C677T (MTHRF) mutations. Women were excluded if testing was only done during pregnancy or in the immediate post-partum period. Results: A total of 136 women were identified. Median age was 32 (range: 18–44) with a median number of RPL of 3 (range: 2–11). Median number of first trimester losses was 2 (range 0–11). Two women had only second trimester losses and one had only third trimester losses. PS deficiency was identified in 8 women (5.8%), PC deficiency in 3 (2.2%), AT deficiency in 1 (0.7%) and APCR in 1 (0.7%). Of 30 women who had genetic analysis by PCR, 8 had abnormal results (MTHFR: 4 heterozygous, 1 homozygous; FVL: 2 heterozygous and PTG: 1 heterozygous). We did not find any correlation between the number of RPLs and the finding of a positive thrombophilia screen in the overall group or in the group of women who had molecular testing. Conclusion: Inherited thrombophilia is not as common in our patient population as described in other groups. However, a prospective study with a control group and a full panel of thrombophilia testing is needed to assess the prevalence and significance of such defects in women with RPL. Disclosures: Pathare: Sultan Qaboos University: Employment, Research Funding. Alkindi:Sultan Qaboos University: Employment, Research Funding.

scholarly journals Thrombofilias and the risk of recurring pregnancy loss in a Mexican population

2020 ◽  
Vol 11 (6) ◽  
Author(s):  
Vargas Hernández Víctor Manuel ◽  
Luján Irastorza Jesús Estuardo ◽  
Durand Montaño Carlos ◽  
Kava Braverman Alejandro ◽  
Hernández Ramos Roberto ◽  
...  
Keyword(s):  
Pregnancy Loss ◽  
Recurrent Pregnancy Loss ◽  
Methylenetetrahydrofolate Reductase ◽  
Factor V Leiden ◽  
Plasminogen Activator Inhibitor ◽  
Prothrombin G20210a ◽  
Factor V ◽  
Plasminogen Activator Inhibitor 1 ◽  
Cross Sectional ◽  
Perinatal Data

Background: Recurrent gestational loss (RPL) is defined by the ESHRE as the loss of 2 or more consecutive pregnancies. The objective of this study is to evaluate the relationship of Factor V Leiden (FVL, G1691A), prothrombin G20210A (PRT, G20210A), methylenetetrahydrofolate reductase G677A (MTHFR C677AT) and plasminogen activator inhibitor-1 (4G/5G) (PAI-1, 4G/5G); with recurrent gestational loss and perinatal data of Mexican women. Material and method: Retrospective, observational and cross-sectional study, which includes 277 pregnancies of 95 women and three groups were formed: 1) Control: deliveries of patients without pregnancy loss, without problems during the development of pregnancy and with a study of hereditary thrombophilias, 2) idiopathic fetal death : Deliveries of patients with idiopathic gestational loss (=1) and with study of thrombophilias, and 3) recurrent pregnancy loss. Deliveries of patients with idiopathic recurrent pregnancy loss and with study of hereditary thrombophilias; patient data was collected; age, weight and height, newborn data, weeks of gestation, weight and height, which are reported with mean ± standard error and analyzed with the student's t test, and thrombophilias, cesarean sections, deliveries and spontaneous abortions are reported in percentages and analyzed with chi2, in both cases the SPSS version 25 statistical package was used. Results: Of the 95 women included there were no significant differences in age, weight and height in the different rates of each group; one of the thrombophilias to be evaluated in the different populations, it was observed that FVL-G1691A only occurs in recurrent pregnancy loss (15.4%); the translation of homozygous and heterozygous, it was observed that FVL-G1691A only appeared in recurrent pregnancy loss, perinatal data showed a decrease in the weeks of gestation in newborns of mothers with recurrent pregnancy loss, with a decrease in weight and size. Conclusions: the presence of inherited maternal thrombophilias increases the risk of recurrent pregnancy loss, premature birth, and decreased weight and height at birth.

P-096 Study of the correlation between Factor V-Leiden and resistance to activated protein C in women with a history of recurrent pregnancy loss

2013 ◽  
Vol 131 ◽  
pp. S101-S102
Author(s):  
K. Vasilakos ◽  
K. Kydonopoulou ◽  
D. Delkos ◽  
D. Pavlou ◽  
E. Papadakis ◽  
...  
Keyword(s):  
Protein C ◽  
Pregnancy Loss ◽  
Recurrent Pregnancy Loss ◽  
Activated Protein C ◽  
Factor V Leiden ◽  
Factor V ◽  
History Of

scholarly journals Lack of Association between Factor V Leiden G1691A, Prothrombin G20210A, MTHFC677T Mutations, and Early Recurrent Pregnancy Loss in a Group of Sudanese Women

2020 ◽  
Vol 8 (B) ◽  
pp. 553-557
Author(s):  
Asaad Ma. Babker ◽  
Itedal Abdelraheem Mohamed Ahmed ◽  
Marwan Ismail ◽  
Fathelrahman Mahdi Hassan ◽  
Ahmed L. Osman ◽  
...  
Keyword(s):  
Pregnancy Loss ◽  
Recurrent Pregnancy Loss ◽  
Statistical Significance ◽  
Factor V Leiden ◽  
Reproductive Age ◽  
Prothrombin G20210a ◽  
Control Group ◽  
Case Group ◽  
Factor V ◽  
Low Prevalence

BACKGROUND: Recurrent pregnancy loss is classically defined as the occurrence of three or more consecutive pregnancy loss. Recurrent pregnancy loss affects from 1-5% of the reproductive age couples. This diagnosis is both emotionally challenging and confusing for most couples, as the definitive diagnosis using conventional evaluations is found in fewer than half of the couples experiencing repeated loss. AIM: The purpose of this study was to define the association between Factor V Leiden G1691A, Prothrombin G20210A, MTHFC677T mutations and recurrent pregnancy loss in a group of Sudanese women. MATERIALS AND METHODS: This a retrospective analytical case control study was carried out at Omdurman Maternal Hospital, Sudan between July 2013 to July 2015. Consent was obtained from the ethical committee of the Faculty Research Board and Hospital of Omdurman Maternity Hospital (Sudan). The study included a hundred pregnant females with a history of recurrent spontaneous abortion as the (case group) and ninety-five healthy reproductive Sudanese women as the (control group). The data was collected with the help of a structured questionnaire and direct interview to collect information. Identification of point mutation in factor V Leiden G1691A, prothrombin G20210A and MTHF C677T gene by polymerase chain reaction was performed. The odds ratio and the 95% confidence interval (95%CI) were calculated for the presence of mutation case group and the control group and analyzed by SPSS program, version 17.0. RESULTS: The frequency of prothrombin G20210A, MTHFC677T, was low overall, except for the Factor V Leiden G1691A. The differences between patients and controls had no statistical significance (P- Value>0.05). CONCLUSION: Our study confirms the low prevalence of inherited thrombophilias in Sudanese populations and it is unlikely that the tested thrombophilias play a role in the pathogenesis of recurrent pregnancy loss in the Sudanse population.Therefore, we conclude that the low prevalence of Factor V Leiden, prothrombin G20210A and MTHFC677T in Sudanese women with RPL and does not play a role in the pathogenesis of recurrent pregnancy loss among our population.

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