Can Factor V Leiden and Prothrombin G20210A Testing in Women With Recurrent Pregnancy Loss Result in Improved Pregnancy Outcomes? Results From a Targeted Evidence-Based Review

2012 ◽  
Vol 67 (5) ◽  
pp. 273-275
Author(s):  
Linda A. Bradley ◽  
Glenn E. Palomaki ◽  
Jessica Bienstock ◽  
Elizabeth Varga ◽  
Joan A. Scott
Keyword(s):  
Pregnancy Outcomes ◽  
Pregnancy Loss ◽  
Recurrent Pregnancy Loss ◽  
Factor V Leiden ◽  
Prothrombin G20210a ◽  
Evidence Based ◽  
Factor V

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.

Association of factor V Leiden G1691A and prothrombin gene G20210A mutations with adverse pregnancy outcomes

2021 ◽  
pp. 1-15
Author(s):  
Sidra Asad Ali ◽  
Bushra Moiz ◽  
Lumaan Sheikh
Keyword(s):  
Gene Mutation ◽  
Pregnancy Outcomes ◽  
Pregnancy Loss ◽  
Recurrent Pregnancy Loss ◽  
Factor V Leiden ◽  
Control Group ◽  
Factor V ◽  
Prothrombin Gene Mutation ◽  
Prothrombin Gene ◽  
Adverse Pregnancy

Abstract Objective: To determine the association of Factor V Leiden / prothrombin gene mutation in Pakistani women with adverse pregnancy outcomes. Method: The prospective study was conducted at the Aga Khan University Hospital, Karachi, from January 1 to December 31, 2016, and comprised females ?40 years having history of two or more foetal losses with no apparent aetiology. Restriction fragment length polymorphism- Polymerase chain reaction was performed using MnlI and HindIII restriction enzymes for factor V Leiden G1691A and prothrombin gene mutation G20210A. Females with two or more consecutive normal pregnancies were enrolled as the control group. Data was analysed using SPSS 19. Results: Of the 172 participants with a mean age of 29.3±5.9 years (range: 19-38 years). 86(50%) each were healthy controls and those with recurrent pregnancy loss. There were 238 livebirths among the controls compared to 13 in the other group. Factor V Leiden G1691A was identified in 2(2.3%) women, and prothrombin gene mutation G20210A in 1(1.2%) woman in the patient group, while no mutation was identified in the control group. Conclusion: The prevalence of Factor V Leiden / prothrombin gene mutation in women with recurrent pregnancy loss was found to be very low. Continuous....

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.

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.

scholarly journals Hereditary thrombophilia and adverse pregnancy outcomes

2021 ◽  
Vol 64 (3) ◽  
pp. 68-77
Author(s):  
Valentin Friptu ◽  
◽  
Diana Mitryuk ◽  
Olga Popusoi ◽  
◽  
...  
Keyword(s):  
Gene Mutation ◽  
Pregnancy Outcomes ◽  
Intrauterine Growth Restriction ◽  
Pregnancy Loss ◽  
Recurrent Pregnancy Loss ◽  
Fetal Loss ◽  
Factor V Leiden ◽  
Factor V ◽  
Intrauterine Growth ◽  
Adverse Pregnancy

Background: Multiple studies have found a relatively increased risk of placenta-mediated pregnancy complications in women with congenital thrombophilia, especially early recurrent pregnancy loss, fetal loss, early-onset preeclampsia, intrauterine growth restriction, and premature abruption of normally positioned placenta. However, the extent of the association and the absolute risk are very modest, but they significantly increase in pregnant women with severe obstetric complications. Conclusions: There is convincing evidence that deficiency of natural anticoagulants (antithrombin, protein C, protein S) is a risk factor for late fetal loss. Factor V Leiden G1691A gene mutation and prothrombin G20210A gene mutation are associated with a double risk for early and unexplained recurrent pregnancy loss and for non-recurrent late fetal loss. The association of congenital thrombophilia with preeclampsia is much more uncertain, being probably limited factor V Leiden G1691A gene mutation and more severe cases of preeclampsia. Fewer data are available on intrauterine growth restriction (IUGR) and premature abruption of the normally positioned placenta. There is insufficient evidence to suggest an association of other forms of congenital thrombophilia with adverse pregnancy outcomes. In addition, genetic and epidemiological research suggests that placenta-mediated pregnancy complications are of polygenic multifactorial etiology, with a risk determined by the interaction of multiple genetic variants and other risk factors.

scholarly journals Association of The Mthfr C677t, Factor V (Leiden) G1961a and Prothrombin G20210a Gene Mutations with Recurrent Spontaneous Aboration (Rsa) in Duhok Province

2018 ◽  
Vol 6 (3) ◽  
pp. 85-88
Author(s):  
Shaima S. Mohammed ◽  
Rana A. Al-Timimy ◽  
Jinan N. Hassan ◽  
Najat T. Mahmood
Keyword(s):  
Early Pregnancy ◽  
Pregnancy Loss ◽  
Recurrent Pregnancy Loss ◽  
Factor V Leiden ◽  
Pcr Amplification ◽  
Mthfr C677t ◽  
Genetic Mutation ◽  
Prothrombin G20210a ◽  
Factor V ◽  
Early Pregnancy Loss

Genetic causes of thrombophilia have been suggested as a possible cause of recurrent pregnancy loss (RPL). Fifty female patients aged between 21- 40 years and experienced at least two times early pregnancy loss were enrolled in the current study. Blood samples were aspirated, infectious (TORCH), hormonal (gonadotrophines, steroids, and thyroid hormones), ultrasonic, and serological (anti-lupus and anti-phospholipid antibodies) evaluations were conducted to exclude any individual candidate who had been suspected to have causes of early pregnancy loss rather than the genetic attribute. DNA from each particular sample was extracted by components of (FVL-PTH and MTHFR)StripAssay®A kit Vienna Lab Diagnostics GmbH, Vienna, Austria).this kit includes three steps: (1) DNA isolation, (2) Multiplex PCR amplification was performed by using biotinylated primers, for detecting different mutations in the three genes of interest (FVL-PTH and MTHFR) (3) Hybridization of amplification products to a test strip containing allele-specific oligonucleotide probes immobilized as an array of parallel lines. The results revealed that 24 samples out of 50 had MTHFR C677T mutations while 2 samples only had   FV (G1691A)mutation while prothrombin mutation (G20210A)has not been detected. In conclusion: genetic mutation had significant impact in patients suffered recurrent pregnancy loss.

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