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....

P-028 Prevalence of Factor V Leiden and prothrombin gene mutation G20210A in women with recurrent pregnancy loss

2013 ◽  
Vol 131 ◽  
pp. S84
Author(s):  
K. Vasilakos ◽  
D. Delkos ◽  
K. Kydonopoulou ◽  
E. Papadakis ◽  
K. Tsioni ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Pregnancy Loss ◽  
Recurrent Pregnancy Loss ◽  
Factor V Leiden ◽  
Factor V ◽  
Prothrombin Gene Mutation ◽  
Prothrombin Gene

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.

Markers of activated coagulation in patients with factor V Leiden and/or G20210A prothrombin gene mutation

2002 ◽  
Vol 107 (1-2) ◽  
pp. 7-11 ◽  
Author(s):  
I Gouin-Thibault ◽  
R Arkam ◽  
S Nassiri ◽  
A de la Tourette ◽  
J Conard ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Factor V Leiden ◽  
Factor V ◽  
Prothrombin Gene Mutation ◽  
Prothrombin Gene

Factor V Leiden and prothrombin gene mutations in Egyptian cases with unexplained recurrent pregnancy loss

Hematology ◽  
2011 ◽  
Vol 16 (1) ◽  
pp. 59-63 ◽  
Author(s):  
Ahmad Settin ◽  
Rabab Abo Alkasem ◽  
Ehab Ali ◽  
Rizk ElBaz ◽  
Abdel Megid Mashaley
Keyword(s):  
Pregnancy Loss ◽  
Recurrent Pregnancy Loss ◽  
Gene Mutations ◽  
Factor V Leiden ◽  
Factor V ◽  
Prothrombin Gene

scholarly journals Thrombophilia gene mutations in relation to recurrent miscarriage

2018 ◽  
Vol 7 (3) ◽  
pp. 796 ◽  
Author(s):  
Tawfik Abdelsalam ◽  
Tarek Karkour ◽  
Magdy Elbordiny ◽  
Dina Shalaby ◽  
Ziad S. Abouzeid
Keyword(s):  
Pregnancy Loss ◽  
Recurrent Pregnancy Loss ◽  
Recurrent Miscarriage ◽  
Gene Mutations ◽  
Factor V Leiden ◽  
Mthfr C677t ◽  
Factor V ◽  
Total Prevalence ◽  
History Of ◽  
Prothrombin Gene

Background: Recurrent pregnancy loss is multifactorial involving clinical and biological risk factors. Evidence addressed the association of inherited thrombophilia with recurrent pregnancy loss and other serious pregnancy complications. However, the relation between thrombophilia associated gene mutations and adverse obstetric outcome is controversial and data in the literature are inconsistent. The aim of this study was to investigate the prevalence of thrombophilia associated gene mutations (factor V Leiden, prothrombin gene G20210A and methylene-tetrahydrofolate reductase MTHFR C677T) in relation to recurrent miscarriage.Methods: Case control study conducted on 200 women recruited from Elshatby Maternity Hospital clinics. The cases group included 100 women with history of three or more unexplained consecutive pregnancy losses, while 100 healthy age matched women with no history of recurrent miscarriages served as controls. Blood samples were collected from all women enrolled in the study for DNA extraction and genotype analysis. Factor V, prothrombin and MTHFR gene mutations were assayed based on polymerase chain reaction (PCR) and reverse-hybridization.Results: The prevalence of Factor V Leiden and prothrombin gene G20210A mutations did not differ significantly between cases and controls. However, MTHFR C667T mutations and the total prevalence of the three gene mutations were significantly increased in the patients group compared to controls (p=0.001, p=0.003 respectively). The prevalence of combined thrombophilia of Factor V Leiden and MTHFR C677T was significantly increased in the patients group compared to controls (p=0.032). Regarding homozygosity of each of the gene mutations, no homozygosity was detected in controls and heterozygotes were significantly increased in the patients group compared to homozygotes.Conclusions: MTHFR mutations and the total prevalence of the three gene mutations were significantly increased in the patients group compared to controls. There was a significant increase in the prevalence of combined thrombophilia (Factor V Leiden and MTHFR C677T) in the patients group compared to controls without involvement of prothrombin gene.

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