Thrombophilia gene mutations in relation to recurrent miscarriage

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

Hematology ◽

10.1179/102453311x12902908411959 ◽

2011 ◽

Vol 16 (1) ◽

pp. 59-63 ◽

Cited By ~ 5

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

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

Thrombosis Research ◽

10.1016/s0049-3848(13)70074-4 ◽

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

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

Journal of the Pakistan Medical Association ◽

10.47391/jpma.1377 ◽

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....

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Factor V leiden and Prothrombin Gene Mutations: Differences by Gender

Blood ◽

10.1182/blood.v120.21.5135.5135 ◽

2012 ◽

Vol 120 (21) ◽

pp. 5135-5135

Author(s):

Camila Sahebi ◽

Alice J. Cohen ◽

Mirza Hamza Parvez Mughal

Keyword(s):

Lower Extremity ◽

Gene Mutation ◽

Gene Mutations ◽

Factor V Leiden ◽

Factor V ◽

Vein Thrombosis ◽

Time To Recurrence ◽

History Of ◽

Prothrombin Gene ◽

Deep Vein

Abstract Abstract 5135 Background: Factor V Leiden (FVL) and prothrombin gene mutation (PT) are the most common cause of inherited thrombophilia in Caucasian populations, accounting for 40 to 50 % of cases. The incidence of inherited thrombophilia in subjects with a deep vein thrombosis ranges from 24 to 37 %. Women with factor V Leiden or prothrombin gene mutation have a substantially increased risk of clotting in pregnancy and on estrogen -containing birth control pills or hormone replacement in the form of deep vein thrombosis (DVT) and pulmonary embolism (PE). There have been multiple studies done in regards to thrombophilia in women but few reports specific to the behavior of these mutations in men. Objective: To investigate the difference in clinical presentations of men vs women with Factor V Leiden and prothrombin gene mutations. Methods: A retrospective study of patients (pts) over the age of 18 years (yrs) with FVL and PT mutation with history of thrombosis was conducted. These pts were followed in Comprehensive Hemophilia and Thrombosis Disorder Center at Newark Beth Israel Medical Center (NBIMC). Results: 72 pts with symptomatic diagnoses of FVL or PT mutation were identified. The female to male ratio was (43/17) 2:1. Of the male patients 13/17 (76%) had FVL mutation and 4/17(24%) had PT gene mutation. The mean age was 32 yrs (range18–54 yrs). The majority, 15/17(88%) had a lower extremity DVT; 2/17(12%) had PE at presentation. 13/15(86%) of the DVTs were provoked: 5/13 (38%) had surgery, 5/13(38%) had history of recent travel, 3/13(24%) had history of trauma. Of the male pts 11/17 (65%) of the pts had a family history of thrombophilia. 9/17 (53%) had a second thrombotic event with a mean time of 10 yrs (range 1–30 years). Of the female pts 31/43(72%) were diagnosed with FVL gene mutation and 12/43(28%) with PT mutation. The mean age was 32 yrs (18–79 yrs). Of the females 13/43(30%) presented with pregnancy loss, 11/43(23%) with a provoked lower extremity DVT [ 3/43 (6%) had history of oral contraceptive pills use, 5/43(12%) with recent surgery, 2/43(5%) with pregnancy, 1/43(2%) with travel history], 5/43 (12%) had unprovoked DVT, and 13/43(30%) had other thrombotic events (2/43 (5%)CVA, 1/43 (2%)neck vein thrombosis, 1/43(2%) arteriovenous fistula thrombosis, 6/43 (14%) PE, 1/43(2%)with retinal artery thrombosis, 1/43 (2%) with mesenteric ischemia, and 1/43(2%) with portal vein thrombosis). In this group 21/43(49%) had a family history of thrombophilia. Second events occurred in 8/43(18%) with a mean time to recurrence of 7 yrs (range 1–41 yrs). Conclusion: Clinical presentations in patients with FVL and PT mutations differ between males and females including location, time to recurrence and associated conditions. First events in females included both arterial and venous thrombosis and were predominantly hormone related. In contrast, the most common site of thrombosis in our male pts was a provoked lower extremity venous thrombosis especially post surgery and prolonged travel. Additionally, males had higher recurrent events. Prospective long term outcome studies of patients and their asymptomatic family members are necessary to confirm these differences. Disclosures: No relevant conflicts of interest to declare.

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MTHFR C677T and Factor V Leiden in Recurrent Pregnancy Loss: A Study Among an Endogamous Group in North India

Genetic Testing and Molecular Biomarkers ◽

10.1089/gtmb.2009.0063 ◽

2009 ◽

Vol 13 (6) ◽

pp. 861-865 ◽

Cited By ~ 23

Author(s):

Rupak Mukhopadhyay ◽

Kallur N. Saraswathy ◽

Pradeep K. Ghosh

Keyword(s):

Pregnancy Loss ◽

Recurrent Pregnancy Loss ◽

Factor V Leiden ◽

Mthfr C677t ◽

North India ◽

Factor V ◽

Endogamous Group

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First Korean case of factor V Leiden mutation in pregnant woman with a history of recurrent pregnancy loss

Journal of Genetic Medicine ◽

10.5734/jgm.2019.16.1.23 ◽

2019 ◽

Vol 16 (1) ◽

pp. 23-26

Author(s):

Sung Hee Han ◽

Jung Jae Seo ◽

Eun Seol Kim ◽

Jae Song Ryu ◽

Seong Hyeon Hong ◽

...

Keyword(s):

Pregnant Woman ◽

Pregnancy Loss ◽

Recurrent Pregnancy Loss ◽

Factor V Leiden ◽

Factor V ◽

Factor V Leiden Mutation ◽

History Of

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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

Thrombosis Research ◽

10.1016/s0049-3848(13)70142-7 ◽

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

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

Science Journal of University of Zakho ◽

10.25271/sjuoz.2018.6.3.509 ◽

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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