Prevalence of factor V G1691A (factor V‐Leiden) and prothrombin G20210A gene mutations in a recurrent miscarriage population

Finan, Ramzi R.; Tamim, Hani; Ameen, Ghada; Sharida, Huda E.; Rashid, Majid; Almawi, Wassim Y.

doi:10.1002/ajh.10223

Cited by 105 publications

(93 citation statements)

References 31 publications

(36 reference statements)

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“…Recent investigations have focused on a higher prevalence of certain inherited thrombophilias, such as factor V Leiden (FVL) and prothrombin (PT) G20210A mutations, in women with unexplained recurrent pregnancy losses [16][17][18][19][20][21]. Nevertheless, these reports have produced conflicting results [22][23][24][25] and this heterogeneity is reflected in existing meta-analyses [17,20,26,27].…”

Section: Introductionmentioning

confidence: 81%

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Factor V Leiden and prothrombin G20210A in Portuguese women with recurrent miscarriage: is it worthwhile to investigate?

Serrano

Lima

Lopes

et al. 2011

Arch Gynecol Obstet

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Objective To compare the prevalence of factor V Leiden (FVL) and prothrombin (PT) G20210A mutations in Portuguese women with unexplained recurrent miscarriage (RM) and a control group of parous women. Materials and methods FVL and PT G20210A analysis were carried out in 100 women with three or more consecutive miscarriages and 100 controls with no history of pregnancy losses. Secondary analysis was made regarding gestational age at miscarriage (embryonic and fetal losses). Results Overall, the prevalence of FVL and PT G20210A was similar in women with RM (5 and 3%) compared with controls (5 and 1%) OR 1.36 (CI 95% 0.45-4.08). In RM embryonic subgroup, PT G20210A was observed in 1.3% of women and FVL prevalence (2.6%) was inclusively lesser than that of controls. Both polymorphisms were more prevalent in women with fetal losses than in controls, although statistical significance was not reached due to the small size of the [10 weeks' subgroup. Conclusion These data indicate that neither FVL nor PT G20210A is associated with RM prior to 10 weeks of gestation. Therefore, its screening is not indicated as an initial approach in Portuguese women with embryonic RM and negative personal thromboembolic history.

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Section: Introductionmentioning

confidence: 81%

“…Most of the scientific evidence that associates PT G20210A mutation to pregnancy failure originates in casecontrol studies [24,25,46]. These studies, as those carried out on the FLV, are subject to bias and may overstate its impact on obstetric outcome [38].…”

Section: In a Controlledmentioning

confidence: 99%

Factor V Leiden and prothrombin G20210A in Portuguese women with recurrent miscarriage: is it worthwhile to investigate?

Serrano

Lima

Lopes

et al. 2011

Arch Gynecol Obstet

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“…While these changes may be beneficial in minimizing intrapartum blood loss, they reportedly confer an added risk of thromboembolism during pregnancy and post-partum [1]. Hypercoagulation represents a major risk factor of severe pregnancy complications [3], which include pre-eclampsia and idiopathic recurrent abortions [4].…”

Section: Introductionmentioning

confidence: 99%

“…An association between FV Leiden and PRT G20210A SNPs and recurrent idiopathic miscarriages was proposed [4,9]. Women with a history of VTE during pregnancy or the puerperium had a higher prevalence of FV Leiden [16], and increased prevalence of FV Leiden was reported in women who had severe complications of pregnancy, including placental abruption [17,18], fetal death, severe pre-eclampsia [18,19], or intrauterine growth restriction [20].…”

Section: Introductionmentioning

confidence: 99%

Association between adverse pregnancy outcomes and maternal factor V G1691A (Leiden) and prothrombin G20210A genotypes in women with a history of recurrent idiopathic miscarriages

et al. 2005

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Thrombophilia was implicated in the development of pregnancy complications, including recurrent idiopathic pregnancy loss, and is aggravated in women who are carriers of factor V G1691A (FV Leiden) and prothrombin (PRT) G20210A single-nucleotide polymorphisms (SNPs). Previous studies examined the role of FV-Leiden and PRT G20210A in recurrent pregnancy loss with conflicting results. Here we examined the prevalence of FV Leiden and PRT G20210A SNPs, in 200 women with 3 or more consecutive early (n = 87), late (n = 41), or early-late (n = 72) recurrent pregnancy losses, and 200 age-matched fertile parous control women. APC resistance (APCR) was detected functionally (measuring the activated clotting time triggered by activated factor X in presence of a fixed amount of purified APC), and FV-Leiden and PRT G20210A genotypes were assessed by PCR. The frequency of the mutant FV (0.1400 vs. 0.0276; P < 0.001) but not PRT 20210 (0.0100 vs. 0.0225; P = 0.159) allele was higher in patients than controls, respectively. APC resistance with factor V Leiden was seen in 27% of patients compared to 11.5% of controls, while APC resistance without factor V Leiden was seen in 12.5% of patients compared to 9.5% of controls. Regression analysis demonstrated that the significant predictors for early abortion was FV Leiden; those for late abortion were oral contraceptive, APCR, and FV Leiden; and predictors for early-late abortions were oral contraceptives, obesity, FV Leiden, and smoking. APC resistance and FV Leiden, as well as combination of both, are common thrombotic defects seen in women with idiopathic recurrent pregnancy loss, thus testing for these is recommended in women who have experienced recurrent miscarriages. Am.

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“…The rate of preclinical pregnancy losses in Leiden mutation carriers was significantly higher compared to no APCR patients. Finan et al [111], tested 110 women with first trimester unexplained losses (≥ 2) and 67 controls. Forty one % were carriers of the FV Leiden mutation compared to 16.4% in controls, (p = 0.002).…”

Section: Prevalence Of Inherited Thrombophilias In First and Second Tmentioning

confidence: 99%

Thrombophilia and pregnancy

Brenner¹

2005

Eur J Clin Investigation

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Pregnancy is hypercoagulable state. The field of thrombophilia; the tendency to thrombosis, has been developed rapidly and has been linked to many aspects of pregnancy. It is recently that severe pregnancy complications such as severe preeclampsia intrauterine growth retardation abruptio placentae and stillbirth has been shown to be associated with thrombophilia. Recurrent miscarriage and has also been associated with thrombophilia. Finally, thromboembolism in pregnancy as in the non-pregnant state is linked to thrombophilia. In this review all aspects of thrombophilia in pregnancy are discussed, and also all prophylactic and therapeutic implications.Thrombophilias are inherited or acquired conditions which predispose an individual to thromboembolism. Deficiencies of protein S C and antithrombin are rare and each of them is found in about 3% of patients with thrombosis. Recently, three important inherited thrombophilias were discovered which are responsible of the majority of thromboembolic events in patients with otherwise no apparent risk for thrombosis. Resistance to activated protein C caused by an adenine 506 guanine (A506G) mutation in factor V (factor V Leiden) has been linked with an increased risk for venous thromboembolism [1][2][3]. Heterozygosity for the factor V (FV) Leiden mutation is found in about 5% of the population and the mutation is responsible of 20-30% of venous thromboembolism events. A recently described guanine 20210 adenine mutation in prothrombin is associated with higher plasma prothrombin concentrations and increased risk for venous thromboembolism [4] and cerebral-vein thrombosis [5]. Homozygosity for the cytosine 677 thymine (C677T) mutation in methylenetetrahydrofolate reductase (MTHFR) results in decreased synthesis of 5-methyltetrahydrofolate, the primary methyl donor in the conversion of homocysteine to methionine and the resulting increase in plasma homocysteine concentrations is a risk factor for thrombosis [6,7]. The mutation is responsible for reduced MTHFR activity and is the most frequent cause of mild hyperhomocysteinemia and can be found in 5-15% of the population.Homocysteine is an independent risk factor for atherosclerosis, stroke, peripheral vascular disease and cardiovascular diseases [8,9]. Homocysteine concentrations are affected by nutrition. A deficiency in folate, B-6, and/or B-I2 causes elevation of homocysteine. Homocysteine concentrations are also affected by genetics such as cystathionine beta-synthase deficiency (10) and C677T MTHFR gene mutation [7]. Hyperhomocysteinemia promotes vascular damage by several mechanisms. Many of the endothelial vascular changes associated with hyperhomocysteinemia can be found in preeclampsia [11][12][13][14][15]. thrombophilia is substantially increased. The risk of VTE in pregnant women may be further amplified by the type of underlying genetic predisposition, like, homozygosity for a mutation, the presence of multiple mutations (multigenic defects) or thrombophilic anomalies [16][17][18][19].Thrombophilia and ad...

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Prevalence of factor V G1691A (factor V‐Leiden) and prothrombin G20210A gene mutations in a recurrent miscarriage population

Cited by 105 publications

References 31 publications

Factor V Leiden and prothrombin G20210A in Portuguese women with recurrent miscarriage: is it worthwhile to investigate?

Factor V Leiden and prothrombin G20210A in Portuguese women with recurrent miscarriage: is it worthwhile to investigate?

Association between adverse pregnancy outcomes and maternal factor V G1691A (Leiden) and prothrombin G20210A genotypes in women with a history of recurrent idiopathic miscarriages

Thrombophilia and pregnancy

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