Factor V Leiden and prothrombin G20210A mutations, but not methylenetetrahydrofolate reductase C677T, are associated with recurrent miscarriages

Foka, Zoi; Lambropoulos, Alexandros; Saravelos, H.; Karas, Giorgos B.; Karavida, A.; Αγοραστός, Θεόδωρος; Zournatzi, V.; Makris, P.E.; Bontis, J.; Kotsis, A.

doi:10.1093/humrep/15.2.458

Cited by 183 publications

(147 citation statements)

References 28 publications

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“…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%

“…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: 99%

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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: In a Controlledmentioning

confidence: 99%

Section: Introductionmentioning

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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show abstract

“…Foka et al, (13) in their study with 80 patients and 100 control subjects, proposed that factor V Leiden and prothrombin G20210A mutations may be risk factors for HA, but that MTHFR C677T homozygosis is not. The association between HA and antiphospholipid antibodies remains a focus of research on AFAS (14).…”

Section: Discussionmentioning

confidence: 99%

The role of paroxysmal nocturnal hemoglobinuria in idiopathic habitual abortion

Dirik¹,

Ekinci²,

Kara³

et al. 2017

Eastern J Med

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“…13.6% were carriers of the prothrombin mutation compared to 3% in controls (p = 0.001). Foka et al [112] tested 80 women with recurrent (≥ 2) losses and 100 controls. Sixty one out of the 70 had first trimester losses.…”

Section: Prevalence Of Inherited Thrombophilias In First and Second Tmentioning

confidence: 99%

“…Homozygosity for the MTHFR mutation represents a small increase in women's risk for recurrent pregnancy loss. Some studies do not find an association between the prothrombin mutation and RM [123][124][125], while other studies do [111,112]. In addition, Pihusch et al [126] studied 102 patients with two or more consecutive abortions and 128 women without miscarriage.…”

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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Factor V Leiden and prothrombin G20210A mutations, but not methylenetetrahydrofolate reductase C677T, are associated with recurrent miscarriages

Cited by 183 publications

References 28 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?

The role of paroxysmal nocturnal hemoglobinuria in idiopathic habitual abortion

Thrombophilia and pregnancy

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