Factor V Leiden mutation: a treatable etiology for sporadic and recurrent pregnancy loss

Glueck, Charles J.; Gogenini, Srikant; Munjal, J.; Tracy, Trent; Pranikoff, Joel; Wang, Ping

doi:10.1016/j.fertnstert.2007.03.011

Cited by 27 publications

(15 citation statements)

References 58 publications

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“…A European prospective research, conducted in women with a previous miscarriage, has also found a similar outcome between subsequent pregnancies of FVL and PT G20210A carriers and noncarriers [22]. However, other studies revealed discordant results and clinicians continue to incorporate these tests in RM investigation protocol [17,21,26,33,34]. Some methodological aspects such as inclusion in studies of participants with other potential underlying causes of RM, the lack of stratification of cases by women's ethnicity and gestational age of losses, may have impaired the quality of the available data [26].…”

Section: Discussionmentioning

confidence: 97%

“…Data accumulated over the past two decades have established a clear association between antiphospholipid syndrome (APS), an acquired thrombophilic state, and RM [11][12][13][14][15]. 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: Discussionmentioning

confidence: 97%

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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“…These data confirmed an effect for both F5 and F2 (P < 0.001). More importantly, there was con cern that the casecontrol data did not provide direct evidence 99 Foka 63 Onderoglu 86 Grandone 66 Brenner 57 Krause 75 Fatini 61 Raziel 91 Agorastos 50 Glueck 64 Sottilotta 97 Hohlagschwandtner 69 Reznikoff-Etievant 92 Souza 98 Ridker 93 Hopmeier 70 Many 78 Murphy 85 Ivanov 72 Sotiriadis 96 Metz 79 Pauer 88 …”

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confidence: 99%

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

Bradley

Palomaki

Bienstock

et al. 2012

Genetics in Medicine

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Women with recurrent pregnancy loss are offered Factor V Lei den (F5) and/or prothrombin G20210A (F2) testing to identify candidates for anticoagulation to improve outcomes. A systematic literature review was performed to estimate test performance, effect sizes, and treatment effectiveness. Electronic searches were per formed through April 2011, with review of references from includ ed articles. Englishlanguage studies addressed analytic validity, clinical validity, and/or clinical utility and satisfied predefined in clusion criteria. Adequate evidence showed high analytic sensitivity and specificity for F5 and F2 testing. Evidence for clinical validity was adequate. The summary odds ratio for association of recurrent pregnancy loss with F5 in casecontrolled studies was 2.02 (95% confidence interval, 1.60-2.55), with moderate heterogeneity and suggestion of publication bias. Longitudinal studies in women with recurrent pregnancy loss or unselected cohorts showed F5 carriers were more likely to have a subsequent loss than noncarriers (odds ratios: 1.93 and 2.03, respectively). Results for F2 testing were simi lar. For clinical utility, evidence was adequate that anticoagulation treatments were ineffective (except in antiphospholipid antibody syndrome) and had treatmentassociated harms. The certainty of evidence is moderate (high, moderate, and low) that anticoagula tion of women with recurrent pregnancy loss and F5/F2 variants would currently lead to net harms. Pregnancy loss is a common medical problem among repro ductive age women. 1 However, relatively few women having one pregnancy loss experience multiple or "recurrent" preg nancy losses (RPLs). Approximately 5% of such women experi ence a second pregnancy loss and only 1-2% three or more. Genet Med 1Evaluation for RPL often includes ruling out parental chro mosome abnormalities, identifying maternal exposures, and testing for underlying maternal conditions. 1,2 Effective clinical interventions are available for some etiologies, such as correct ing uterine anomalies surgically and treating antiphospholipid syndrome with aspirin and heparin. [3][4][5] The evidence review summarized herein addressed the asso ciation of inherited thrombophilia with RPL, focusing on tests for two genetic variants that are frequently ordered: Factor V Leiden ("F5") and prothrombin G20210A ("F2"). F5 defines a singlenucleotide substitution in the F5 gene (i.e., Factor V Leiden; F5 c.1691G>A; and p.Arg506Gln), 3,6 whereas F2 defines a singlenucleotide substitution in an untranslated region of the F2 gene (i.e., prothrombin G20210A and F2 c.20210G>A). 4,6 Associations between these (and other) heritable thrombo philia variants and serious pregnancy complications (e.g., RPL, fetal growth restriction, placental abruption, and preeclampsia) began to appear in the literature in 1996.6 By 2005, laborato ries were offering clinical testing for F5/F2 as part of "infertil ity" or RPL evaluations. 7 In some states, these tests continue to be available directly to consumers through the intern...

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“…Heritable and acquired thrombophilia and hypofibrinolysis are well-documented risk factors for recurrent pregnancy loss (defined as three or more consecutive pregnancy losses before 20 weeks gestation), spontaneous abortion, and intrauterine growth retardation (1)(2)(3)(4)(5)(6)(7)(8)(9)(10). Three thrombophilic mutations, factor V Leiden (9)(10)(11)(12), 20210G>A prothrombin (10,13,14), and MTHFR 677 C>T homozygosity or MTHFR 677C>T-1298A>C compound heterozygosity (13,(15)(16)(17), have been associated with recurrent pregnancy loss.…”

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confidence: 99%

High factor XI, recurrent pregnancy loss, enoxaparin

Glueck

Pranikoff

Khan

et al. 2010

Fertility and Sterility

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Factor V Leiden mutation: a treatable etiology for sporadic and recurrent pregnancy loss

Cited by 27 publications

References 58 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?

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

High factor XI, recurrent pregnancy loss, enoxaparin

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