Prevalence of antiphospholipid antibodies, factor V G1691A (Leiden) and prothrombin G20210A mutations in early and late recurrent pregnancy loss

Mtiraoui, Nabil; Borgi, Lobna; Hizem, Sondes; Nsiri, Brahim; Finan, Ramzi R.; Gris, Jean‐Christophe; Almawi, Wassim Y.; Mahjoub, Touhami

doi:10.1016/j.ejogrb.2004.07.003

Cited by 34 publications

(20 citation statements)

References 31 publications

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“…Fifteen studies were excluded based on reported consanguinity in cases, 51,65 overlap of data with another included study 83,104,109 or inability to compute ORs (i.e., no observed carriers in cases and/or controls). 53,55,56,59,60,67,74,84,94,107 All but three of the 45 remaining studies satisfied HardyWeinberg criteria (χ2; test; P ≥ 0.05); these three were excluded.…”

Section: Case-control Studiesmentioning

confidence: 99%

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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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Section: Case-control Studiesmentioning

confidence: 99%

“…50 83,104 or inability to compute ORs. 55,59,65,102,114 One study did not ini tially satisfy HardyWeinberg criteria (P = <0.001).…”

mentioning

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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show abstract

“…Reports in the literature relevant to the study of polymorphisms in abortion material are scarce, as well as comparisons between groups with altered and the normal cytogenetics. In general, the studies compare the frequency of these polymorphisms in women with miscarriage and women with successful pregnancy [3,26,27]. Many cytogenetic abnormalities cause such cellular alterations that it explains the pregnancy loss.…”

Section: Discussionmentioning

confidence: 99%

“…It is estimated that 15-25% of pregnancies culminate in abortion, and up to 5% are recurrent [2,3]. The habitual spontaneous abortion (HSA) or recurrent spontaneous abortion (RSA) can be defined as the loss of three or more consecutive miscarriages before the 20th week of pregnancy.…”

Section: Introductionmentioning

confidence: 99%

Mutations in the Gene for Factor V Leiden and G20210A Prothrombin Polymorphism in Women With Recurrent Spontaneous Abortion: A Retrospective Study in a Brazilian Population

Proite¹,

Malinverni²,

Oshima³

et al. 2016

J Clin Gynecol Obstet

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“…Prospective studies of low-risk pregnancies have found that their presence carried a 3-9 times higher risk of fetal loss [19]. A positive test for APA may be found in up to 45% of women with recurrent pregnancy loss [20]. An APS was present with either recurrent embryonic loss [21] or late abortion after 10 weeks of gestation ( fig.…”

Section: Epidemiologymentioning

confidence: 99%

Impact of the Antiphospholipid Syndrome on Complications during Pregnancy

Schleußner¹

2006

Transfus Med Hemother

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The antiphospholipid syndrome (APS) is an autoimmune disease characterized by the appearance of antiphospholipid antibodies (APA) and at least one clinical manifestation like venous and arterial thrombosis or recurrent miscarriages and fetal loss in the second and third trimester. This most common acquired thrombophilia can also cause placental insufficiency, preeclampsia, intrauterine growth retardation, and placental abruption. Several potential pathogenic pathways leading to a procoagulant state by activation of endothelial cells, monocytes or platelets and inhibition of the protein C activation pathway have been identified. These are supposed to be responsible for thrombosis and obstetric complications. Failed trophoblast differentiation and invasiveness, with subsequently hampered uteroplacental development, as well as thrombosis in the placental vessels are further pathogenic pathways for observed complications specific for pregnancy. Tests for anticardiolipin antibodies and lupus anticoagulant are most commonly used in clinical practice although antiphospholipid antibodies are a heterogeneous group. Current criteria for the classification of APS recommend the use of standardized ELISAs that measure ß2- glycoprotein I-dependent IgG and IgM anticardiolipin antibodies and/or lupus anticoagulant. Current recommendations regarding prophylactic and therapeutic strategies in pregnancy are based on a systematic Cochrane review. Although APS is an autoimmune disease, anticoagulant therapy is the favored strategy to prevent thromboembolic events, miscarriages, or other pregnancy complications. The recommended therapy is the combination of heparin and low-dose aspirin reducing pregnancy loss by 54%. Aspirin alone, prednisone, or intravenous immunoglobulin infusion had no significant beneficial effect on pregnancy outcome, but rather a higher rate of side effects. Oral anticoagulants are contraindicated during pregnancy because of substantial embryotoxic side effects. Currently lowmolecular- weight heparin replaces unfractionated heparin as drug of choice because of safe use for mother and fetus as well as fewer side effects as several studies have shown. Our experience has taught us that prophylaxis should be initiated as soon as pregnancy has been recognized in order to prevent the described pathologies in placental development.

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Prevalence of antiphospholipid antibodies, factor V G1691A (Leiden) and prothrombin G20210A mutations in early and late recurrent pregnancy loss

Cited by 34 publications

References 31 publications

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

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

Mutations in the Gene for Factor V Leiden and G20210A Prothrombin Polymorphism in Women With Recurrent Spontaneous Abortion: A Retrospective Study in a Brazilian Population

Impact of the Antiphospholipid Syndrome on Complications during Pregnancy

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