Recurrent Pregnancy Loss and Thrombophilia (original) (raw)
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Recurrent pregnancy loss thrombophilia
Clinical laboratory
In the last decades we found many data concerning the association between a hypercoagulable state and its causes and adverse pregnancy outcome, in particular recurrent pregnancy loss (RPL). Although first studies were focused only on the association between thrombophilia and RPL, subsequent studies underlined also a potential role of antithrombotic treatment to prevent vascular complication such as venous thromboembolism (VTE) during pregnancy. Now, emerging data seem to be available also on the role of active thromboprophylaxis with heparin and pregnancy outcome. This review will be focused on the recent knowledge between thrombophilia, hypercoagulable state, RPL, VTE and future perspectives.
THE ROLE OF THROMBOPHILIA IN RECURRENT PREGNANCY LOSS
World Journal of Pharmaceutical Research, 2015
Recurrent Pregnancy loss (RPL) represents a major health problem, with approximately 15-20 % of all clinically recognized pregnancies resulting in pregnancy unhappy end. Recurrent pregnancy loss (RPL) defined as 3 consecutive pregnancy losses before 20 weeks it affects approximately 1% to 2% of women. Recurrent pregnancy loss exacts a devastating emotional toll on patients' lives. Each miscarriage brings with it a profound sense of loss and frustration. The association between thrombophilia and recurrent pregnancy loss (RPL) has become an undisputed fact. Development of thrombosis in pregnancy is multifactorial due to the physiologic changes of pregnancy which induce a relative hypercoagulable state as well as physical changes leading to increased stasis and also the effects of both the inherited and the acquired thrombophilias. In this review, we discuss the role of each of these factors on the development of thrombophilia as well as the evidence for the impact of pregnancy associated thrombosis on pregnancy outcome.
Acquired thrombophilias and pregnancy
Best Practice & Research Clinical Obstetrics & Gynaecology, 2003
Acquired thrombophilias are hypercoagulable states secondary to various aetiologies. In particular, during pregnancy the risks are exaggerated due to the underlying physiological changes. The commonest cause of acquired thrombophilia in pregnancy is antiphospholipid syndrome. Antiphospholipid syndrome (APS) is a complex multisystem disorder that has been associated with varied medical and obstetric complications. The pathogenesis of APS has been further elucidated in recent studies. The two most clinically significant antiphospholipid antibodies that are associated with recurrent pregnancy loss and thromboembolism are anticardiolipin antibodies (aCL) and lupus anticoagulant (LA). The laboratory diagnosis is based on the presence of moderate to high positive aCL and/or LA antibodies. It is crucial that APS is not inappropriately diagnosed as this has implications for counselling and management with thromboprophylaxis during pregnancy. Over the last decade there have been significant changes in the laboratory and clinical criteria for the diagnosis of APS. National and international collaborations have made efforts to standardize the laboratory methods. There have been very few randomized placebo-controlled trials of drug therapy and so not all drug treatment strategies have a strong evidence base. With current management strategies, using low-molecular-weight heparin and aspirin, a greater than 70% live birth rate may be achieved in affected pregnancies. A multidisciplinary approach in the management of these women is vital.
The impact of hereditary thrombophilias in recurrent pregnancy loss
Genetika
Introduction: Recurrent pregnancy loss (RPL) is defined as two or more consecutive pregnancy loss which occurs before the 20th weeks of pregnancies for the last menstrual period. Hereditary cause of thrombophilic gene mutations and polymorphism may play an essential role in RPLs. Material and Method: 291 women with a history of two or more consecutive abortions as a study group and 61 women without the history of miscarriages as a control group were included in a study. In this study we analysed the effects of Factor II Prothrombin mutation ,FV Leiden mutation, MTHFR C677T, MTHFT A1298C, PAI-1, ?-fibrinogen, Factor XIIIA (V34L) and Glycoprotein IIIa (L33P) polymorphisms on RPL by using pyrosequencing. Chi-square and multiple regression analysis were used for statistical analysis. Results: FII prothrombin mutation, FV Leiden mutation, MTHFR C677T, MTHFR A1298C, PAI1 and Beta fibrinogen were found statistically significant in the chi-square test. Heterozygous FV G1691A (OR:8.092, CI: ...
International Journal of Cardiovascular Practice
Pregnancy represents a physiologic hypercoagulable state. The presence of inherited thrombophilias (factor V Leiden, prothrombin G20210A mutation, deficiencies of protein C, protein S and antithrombin) or acquired thrombophilias (antiphospholipid syndrome) increases the risk for venous thromboembolism, which represents one of the most common causes of direct maternal death. The clinical diagnosis of thrombosis can be difficult because of the overlap of symptoms with pregnancy-related manifestations. Antiphospholipid syndrome is correlated with early and late pregnancy complications whereas the association between the inherited thrombophilias and adverse pregnancy outcomes is still controversial. The psychological impact of thrombophilia in pregnancy should be also taken into consideration to prevent the negative effects of anxiety and stress on mother's health and on birth outcomes. Thrombophilia testing in pregnancy is recommended only in cases in which the result is likely to influence the therapeutic decision. Low-molecular-weight heparins are the preferred anticoagulant for prophylaxis and therapy of thromboembolic events in pregnancy, presenting a low incidence of side effects. Future research is required to establish the optimal therapeutic strategy in pregnant women with thrombophilia, based upon a better stratification, in order to prevent thromboembolism and to improve pregnancy outcomes.
Recurrent Pregnancy Loss and Its Relation to Combined Parental Thrombophilic Gene Mutations
Genetic Testing and Molecular Biomarkers, 2012
Background and Aim: Recurrent pregnancy loss (RPL) is a heterogeneous disorder that has been associated with antiphospholipid syndrome and other prothrombotic parameters. We aimed to investigate the prevalence of 12 thrombophilic gene mutations in RPL couples in the current results. Method: In a total of 543 Turkish women with RPL and 327 of their male partners (870 individuals with RPL), and a control group of 106 fertile couples (control) were analyzed for factor V leiden (FVL), factor V H1299R, factor II prothrombin G20210A, FXIII V34L, b-fibrinogen -455G > A, plasminogen activator inhibitor-1 (PAI-1), GPIIIa L33P (HPA-1 a/b L33P), methylenetetrahydrofolate reductase (MTHFR) C677T, MTHFR A1298C, ACE I/D, Apo B R3500Q, and Apo E genes. Results: The overall, heterozygous and/or homozygous point mutations in FVL -FVR2, ApoE2, PAI-1, MTHFR C677T -A1298C, and ACE genes were associated with RPL. There was no meaningful association between RPL and other studied genes. Conclusion: The homozygosity of 4G in PAI-1 and MTHFR C677T genes in women with RPL, and heterozygosity of FVL, FVR2, ACE, and ApoE2 genes in both parents play crucial role in RPL and should be considered as a risk factor in RPL. Current results showed that RPL is related to combined parental (not only maternal) thrombophilic gene mutations.
Thrombosis, thrombophilia, and thromboprophylaxis in pregnancy
Clinical advances in hematology & oncology : H&O, 2005
Normal pregnancy is accompanied by changes in coagulation that have likely evolved to protect women from the bleeding challenges of miscarriage and childbirth. Consequently, pregnant women are at an increased risk of thrombosis. The most important risk factors are thrombophilia and a history of thrombosis. Most thromboses in pregnancy occur in the left lower extremity, but pelvic vein thromboses are not uncommon. Thrombophilia increases not only the risk of maternal thrombosis but also the risk of poor pregnancy outcome. All pregnant women should be asked about a personal or family history of thrombosis and the details of their obstetrical history. Some women should undergo laboratory testing, particularly those with a personal history of thrombosis or a history of poor pregnancy outcome. The purpose of testing is to help determine which women should receive anticoagulation therapy, which is used not only to treat venous thromboembolism, but also to prevent thromboembolism and reduc...