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Open AccessJournal ArticleDOI

Thrombophilia in pregnancy

Isobel D. Walker
- 01 Aug 2000 - 
- Vol. 53, Iss: 8, pp 573-580
TLDR
It is suggested that selected women (those with a personal or confirmed family history of venous thromboembolism or with a history of recurrent fetal loss) are screened for these defects to allow pregnancy management planning.
Abstract
Thrombophilia can be defined as a predisposition to thrombosis. Abnormalities in haemostasis that are associated with clinical thrombophilia include heritable defects, such as mutations in the genes encoding the natural anticoagulants antithrombin, protein C, and protein S, or clotting factors prothrombin and factor V, and acquired defects, such as antiphospholipids. Women with thrombophilic defects have been shown to be at increased risk, not only of pregnancy associated thromboembolism, but also of other vascular complications of pregnancy, including pre-eclampsia and fetal loss. Routine thrombophilia screening of all women attending antenatal clinics is not recommended. Because some thrombophilic defects—for example, type 1 antithrombin deficiency and antiphospholipids—are associated with a high risk of recurrent thrombosis or other pregnancy complications, it is suggested that selected women (those with a personal or confirmed family history of venous thromboembolism or with a history of recurrent fetal loss) are screened for these defects to allow pregnancy management planning. Key Words: thrombophilia • pregnancy

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Citations
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Thrombophilia in pregnancy: a systematic review

TL;DR: It is confirmed that women with thrombophilia are at risk of developing venous thromboembolism and complications in pregnancy, however, despite the increase in relative risk, the absolute risk of VTE and adverse outcomes remains low.
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Screening for thrombophilia in high-risk situations: systematic review and cost-effectiveness analysis. The Thrombosis: Risk and Economic Assessment of Thrombophilia Screening (TREATS) study

TL;DR: A systematic review of the literature on VTE and thrombophilia in women using oral oestrogen preparations and patients undergoing major orthopaedic surgery and the effectiveness of prophylaxis found homozygous carriers of this mutation are 34 times more likely to develop VTE in pregnancy than non-carriers.
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TL;DR: In this article, the authors studied 110 women who had severe preeclampsia, abruptio placentae, fetal growth retardation, and stillbirth associated with intervillous or spiral-artery thrombosis and inadequate placental perfusion.
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Portal vein thrombosis: a concise review.

TL;DR: The literature on PVT is summarized and the current knowledge about the precipitating factors of PVT are presented and the advances in the radiological diagnosis that have improved diagnostic accuracy and are noninvasive are discussed.
References
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Journal ArticleDOI

A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase

TL;DR: This work has identified a common mutation in MTHFR which alters a highly-conserved amino acid; the substitution occurs at a frequency of approximately 38% of unselected chromosomes and may represent an important genetic risk factor in vascular disease.
Journal ArticleDOI

Mutation in blood coagulation factor V associated with resistance to activated protein C

TL;DR: It is demonstrated that the phenotype of APC resistance is associated with hetero-zygosity or homozygosity for a single point mutation in the factor V gene which predicts the synthesis of a factor V molecule that is not properly inactivated by APC.
Journal ArticleDOI

A common genetic variation in the 3'-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis.

TL;DR: An association was found between the presence of the 20210 A allele and elevated prothrombin levels and Elevated pro thirdrombin itself also was found to be a risk factor for venous thrombosis.
Journal ArticleDOI

Familial thrombophilia due to a previously unrecognized mechanism characterized by poor anticoagulant response to activated protein C: prediction of a cofactor to activated protein C.

TL;DR: A previously unrecognized mechanism for familial thromboembolic disease is described that is characterized by poor anticoagulant response to activated protein C (APC), and as two additional, unrelated cases with thrombosis and inherited poor antICOagulants response to APC are identified, this may constitute an important cause for familialThrombophilia.
Journal ArticleDOI

The Management of Thrombosis in the Antiphospholipid-Antibody Syndrome

TL;DR: The risk of recurrent thrombosis in patients with the antiphospholipid-antibody syndrome is high and long-term anticoagulation therapy in which the international normalized ratio is maintained at or above 3 is advisable in these patients.
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