The Journal of Maternal-Fetal & Neonatal Medicine · 2015 · 12 citations · 17 references
MedicineGeneticsHematologyHemostasisHuman GeneticsMedical GeneticsCoagulation AbnormalitiesCoagulation DisordersCoagulation Factor DeficienciesThromboembolic DiseaseThrombosisThrombotic DisordersFactor Ii MutationFactor V Leiden ThrombophiliaMethylenetetrahydrofolate Reductase PolymorphismsPlasminogen ActivatorsPregnancy-associated Venous ThromboembolismPregnancy-related ComplicationsProthrombin Gene MutationThromboembolic Complications In Pregnancy
OBJECTIVES: To investigate the genetic and acquired thrombophilic risk factors in pregnancy-associated complications and venous thromboembolism (VTE) and evaluate the association between particular thrombophilic risk factors and thromboembolic complications. METHODS: In this study, pregnant women with pregnancy complications and VTE (N = 101) were the study group, and the control group were women with normal pregnancy (N = 102). All women underwent testing for factor V Leiden mutation (FVL), mutation of the coagulation factors II (FII20210), methylenetetrahydrofolate reductase (MTHFR), plasminogen activator inhibitor-1, antithrombin III (ATIII), protein C (PC) and protein S, lupus anticoagulant (LAC) antibodies, anticardiolipin antibodies and anti-beta-2-glycoprotein-1. RESULTS: In this study group, mutations of the FVL was 15.8% (16/101), FII20210 5.9% (6/101) and the MTHFR at locus 677 was TT in 19.8% (20/101). Deficiency of ATIII and PC were rare: 3.0% and 1.0%, respectively. LAC were significantly higher in the study group than in the control group: 32.7% versus 3.9%; p < 0.0005. Pregnant women with VTE have been more frequent for FVL (41.7%; p < 0.005), PC deficiency (25.0%; p < 0.005) and LAC (33.3%; p < 0.005). Combination of FVL and MTHFR mutation was related to the risk of recurrent fetal death and habitual abortion. CONCLUSION: The inherited and the acquired thrombophilic risk factors were found to be up to 10 times more common in the study group than in the control group.
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Increased fetal loss in women with heritable thrombophilia
F E Preston, FR Rosendaal, I.D. Walker et al. · The Lancet · 1996 · 677 citations
Medicine, Genetics, Obstetrics +12
Valerio De Stefano, Ida Martinelli, Pier Mannuccio Mannucci et al. · New England Journal of Medicine · 1999 · 486 citations · Full text