Inheritance and perinatal consequences of inherited thrombophilia in Greece

Department of Internal Medicine, Division of Hematology, University of Patras Medical School, Patras, Greece.
International Journal of Gynecology & Obstetrics (Impact Factor: 1.54). 02/2008; 100(2):124-9. DOI: 10.1016/j.ijgo.2007.08.006
Source: PubMed


To investigate the impact of inherited thrombophilic factors on the gestational outcome of unselected pregnant women.
A total of 392 women with spontaneous pregnancy were investigated for Factor V Leiden, prothrombin G20210A, and MTHFR C677T mutations. Adverse pregnancy outcomes were recorded.
Thrombophilic genotypes were significantly higher in women with placental abruption. Heterozygocity for Factor V Leiden increased the risk for placental abruption 9.1 times. The MTHFR T677T genotype increased the risk for placental abruption 4.8 times despite folate supplements, and normal serum folate and B(12) levels. Women with inherited thrombophilia and previous obstetric complications were at significant risk for complications in a subsequent pregnancy (P<0.05).
Women with placental abruption should be screened for thrombophilic factors and plasma homocysteine should be measured. Subgroups of women with inherited thrombophilia and obstetric complications might benefit from prophylactic anticoagulation in subsequent pregnancies.

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    • "Successful pregnancy outcome is dependent on the development and maintenance of adequate placental circulation. Abnormalities of placental vasculature may result in a number of gestational pathologies, such as intrauterine growth restriction (IUGR) (1, 2). IUGR is a frequent cause of stillbirth, perinatal morbidity, and long term sequels, but its etiology is unknown in most cases (3, 4). "
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    ABSTRACT: Background: Intrauterine growth retardation (IUGR) contributes significantly to fetal morbidity and mortality, but its etiology is unknown in most cases. Objective: The aim of this study was to examine the association between inherited thrombophilia and IUGR. Materials and Methods: A case-control study was performed in a tertiary referral center (Afzalipour Hospital) over 2-years period (2010-2011). Cases (n=25) were women who had pregnancies complicated by IUDR and control subjects (n=25) were women who had normal growth fetuses. All women were tested for inherited thrombophilia at least 4 weeks after delivery. Main outcome measure was prevalence of maternal thrombophlia. Genotyping for factor V Leiden, prothrombin gene (nucleotide G20210A), and MTHFR (C677T) mutation was performed by PCR technique. Protein C, S and antithrombin III activity were determined with a clotting assay (STA-Staclot, France). Results: The prevalence of hereditary thrombophilia was 68% (n=17) in IUGR group, and 32% (n=8) in control group (OR: 1.5, p=0.011, 95% CI: 1.3-14.8). The frequency of MTHFR (C677T) gene mutation (p=0.037; OR: 3.69) and protein S deficiency (p=0.034; OR: 5.41) was significantly increased in the group with IUGR compared with the control group. There was no significant difference between the two groups in prothrombin G20210A mutation (p=0.490) and protein C deficiency (p=0.609). A significant difference in the frequency of multiple thrombophilias was detected between the two groups (p=0.009). Conclusion: This study revealed that protein S deficiency and MTHFR gene mutation are more prevalent in pregnancies with IUGR.
    Iranian Journal of Reproductive Medicine 04/2013; 11(4):275-8. · 0.19 Impact Factor
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    • "No significant correlation was seen between any of these thrombophilias and adverse pregnancy outcomes in the study from Israel (Salomon et al. 2004). The second study, in a relatively small Greek cohort of 392 women, reported significant associations between factor V Leiden and MTHFR 677 and placental abruption (Karakantza et al. 2008). Said et al also reported significant associations between factor V Leiden and stillbirth (OR 8.85, 1.60 – 48.92), prothrombin gene mutation and placental abruption (OR 12.15, 2.45 -60.39) and a composite outcome comprising severe pre-eclampsia, small for gestational age (below the 5 th centile), placental abruption and stillbirth (OR 3.58, 1.20 – 10.61) in a cohort of 1707 asymptomatic nulliparous women (Said et al. 2010a). "
    Thrombophilia, 11/2011; , ISBN: 978-953-307-872-4
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    ABSTRACT: The purpose of this study was to evaluate the thrombophilic genes in pregnant women with and without preeclampsia independently or in combination. In a prospective case-control study, we investigated four polymorphisms in thrombophilic genes in 75 women with mild or severe preeclampsia and 145 women with normal pregnancy. The genotype frequencies were assessed and the odds ratio (OR) calculated. When we analyzed the polymorphisms independently and the development of preeclampsia, no association was observed [methylenetetrahydrofolate reductase (MTHFR) 677TT genotype, OR 2.07, 95% confidence interval (CI) 0.99-4.30; prothrombin mutation (F II) (GA or AA genotypes) OR 8.11, 95% CI 0.89-73.92; factor V Leiden (FV Leiden) OR 3.94, 95% CI 0.35-44.23; plasminogen activator inhibitor (PAI-1) 4G/4G genotype, OR 1.63, 95% CI 0.87-3.05] not even with severe preeclampsia subgroup analysis. However, when we investigated a possible interaction among these polymorphisms on the development of the preeclampsia, the OR for having one risk genotype, one or two genotype risk factors and two genotype risk factors compared to those without genotype risk factors were 1.97 (95% CI 1.08-3.59), 2.21 (95% CI 1.25-3.92) and 4.27 (95% CI 1.3-13.9), respectively. In conclusion, in the population analyzed, the presence of the genotype risk factors alone does not seem to be associated with the development of preeclampsia even in the severe presentation form. However, an interaction among the MTHFR, F II, FV and PAI-1 gene polymorphisms on the development of the preeclampsia was indicated.
    Blood Cells Molecules and Diseases 09/2006; 37(2):107-10. DOI:10.1016/j.bcmd.2006.07.005 · 2.65 Impact Factor
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