Inherited thrombophilia in infertile women: implication in unexplained infertility

Casadei, Luisa; Puca, Francesco; Privitera, Laura; Zamaro, Valentina; Emidi, Emanuela

doi:10.1016/j.fertnstert.2009.10.014

Cited by 26 publications

(22 citation statements)

References 18 publications

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“…Inherited thrombophilia and infertility Coulam et al (6) reported that a prothrombotic tendency is associated with unexplained infertility, but this finding was not in agreement with data from Casadei et al (7). To date, there has been no conclusive evidence in the literature to suggest an association of inherited thrombophilia and infertility other than recurrent implantation failure (8).…”

Section: Introductionmentioning

confidence: 93%

Inherited thrombophilia and reproductive disorders

Liatsikos

Tsikouras

Manav

et al. 2016

J Turkish German Gynecol Assoc

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Review 45 IntroductionThrombophilia is a disorder caused by inherited and acquired defects and is defined as a predisposition to thrombosis (1).The most common cause of acquired thrombophilia is the antiphospholipid syndrome (APS). Inherited thrombophilia constitutes a group of abnormalities of blood coagulation, including the factor V Leiden mutation (FVL) (homozygous or heterozygous), the prothrombin (FII) G20210A mutation (Pm) (homozygous or heterozygous), and deficiencies of the endogenous anticoagulants, antithrombin (AT), protein C, and protein S. Among these conditions, FVL and Pm are relatively common, while the others are rare. FVL is a point mutation (G1691A), resulting in an altered factor resistant to inactivation by protein C. The Pm leads to a 20%-50% increase in plasma prothrombin levels (2, 3). The prevalence of inherited thrombophilia in the general western population is estimated to be approximately 15% (4). However, it seems that there is a significant variation in the prevalence of these conditions among different geographical and tribal populations. FVL varies from 0.6% to 7.0%, with the lowest frequency observed in Africa (0%-0.6%) and the highest in Southern Europe (7%). The mean prevalence in Northern Europe is 4%. The prevalence of Pm varies from 0.2% to 3%, being lowest in Africa (0%-0.3%) and highest in Southern Europe (3%). The mean value in Northern Europe is 2%. Protein C, protein S, and AT deficiencies are extremely rare (0.2%-0.4%, 0.03%-0.1%, and 0.02%-0.2%, respectively) (5).The role of inherited thrombophilia in pregnancy loss and vascular gestational disorders has been investigated in several studies, and the results seem to be contradictory. The aim of this review was to elucidate the association of inherited thrombophilia and reproductive disorders. The value of screening women for inherited thrombophilia and the treatment options during pregnancy are also discussed.The association between inherited thrombophilia and reproductive disorders 1. Inherited thrombophilia and infertility Coulam et al. (6) reported that a prothrombotic tendency is associated with unexplained infertility, but this finding was not in agreement with data from Casadei et al. (7). To date, there has been no conclusive evidence in the literature to suggest an association of inherited thrombophilia and infertility other than recurrent implantation failure (8). Di Nisio et al. (9) conducted a systematic review and meta-analysis of all the available studies on the role of inherited thrombophilia in implantation failure. A significant association was found only for FVL [Odds ration (OR) 3.08; 95% confidence interval (CI) 1.77-5.36]. Inherited thrombophilia and recurrent pregnancy lossIt is estimated that approximately 25% of conceptions and 15% of all clinically recognized pregnancies end in a miscarriage (10, 11). Moreover, three or more successive losses affect 1%-2% of women of reproductive age, and two or more successive losses affect approximately 5% (12). Although several Apart from its established ro...

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Section: Introductionmentioning

confidence: 93%

Inherited thrombophilia and reproductive disorders

Liatsikos

Tsikouras

Manav

et al. 2016

J Turkish German Gynecol Assoc

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“…Appropriate placentation and implantation require a coagulation/fibrinolysis balance as well as appropriate vascular remodeling early in pregnancy. Thrombophilia may influence the oocyte quality, can interfere with the appropriate follicular vascularization [6],and has been linked to infertility with repeated IVF failures [7,8]. The presence of thrombosis or placental fibrin deposits can lead to placental insufficiency, which can be the initial cause of infertility and/or lead to the failure of IVF [9,10].…”

Section: Introductionmentioning

confidence: 99%

Reduced Protein C Global Assay Levels in Infertile Women with in vitro Fertilization Failure: A Pilot Study

Masry¹,

Azzam²,

Youssef

et al. 2018

Acta Haematol

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Protein C global is a global dotting assay that evaluates abnormalities in the protein C anticoagulant pathway. A few studies have examined this assay in relation to assisted reproductive technology (ART), but its role in infertile women with in vitro fertilization (IVF) failure remains unclear. In this study, we assessed protein C in infertile women with a history of IVF failure who were undergoing ART. We examined 45 healthy fertile women who conceived naturally, and 45 infertile women with 2 or more implantation failures undergoing ART. Both protein C and activated protein C resistance (APC-R) were evaluated. The results showed that mean protein C expressed as a normalized ratio (PCAT-NR) was significantly lower in the study group compared to the control group (0.76 ± 0.15 vs. 0.91 ± 0.14, respectively; p = 0.0001). Follow-up on ART outcomes showed that women who failed ART had significantly lower PCAT-NR compared to successful cases. PCAT-NR did not correlate with APC-R levels in the study (r = 0.125, p < 0.5) or failed ART subgroups. Using logistic regression analysis, patients with lower PCAT-NR levels showed an elevated risk of implantation failure (p = 0.04, OR 0.50, 95% CI 0.26-0.84). In conclusion, protein C global assay may play a role in the etiology of IVF failure, which might be independent of APC-R. Larger studies are encouraged to validate these findings and explore the underlying pathophysiological mechanisms.

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“…The following hereditary factors were investigated: factor V Leiden (G1691A), prothrombin gene mutation (G20210A) and MTHFR enzyme mutation (C677T). This study found no difference in the frequencies of thrombophilic factors between the two populations evaluated (Casadei, 2010). Also in 2010, Sharif et al conducted a prospective cohort study and analyzed 273 cases of implantation failure (two or more transfer of good quality embryos without the occurrence of pregnancy).…”

Section: Thrombophilia and Infertilitymentioning

confidence: 72%