Association between adverse pregnancy outcomes and maternal factor V G1691A (Leiden) and prothrombin G20210A genotypes in women with a history of recurrent idiopathic miscarriages

Abstract

Thrombophilia was implicated in the development of pregnancy complications, including recurrent idiopathic pregnancy loss, and is aggravated in women who are carriers of factor V G1691A (FV Leiden) and prothrombin (PRT) G20210A single-nucleotide polymorphisms (SNPs). Previous studies examined the role of FV-Leiden and PRT G20210A in recurrent pregnancy loss with conflicting results. Here we examined the prevalence of FV Leiden and PRT G20210A SNPs, in 200 women with 3 or more consecutive early (n = 87), late (n = 41), or early-late (n = 72) recurrent pregnancy losses, and 200 age-matched fertile parous control women. APC resistance (APCR) was detected functionally (measuring the activated clotting time triggered by activated factor X in presence of a fixed amount of purified APC), and FV-Leiden and PRT G20210A genotypes were assessed by PCR. The frequency of the mutant FV (0.1400 vs. 0.0276; P < 0.001) but not PRT 20210 (0.0100 vs. 0.0225; P = 0.159) allele was higher in patients than controls, respectively. APC resistance with factor V Leiden was seen in 27% of patients compared to 11.5% of controls, while APC resistance without factor V Leiden was seen in 12.5% of patients compared to 9.5% of controls. Regression analysis demonstrated that the significant predictors for early abortion was FV Leiden; those for late abortion were oral contraceptive, APCR, and FV Leiden; and predictors for early-late abortions were oral contraceptives, obesity, FV Leiden, and smoking. APC resistance and FV Leiden, as well as combination of both, are common thrombotic defects seen in women with idiopathic recurrent pregnancy loss, thus testing for these is recommended in women who have experienced recurrent miscarriages. Am.

Can Factor V Leiden and prothrombin G20210A testing in women with recurrent pregnancy loss result in improved pregnancy outcomes?: Results from a targeted evidence-based review

“…53,55,56,59,60,67,74,84,94,107 All but three of the 45 remaining studies satisfied HardyWeinberg criteria (χ2; test; P ≥ 0.05); these three were excluded. 77,103,108 Of interest, two of these studies 77,108 were in a small subset of studies conducted in non European white populations. Using a random effects model, the summary OR for 42 studies was 2.34 (95% CI: 1.88-2.92; P < 0.001), with moderate heterogeneity (I 2 = 45%; P < 0.001).…”

“…The OR in the first group was higher (ORs of 3.94 and 2.02, respectively; P = 0.11). Had the two Tunisian studies 77,108 been included, the difference would have been statistically significant (ORs of 4.35 and 2.02, respectively; P = 0.005). Differences may have resulted from relatively high (15% 62 and 11% 71 ) or low (1%…”

“…) observed carrier rates, failure to satisfy HardyWeinberg criteria, 77,108 and other variables (e.g., methodological differences, ascertain ment, and other biases).…”

Heterozygous Factor V Leiden R506Q Mutation Causing a Life-Threatening Bilateral Pulmonary Embolism in a Young Man With Influenza A Pneumonitis

“…It can be as common as lower extremity deep venous thrombosis [7] or rare recurrent central retinal vein thromboembolic showering [8]. Some authors recommend testing for FVL mutation in women experiencing recurrent unexplained miscarriages [9]. Our patient had two risk factors stacked against him: first being a heterozygous FVL R506Q mutation carrier, and second enduring a protracted hospitalization.…”

The significance of genetic polymorphisms of factor V leiden and prothrombin in the preeclamptic polish women

“…It has been demonstrated that adverse outcome or fatal course of pregnancy (recurrent miscarriages, intrauterine growth restriction, placenta abruption, still birth, and susceptibility to develop preeclampsia/ eclampsia) could be significantly connected with presence of thrombotic polymorphic genetic variants which act as single risk factor or, most probably, cooperate together [3][4][5][6][7]. Additionally, impact of thrombotic risk factors might be intensified by pathophysiological processes and circumferential factors [8][9][10].…”