Ivanov P, Gecheva Sv, Tsvyatkovska Tsv, Georgieva G, Komsa-Penkova R, Konova E, Simeonova M, Tanchev St
Akush Ginekol (Sofiia). 2012;51(4):3-7.
Because of the presence of additional confounding factors, such as cervical incompetence or uterine infections, the impact of inherited thrombophilia in women with second infertility has been hard to assess. The evaluation of the significance of the most common inherited thrombophilic factors - Factor V Leiden (FVL), prothrombin gene mutation 20210 G > A (FII), polymorphism (PL) 677 C > T in MTHFR, PL A1/A2 in platelet glycoprotein IIb/IIIa and PAL-1 PL 4G/5G in 35 women with two or more secondary (who have given birth to at least one child) recurrent pregnancy loss (RPL) before 14 weeks of gestation compared to 70 healthy women with no history of RPL and at least one uncomplicated full-term pregnancy, has been performed. Eight out of 35 women with secondary RPL (25.7%) and 6 out of 70 controls (8.6%) have had FVL or FII 20210 G > A (OR: 3.7, 95% CI: 1.05-13.2, p = 0.038). Five (14.3%) women with secondary infertility were carriers for FVL and four (11.4%) for FII 20210 G > A, corresponding to four (5.7%) and two (2.9%) of the women in the control group. The carrier status for MTHFR 677 C > T (TT genotype), PL A1/A2 and PL 4G/5G (4G/4G genotype) was as follows: 11.4%, 28% and 30.8% in patients and 14.3%, 17.1% and 24.3% in controls without significant difference between the groups. Despite of the presence of background factors, an appreciable role of inherited thrombophilia in secondary RPL was established, which enforces thrombophilia testing and management of women with second infertility as well as women with primary RPL.
由于存在其他混杂因素，如宫颈机能不全或子宫感染，遗传性血栓形成倾向在继发性不孕女性中的影响一直难以评估。对35名有两次或更多次继发性（已生育至少一个孩子）复发性流产（RPL）且妊娠14周前流产的女性与70名无RPL病史且至少有一次无并发症足月妊娠的健康女性进行了评估，比较了最常见的遗传性血栓形成倾向因素——凝血因子V莱顿突变（FVL）、凝血酶原基因突变20210 G>A（FII）、亚甲基四氢叶酸还原酶（MTHFR）基因多态性677 C>T、血小板糖蛋白IIb/IIIa的PL A1/A2以及纤溶酶原激活物抑制因子-1（PAI-1）基因多态性4G/5G（4G/4G基因型）的意义。35名继发性RPL女性中有8名（25.7%）以及70名对照中有6名（8.6%）存在FVL或FII 20210 G>A（比值比：3.7，95%置信区间：1.05 - 13.2，p = 0.038）。5名（14.3%）继发性不孕女性为FVL携带者，4名（11.4%）为FII 20210 G>A携带者，对照组女性中分别为4名（5.7%）和2名（2.9%）。MTHFR 677 C>T（TT基因型）、PL A1/A2以及PL 4G/5G（4G/4G基因型）的携带情况如下：患者组分别为11.4%、28%和30.8%，对照组分别为14.3%、17.1%和24.3%，两组间无显著差异。尽管存在背景因素，但遗传性血栓形成倾向在继发性RPL中所起的重要作用得以确立，这强化了对继发性不孕女性以及原发性RPL女性进行血栓形成倾向检测和管理的必要性。
