PDF(Pubmed)
Abstract：
Background and Objectives: This retrospective cohort study investigates the role of genetic thrombophilia in pregnant women experiencing early pregnancy loss compared to those with late pregnancy loss. Materials and Methods: Participants were categorized into early and late pregnancy loss groups based on gestational age. A total of 156 patients were included, out of which 103 had early-trimester pregnancy losses and 96 had multiple miscarriages. Results: The study revealed a synergistic effect of Factor V Leiden (FVL G1691A) and Methylenetetrahydrofolate Reductase (MTHFR C677T) mutations (coefficient 3.42). Prothrombin (PT) G20210A and β-Fibrinogen 455 G>A mutations exhibited a significant interaction (coefficient 1.98). Additionally, MTHFR A1298C and Plasminogen Activator Inhibitor-1 (PAI-1 4G/5G) mutations showed a significant interaction (coefficient 1.65). FVL G1691A and Endothelial Protein C Receptor (EPCR) allele A1/A2 mutations also demonstrated a significant association (coefficient 2.10). Lastly, MTHFR C677T and Glycoprotein IIb/IIIa T1565C mutations interacted significantly (coefficient 1.77). Risk factor analysis identified several mutations associated with early pregnancy loss, including PAI-1 4G/5G homozygous (OR 3.01), FVL G1691A heterozygous (OR 1.85), and MTHFR A1298C heterozygous (OR 1.55). Both homozygous and heterozygous MTHFR C677T mutations were significant risk factors (OR 2.38; OR 2.06), as was PT G20210A homozygous mutation (OR 1.92). The PAI-1 4G/4G homozygous variant posed a risk (OR 1.36). Late pregnancy loss was associated with MTHFR A1298C homozygous mutation (OR 3.79), β-Fibrinogen 455 G>A heterozygous mutation (OR 2.20), and MTHFR A1298C heterozygous mutation (OR 2.65). Factor XIII G1002T heterozygous mutation (OR 1.18) and PAI-1 4G/5G homozygous mutation (OR 2.85) were also significant risk factors. EPCR allele A1/A2 (OR 1.60) and A2/A3 (OR 1.73) mutations were identified as significant risk factors for late pregnancy loss. Furthermore, FVL G1691A homozygous mutation, PT G20210A homozygous mutation, MTHFR C677T heterozygous mutation, MTHFR A1298C heterozygous mutation, and EPCR allele A1/A2 were identified as significant risk factors for multiple miscarriage. Conclusions: This study highlights significant interactions and risk factors related to genetic thrombophilia mutations in different types of pregnancy loss, contributing valuable insights for miscarriage management guidelines.
摘要：
背景和目的：这项回顾性队列研究调查了与妊娠晚期流产相比，妊娠早期流产的孕妇中遗传性血栓形成的作用。材料和方法：根据孕龄将参与者分为早期和晚期妊娠丢失组。共纳入156名患者，其中103例早孕流产，96例多次流产。结果：该研究揭示了因子V莱顿（FVLG1691A）和亚甲基四氢叶酸还原酶（MTHFRC677T）突变的协同作用（系数3.42）。凝血酶原(PT)G20210A和β-纤维蛋白原455G>A突变表现出显著的相互作用(系数1.98)。此外,MTHFRA1298C和纤溶酶原激活剂抑制剂-1(PAI-14G/5G)突变显示出显著的相互作用(系数1.65)。FVLG1691A和内皮蛋白C受体(EPCR)等位基因A1/A2突变也表现出显著的相关性(系数2.10)。最后,MTHFRC677T和糖蛋白IIb/IIIaT1565C突变显著相互作用(系数1.77)。危险因素分析确定了与早期妊娠丢失相关的几种突变，包括PAI-14G/5G纯合（OR3.01），FVLG1691A杂合子（OR1.85），和MTHFRA1298C杂合（OR1.55）。纯合和杂合MTHFRC677T突变均为显著危险因素(OR2.38;OR2.06),PTG20210A纯合突变（OR1.92）。PAI-14G/4G纯合变体构成风险(OR1.36)。妊娠晚期丢失与MTHFRA1298C纯合突变（OR3.79）相关，β-纤维蛋白原455G>A杂合突变（OR2.20），和MTHFRA1298C杂合突变（OR2.65）。因子XIIIG1002T杂合突变(OR1.18)和PAI-14G/5G纯合突变(OR2.85)也是显著的危险因素。EPCR等位基因A1/A2（OR1.60）和A2/A3（OR1.73）突变被鉴定为晚期妊娠丢失的重要危险因素。此外，FVLG1691A纯合突变,PTG20210A纯合突变,MTHFRC677T杂合突变,MTHFRA1298C杂合突变,和EPCR等位基因A1/A2被确定为多次流产的重要危险因素。结论：这项研究强调了在不同类型的妊娠丢失中，与遗传性血栓性突变相关的重要相互作用和危险因素。为流产管理指南提供有价值的见解。
