遗传性易栓症与不良妊娠结局的研究进展

近年研究发现妊娠期易栓症的发生呈增加趋势。易栓症分为遗传性易栓症和获得性易栓症，遗传性易栓症主要与凝血基因突变所致的蛋白表达异常有关，包括因子V Leiden（FVL）、凝血酶原基因 G20210A、亚甲基四氢叶酸还原酶（MTHFR）基因突变以及蛋白S（PS）、蛋白C（PC）和抗凝血酶（AT）缺乏等。凝血、抗凝及纤溶系统功能失调可引起胎盘灌注不良，不良妊娠结局如子痫前期（PE）、胎盘早剥、胎儿生长受限（FGR）和习惯性流产等可能与此有关。但遗传性易栓症是否是造成不良妊娠结局的直接因素以及预防性抗凝是否可以改善妊娠结局仍需进一步探讨。综述遗传性易栓症与不良妊娠结局的关系，评估预防性抗凝的必要性，为临床诊断和治疗提供思路。

The Research Progress on Inherited Thrombophilia and Adverse Pregnancy Outcomes

In recent years, it has been found that the incidence of thrombophilia during pregnancy tends to increase. Thrombophilia is divided into inherited thrombophilia and acquired thrombophilia. Inherited thrombophilia is mainly related to abnormal protein expression caused by coagulation gene mutation, including factor V Leiden (FVL) mutation, prothrombin gene G20210A mutation, methylenetetrahydrofolate reductase (MTHFR) gene mutation, protein S (PS) deficiency, protein C (PC) deficiency and antithrombin (AT) deficiency. Coagulation, anticoagulation, and dysfunction of the fibrinolysis system can cause poor placental perfusion, and adverse pregnancy outcomes such as pre-eclampsia (PE), placental abruption, fetal growth restriction (FGR), and habitual abortion may be associated with this. However, whether inherited thrombophilia is a direct cause of adverse pregnancy outcomes and whether prophylactic anticoagulation can improve pregnancy outcomes remains to be further explored. This review aims to illustrate the relationship between inherited thrombophilia and adverse pregnancy outcomes, so as to assess the need for preventive anticoagulation, and to provide ideas for clinical diagnosis and treatment.