Dilley A, Benito C, Hooper W C, Austin H, Miller C, El-Jamil M, Cottrell S, Benson J, Evatt B L, Patterson-Bamett A, Eller D, Philipp C
Division of AIDS, STD, National Center for Infectious Diseases, Centers for Disease Control and Prevention, US Department of Health and Human Services, Atlanta, Georgia 30333, USA.
J Matern Fetal Neonatal Med. 2002 Mar;11(3):176-82. doi: 10.1080/jmf.11.3.176.182.
Recurrent fetal loss, defined as the occurrence of three or more consecutive spontaneous abortions regardless of previous live birth, is a condition that affects about 2% of all reproductive-aged women. The role of gene mutations in recurrent pregnancy loss is not fully understood. The present research examined the relationship between factor V Leiden, factor V HR2, prothrombin G20210A and MTHFR and recurrent fetal loss in a case-control study.
Women aged 22-45 with a history of three or more fetal losses, being seen at a perinatal medicine clinic in New Jersey or Georgia, were eligible as cases. Overall, the study consisted of 60 women with three or more fetal losses and 92 women with at least one successful pregnancy.
Factor V HR2 and MTHFR were not related to recurrent fetal loss. The prothrombin G20210A mutation appeared to confer an elevation in risk but the association was based upon small numbers and was not statistically significant (OR 4.8, 95% CI 0.50-47.2). Cases were 90% less likely to have the factor V Leiden mutation than controls (OR 0.10, 95% CI 0.01-0.81).
Our study did not demonstrate that women who are carriers of the factor V, prothrombin, or MTHFR mutations are at higher risk of recurrent fetal loss than women without these mutations. In regards to factor V Leiden, the prevalence in our cases (1.7%) was not statistically different from the known population prevalence of 5%. However, the high prevalence in our controls (14%) was unusual. Factor V Leiden may protect against bleeding in early pregnancy.
复发性流产被定义为连续发生三次或三次以上自然流产，无论之前是否有活产，这种情况影响约2%的育龄妇女。基因突变在复发性流产中的作用尚未完全明了。本研究通过病例对照研究探讨了凝血因子V莱顿突变、凝血因子V HR2、凝血酶原G20210A和亚甲基四氢叶酸还原酶（MTHFR）与复发性流产之间的关系。
年龄在22至45岁之间、有三次或三次以上流产史、在新泽西州或佐治亚州围产医学诊所就诊的女性符合病例标准。本研究共纳入60例有三次或三次以上流产史的女性和92例至少有一次成功妊娠的女性。
凝血因子V HR2和MTHFR与复发性流产无关。凝血酶原G20210A突变似乎会增加风险，但这种关联基于少量样本，无统计学意义（比值比4.8，95%置信区间0.50 - 47.2）。病例携带凝血因子V莱顿突变的可能性比对照低90%（比值比0.10，95%置信区间0.01 - 0.81）。
我们的研究未表明携带凝血因子V、凝血酶原或MTHFR突变的女性比未携带这些突变的女性有更高的复发性流产风险。关于凝血因子V莱顿突变，我们病例组中的患病率（1.7%）与已知人群患病率5%无统计学差异。然而，我们对照组中的高患病率（14%）并不寻常。凝血因子V莱顿突变可能对早期妊娠出血有保护作用。
