A NESTED CASE CONTROL STUDY EVALUATING THE ASSOCIATION BETWEEN THE FACTOR V LEIDEN GENOTYPE AND ADVERSE PREGANCY OUTCOME

在一般人群中，每20人中就有1人存在凝血因子V Leiden基因突变。最近的研究表明，莱顿因子V基因突变与不良妊娠结局之间存在关联。目前建议有反复流产史的妇女，包括妊娠中期或晚期宫内死亡的妇女，应筛查凝血因子V莱顿突变。对照试验目前正在进行中，评估抗凝治疗对筛查阳性妇女的疗效。然而，目前不建议进行人群筛查，因为我们不知道因子V莱顿基因突变对既往无不良妊娠结局史的妇女的意义。为什么有些妇女与因子V莱顿突变的经验，而其他妇女没有复发性流产的问题仍然没有答案。本研究的主要目的是确定是否母亲和-或胎儿的基因型因子V莱顿影响的风险，第一和第二个三个月流产的队列中的25,000名孕妇。在这一领域进一步研究的目的是确定一个子集的妇女在中期或晚期胎儿丢失的风险增加，基于遗传，后天和环境的血栓形成的风险因素的组合，谁可能受益于预防性治疗与抗凝治疗。

The factor V Leiden gene mutation is present in 1 in 20 of the general population. Recent studies suggest an association between the factor V Leiden gene mutation and adverse pregnancy outcomes. It is currently recommended that women with a history of recurrent pregnancy loss, including a second or third trimester intrauterine death should be screened for the factor V Leiden mutation. Controlled trials are currently underway assessing efficacy of treatment with anticoagulaton therapy for women who screen positive. However, population screening is currently not recommended because we do not know the significance of a factor V leiden gene mutation for women without a previous history of adverse pregnancy outcome. The question of why some women with a factor V Leiden mutation experience recurrent pregnancy loss whereas other women do not remains unanswered. The primary aim of this study is to determine whether the maternal and- or fetal genotype for factor V Leiden influences the risk of first and second trimester miscarriage within a cohort of 25,000 pregnant women. The aim of further research in this area is to identify a subset of women at increased risk of a second or third trimester fetal loss, based on a combination of genetic, acquired and environmental thrombophilic risk factors, who may benefit from prophylactic treatment with anticoagulation therapy.