亚甲基四氢叶酸还原酶 C677T 突变与胎儿丢失风险：病例系列及文献复习。
The 5, 10 methylenetetrahydrofolate reductase C677T mutation and risk of fetal loss: a case series and review of the literature.
机构信息
Mount Sinai Medical Center, 1 Gustave L, Levy Pl,, New York, USA.
出版信息
Thromb J. 2007 Oct 17;5:17. doi: 10.1186/1477-9560-5-17.
BACKGROUND
The true relationship between methylenetetrahydrofolate reductase C677T homozygosity and risk of recurrent spontaneous abortion is unknown, and it is unclear if women with these mutations should be anticoagulated during pregnancy.
OBJECTIVES
We report a series of 8 patients with this issue and review the current literature.
METHODS
8 patients (3 of whom were actively pregnant) were referred with histories of spontaneous fetal loss; hypercoaguability work-ups revealed each were homozygous for the MTHFR C677T mutation without other thrombophilias.
RESULTS
In the 3 women who have conceived, treatment with LMW heparin during pregnancy led to two full-term births and one additional pregnancy without complication. For the 5 who have not, we recommended treatment with LMW heparin upon conception.
CONCLUSION
We provide evidence to support the relationship between MTHFR C677T mutations and recurrent fetal loss, and to suggest that anticoagulation of these patients during pregnancy can lead to a successful pregnancy outcome.
背景
亚甲基四氢叶酸还原酶 C677T 纯合子与复发性自然流产风险之间的真实关系尚不清楚，也不清楚这些突变的女性是否应该在怀孕期间抗凝。
目的
我们报告了一系列 8 例此类患者，并回顾了当前文献。
方法
8 例（其中 3 例处于活跃妊娠状态）因自然胎儿丢失史就诊；高凝状态检查结果显示，每位患者均为亚甲基四氢叶酸还原酶 C677T 突变纯合子，无其他血栓形成倾向。
结果
在已经怀孕的 3 名女性中，在怀孕期间使用低分子肝素治疗导致 2 例足月分娩和 1 例无并发症的额外妊娠。对于未怀孕的 5 例，我们建议在怀孕时使用低分子肝素进行治疗。
结论
我们提供的证据支持 MTHFR C677T 突变与复发性胎儿丢失之间的关系，并表明对这些患者在怀孕期间进行抗凝治疗可获得成功的妊娠结局。
Zotero 插件