Turgal Mert, Gumruk Fatma, Karaagaoglu Ergun, Beksac Mehmet Sinan
Department of Obstetrics and Gynecology, Hacettepe University School of Medicine, Ankara, Turkey.
Department of Pediatric Hematology, Hacettepe University School of Medicine, Ankara, Turkey.
Geburtshilfe Frauenheilkd. 2018 Sep;78(9):871-878. doi: 10.1055/a-0664-8237. Epub 2018 Sep 14.
Aim of the study was to evaluate the effect of methylenetetrahydrofolate reductase (MTHFR) polymorphisms on pregnancy outcome. A total of 617 pregnancies of women who were investigated for MTHFR C677T and A1298C polymorphisms prior to pregnancy were included in the study. Cases were classified into "homozygous polymorphisms" (Group I), "heterozygous polymorphisms" (Group II), and patients without polymorphisms who functioned as controls (Group III). Patients with polymorphisms were assigned to a specific protocol at least 3 months before becoming pregnant. Administration of low molecular weight heparin (LMWH) was started very early during pregnancy. The Beksac Obstetrics Index (BOI) was used to estimate the obstetric risk levels for the different groups. We found that the early pregnancy loss (EPL) rate increased as MTHFR polymorphism complexity increased and that the early EPL rate was significantly higher in patients with MTHFR C677T polymorphism compared to patients with MTHFR A1298C polymorphism (p = 0.039). There were significant differences between the previous pregnancies of the patients in the 3 study groups in terms of perinatal complications and EPLs (p = 0.003 and p = 0.019). The BOI decreased as the severity of polymorphisms increased. An association between MTHFR polymorphisms and congenital malformations and chromosomal abnormalities was observed. We could not demonstrate any statistically significant difference between study groups when the 3 groups were compared with regard to the pregnancy outcomes under specific management protocols. MTHFR polymorphisms are potential risk factors for adverse pregnancy outcomes.
本研究的目的是评估亚甲基四氢叶酸还原酶（MTHFR）基因多态性对妊娠结局的影响。共有617例在孕前接受MTHFR C677T和A1298C基因多态性检测的孕妇纳入本研究。病例分为“纯合子多态性”（I组）、“杂合子多态性”（II组），无多态性的患者作为对照组（III组）。有基因多态性的患者在怀孕前至少3个月被指定接受特定方案。在妊娠早期即开始使用低分子肝素（LMWH）。使用贝克萨克产科指数（BOI）评估不同组的产科风险水平。我们发现，随着MTHFR基因多态性复杂性增加，早期妊娠丢失（EPL）率升高，且MTHFR C677T基因多态性患者的早期EPL率显著高于MTHFR A1298C基因多态性患者（p = 0.039）。3个研究组患者既往妊娠在围产期并发症和EPL方面存在显著差异（p = 0.003和p = 0.019）。随着多态性严重程度增加，BOI降低。观察到MTHFR基因多态性与先天性畸形和染色体异常之间存在关联。当在特定管理方案下比较3组的妊娠结局时，我们未发现研究组之间存在任何统计学上的显著差异。MTHFR基因多态性是不良妊娠结局的潜在危险因素。
