Tanacan Atakan, Beksac Mehmet Sinan
Division of Perinatology, Department of Obstetrics and Gynecology, Hacettepe University, Ankara, Turkey.
JBRA Assist Reprod. 2019 Oct 14;23(4):361-366. doi: 10.5935/1518-0557.20190034.
This study aimed to describe the impact on achieving spontaneous pregnancy of treating patients with at least one failed in-vitro fertilization (IVF) cycle for autoimmune disorders, hereditary thrombophilia, and methylation disorders.
Fifty-three patients who met the enrollment criteria seen between January 2007 and October 2017 were included in this retrospective cohort study. The patients were retrospectively assessed for the presence of hereditary thrombophilia, methylenetetrahydrofolate reductase (MTHFR) polymorphisms, serum vitamin B12/folate/homocysteine levels, and autoimmune antibody positivity. The required data were extracted from the institutional patient database. Statistical analyses were performed on Statistical Package for the Social Sciences (SPSS.22®). The Kolmogorov-Smirnov test was used to evaluate the distribution of the data, and since the data did not following a normal distribution, proportions and median (minimum-maximum) values were used.
The 53 patients included in the study had singleton pregnancies. The distribution of autoantibodies was as follows: thyroid peroxidase (n=17); antithyroglobulin (n=11); double-stranded DNA (n=4); antinuclear (n=8); anti-smooth muscle (n=1); and anticardiolipin IgG and IgM (n=1). Autoimmune diseases included Hashimoto's thyroiditis (n=23); SLE (n=7); Behcet's disease (n=1); Sjogren's syndrome (n=1); ulcerative colitis (n=1); and anti-phospholipid antibody syndrome (n=1). Ten patients had heterozygous Factor V Leiden thrombophilia; two had homozygous Factor 5 Leiden thrombophilia; and three had the prothrombin 20210A heterozygous mutation. Twenty-eight patients were positive for autoantibodies and hereditary thrombophilia and/or MTHFR polymorphisms.
Evaluation and management of hereditary thrombophilia, MTHFR gene polymorphisms, and/or autoimmune conditions may be beneficial for patients with unexplained infertility.
本研究旨在描述针对自身免疫性疾病、遗传性血栓形成倾向和甲基化紊乱且至少经历过一次体外受精（IVF）周期失败的患者进行治疗对实现自然妊娠的影响。
本回顾性队列研究纳入了2007年1月至2017年10月期间符合纳入标准的53例患者。对患者进行回顾性评估，以确定是否存在遗传性血栓形成倾向、亚甲基四氢叶酸还原酶（MTHFR）基因多态性、血清维生素B12/叶酸/同型半胱氨酸水平以及自身免疫抗体阳性情况。所需数据从机构患者数据库中提取。使用社会科学统计软件包（SPSS.22®）进行统计分析。采用Kolmogorov-Smirnov检验评估数据分布，由于数据不服从正态分布，因此使用比例和中位数（最小值 - 最大值）。
纳入研究的53例患者均为单胎妊娠。自身抗体分布如下：甲状腺过氧化物酶（n = 17）；抗甲状腺球蛋白（n = 11）；双链DNA（n = 4）；抗核抗体（n = 8）；抗平滑肌抗体（n = 1）；抗心磷脂IgG和IgM（n = 1）。自身免疫性疾病包括桥本甲状腺炎（n = 23）；系统性红斑狼疮（SLE，n = 7）；白塞病（n = 1）；干燥综合征（n = 1）；溃疡性结肠炎（n = 1）；抗磷脂抗体综合征（n = 1）。10例患者存在杂合子因子V莱顿血栓形成倾向；2例为纯合子因子V莱顿血栓形成倾向；3例存在凝血酶原20210A杂合子突变。28例患者自身抗体、遗传性血栓形成倾向和/或MTHFR基因多态性呈阳性。
对遗传性血栓形成倾向、MTHFR基因多态性和/或自身免疫状况进行评估和管理可能对不明原因不孕症患者有益。
