Which are the most common thrombophilic genetic nucleotide polymorphisms in infertile women undergoing an IVF cycle?

Abstract

Introduction: Thrombophilia is considered one of the causes of infertility, especially after repeated failures of IVF techniques. The aim of this work is to evaluate the incidence of thrombophilia in women who underwent IVF cycles and assess the outcome of the techniques.

Methods: In vivo study. The study sample was composed of 262 women undergoing a fresh cycle of in vitro fertilization (IVF) cycle of Intracytoplasmatic Sperm Injection (ICSI) from July 2012 to December 2014 in the Center of Physiopathology of Human Reproduction. Amongst these patients, we have selected 96 patients with indication for thrombophilia screening.

Results: Thrombophilia screening detects that only 8% (n = 8) of the patients was negative to all the studied mutations, while the remaining 92% (n = 88) was positive to at least one mutation. The most common mutations were MTHFR gene (C677T) (91,84%), ACE gene (54,88%) and PAI-1 gene (69,44%).

Conclusion: Our results showed an increased frequency of genetic nucleotide polymorphisms in women reporting failures in IVF techniques. Differently from scientific literature data, in our work, the most frequent mutation affects the enzyme gene MTHFR, particularly the C667T mutation; on the other side, mutations of factor V and II are less common.

Chinese abstract

介绍: 血栓形成倾向被认为是不育的原因之一, 尤其是在IVF技术反复失败以后

。本工作的目的是评估进入IVF周期妇女血栓形成的发病率以及评估该技术的结局。

方法: 在体研究。研究样本由2012年7月至2014年12月在人类生殖生理病理学中心的262名正在进行新的卵胞浆内精子注射 (ICSI) 体外受精(IVF)周期妇女组成。这些患者中, 我们选择了96例有血栓形成倾向筛查指征的患者。

结果: 血栓形成倾向筛选检测到只有8％ (n = 8) 的患者所有已研究的基因突变均为阴性, 而剩余的92％ (n = 88) 至少一个基因突变是阳性的。最常见的突变是MTHFR基因 (C677T) (91, 84％) , ACE基因 (54, 88％) 和PAI-1基因 (69, 44％) 。

结论: 我们的结果显示报告IVF技术失败的妇女有基因核苷酸多态性的频率增加

。与科学文献数据不同, 我们的研究中, 最常见的突变影响了酶基因MTHFR, 特别是C667T突变；另一方面, V因子和II因子的突变较不常见。

Keywords:

• Implantation
• infertility
• intracytoplasmic sperm injection
• in vitro fertilization
• thrombophilia

Declaration of interest

The authors report no declarations of interest.