基因突变致辅助生殖反复失败患者的治疗现状及展望

Treatment and prospects of patients with recurrent IVF failures caused by mutations

摘要:

不孕不育已成为全世界人类第三大疾病，随着辅助生殖技术的广泛应用，每年有上百万人借助辅助生殖技术解决不孕不育问题。然而临床中有很多患者辅助生殖反复失败，原因包括配子发育异常、受精障碍及早期胚胎停滞等。随着基因测序技术的发展及生殖遗传学研究的深入，越来越多的遗传致病因素被发现。针对这些疾病表型的基因检测应运而生， 通过基因检测可以帮助患者早期诊断及明确病因，避免过度的反复无效尝试。然而如何在基因检测的同时对反复辅助生殖失败患者进行治疗已成为新的关注热点。本文就近年来反复辅助生殖失败的遗传因素、治疗现状及潜在的干预策略进行汇总，为个体化诊疗提供参考。

Abstract:

Infertility has become the third largest human disease in the world. With the wide application of in vitro fertilization (IVF), millions of people solve the problem of infertility by IVF every year. However, many patients experience recurrent IVF failures, displaying abnormal reproductive phenotypes (such as gamete development abnormalities, fertilization disorders, and early embryonic discontinuation). With the development of gene sequencing technology and the deepening of reproductive genetics research, more and more pathogenic genetic factors have been discovered. Genetic testing for these reproductive phenotypes can help patients make an early diagnosis and avoid repeated ineffective attempts. However, the treatment of the patients with recurrent IVF failures after genetic testing has become a new focus of attention. In this paper, the genetic factors, the treatment and potential intervention strategies of recurrent IVF failures in recent years are summarized to provide a reference for individualized diagnosis and treatment.