胚胎停育的实验室检测技术研究进展

Advances in Laboratory Detection Techniques for Embryonic Arrest

胚胎停育是常见的妇产科疾病,且发生率呈上升趋势,严重影响患者的身心健康。多种危险因素可导致胚胎停育,其中遗传学因素最为常见,故精准地找到胚胎停育的病因是预防再次妊娠失败的重要手段。传统的细胞培养核型分析技术是胚胎停育遗传学诊断的金标准,但仍具有一定的应用局限性。原位荧光杂交技术、荧光定量聚合酶链反应、多重连接探针扩增技术、微阵列技术及高通量测序等分子诊断技术可弥补核型分析的不足,与核型分析联合应用可提高异常染色体检出率,为胚胎停育提供有效的诊断依据。了解胚胎停育的危险因素,选择合理的诊断技术,有利于更快速、经济、准确地查找病因,并对临床治疗及干预有积极作用。

Embryonic arrest is a common obstetric and gynecological disease, and the incidence is on the rise, seriously affecting the patients＇ physical and mental health. A variety of risk factors can lead to embryonic arrest, among which genetic factors are the most common. To accurately detect the causes of embryonic arrest is an important means to prevent the second pregnancy failure. The traditional cell culture karyotype analysis technique is the gold standard for the genetic diag- nosis of embryonic arrest, but still has some application limitations. Fluorescence in situ hybridization, quantitative fluores- cent-polymerase chain reaction, multiplex ligation-dependent probe amplification, microarray technology and high-throughput sequencing and other molecular diagnostic techniques can compensate for the deficiency of karyotype analysis, which com- bined with karyotype analysis can improve the abnormal chromosome detection rate and provide more effective clinical basis for the diagnosis of embryonic arrest. Understanding the risk factors of embryonic arrest and reasonable choice of laboratory diagnostic techniques are helpful to find the causes of diseases more quickly, economically and accurately, which will play a positive role in the clinical treatment and intervention.