助孕治疗前遗传学检查的临床意义

Clinical significance of the genetics inspection before ART

目的探讨不孕不育患者接受辅助生殖技术治疗前进行遗传学检查的临床意义,为临床提供治疗和遗传咨询的依据。方法941例不孕不育患者行外周血染色体检查;其中383例无精子、严重少精子男性不育患者同时行Y染色体微缺失检测。结果941例受检者的异常检出率为20.09%;男性不育患者的异常检出率为26.63%(102/383)。结论染色体异常及Y染色体微缺失是不孕不育的重要遗传病因;助孕治疗前进行遗传学检查对于临床避免盲目治疗和提高辅助生殖技术安全性具有重要意义。

Objective： To discusses the clinical significance of the genetics inspection before the sterility patient accepted the assistance reproduction technology treatment. For clinical provides the treatment and the heredity consultation basis. Methods： Chromosome were examined in 941 cases of sterility patients, in 383 cases of azoospermic or severe oligozoospermic among them Y - chromosome microdeletion were examined , at the same time. Results ： In the sterility patients the detection rate of the genetics abnormality is 20.09%, the abnormality detection rate of the male infertility is 26.63% . Conclusion： Chromosomal abnormality and Y chromosome microdeletion are the important etiology of the sterility. The genetics inspection may avoid blind treatment and raise the safety of the assistance reproduction technology.