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目的:探讨男性不育患者精子染色体畸变率及其对ICSI结果的影响。方法:随机选取外周血细胞染色体正常、行ICSI治疗的男性不育患者32例,其中少精症8例、严重少精症9例、阻塞性无精症经皮附睾穿刺吸精子11例、精液正常但常规IVF不受精患者4例以及5例对照组。应用荧光原位杂交技术检测了各类男性不育患者精子性染色体、13、18、21号染色体非整倍体的发生率和二倍体的发生率,统计分析这些染色体畸变的发生率与ICSI后的受精率、卵裂率、优质胚胎率、妊娠率、胚胎种植率以及流产率之间的关系。结果:少精症组精子性染色体非整倍体发生率明显升高(0.58%、0.25%,P<0.001),常见的形式为精子XY二体、XX二体以及YY二体;在严重少精症组,精子性染色体二体率(0.94%、0.25%)、13号染色体二体率(0.40%、0.09%)、21号染色体二体率(0.48%、0.10%)、二倍体率(0.43%、0.09%)明显高于对照组,有显著性差异(P<0.001);在阻塞性无精症组,性染色体二体率(1.43%、0.25%)、二倍体率(0.32%、0.09%)明显高于对照组,有显著性差异(P<0.001)。在IVF不受精组,各项检测指标与对照组相比无明显差异。严重少精症组ICSI后的优质胚胎率、妊娠率以及胚胎种植率明显下降,流产率升高。结论:在行ICSI治疗前,用FISH方法进行精子染色体畸变的检测是有效的,也是必要的;对检测阳性的患者,在行ICSI后对早期胚胎进行遗传学检测可减少或避免遗传缺陷的发生。
Objective: To investigate the sperm chromosome aberration rate and its effect on ICSI in male infertility patients. Methods: Thirty-two male infertile patients with normal peripheral blood chromosomes were enrolled in this study. Eight cases of oligozoospermia, nine cases of severe oligozoospermia, eleven cases of obstructive azoospermia percutaneous epididymal aspiration and normal sperm However, 4 cases of conventional IVF unfertilized patients and 5 cases of control group. Fluorescence in situ hybridization was used to detect the incidence of sperm chromosomes, chromosomes 13, 18 and 21 aneuploidy and the incidence of diploid in various male infertility patients. Statistical analysis of the incidence of these chromosomal aberrations and ICSI Fertilization rate, cleavage rate, quality embryo rate, pregnancy rate, embryo implantation rate and the relationship between abortion rate. Results: The incidence of sperm aneuploidy was significantly higher in oligozoospermia group (0.58%, 0.25%, P <0.001). Common forms were sperm XY, XX and YY, Serum sex chromosomes (0.94%, 0.25%), dystonia rate (0.40%, 0.09%) on chromosome 13, dyadic rate on chromosome 21 (0.48%, 0.10%), diploid rate (0.43%, 0.09%) were significantly higher than those in the control group (P <0.001). In the patients with obstructive azoospermia, the rates of sex chromosomes (1.43%, 0.25%), diploid rates %, 0.09%) was significantly higher than the control group, there was a significant difference (P <0.001). IVF insemination group, the test indicators compared with the control group no significant difference. In the severe oligozoospermia group, the rate of high-quality embryo, pregnancy and embryo implantation decreased significantly and the abortion rate increased. Conclusion: It is effective and necessary to detect the chromosomal aberrations of sperm by FISH before ICSI treatment. For patients with positive detection, genetic testing of early embryos after ICSI can reduce or avoid the occurrence of genetic defects .