男性不育患者精子染色体畸变的检测及其对ICSI影响的研究

Sperm Chromosomal Abnormalities among Infertile Males and Relationship with Abnormalities and ICSI Outcome

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 analyze incidence of sperm chromosomal abnormalities among infertile men and relationship with the abnormalities and ICSI outcome. Methods： 32 infertile men with normal chromosomes who received a treatment by ICSI and 5 normal fertile men as a control group were selected randomly. Of them, there were 8 men with oligospermia, 9 severe oligozoospermia, 11 obstructive azoospermia and 5 failure insemination after IVF. Frequency of chromosome 13, 18, 21 disomy and aneuploidy in infertile patients was investigated by fluorescence in - situ hybridization （FISH）. Relationship among incidence of chromosomal abnormalities, fertilization rate, cleavage rate, excellent embryo rate, embryo transfer rate and abortion rate was studied. Results： Frequency of sex chromosome aneuploidy was clearly increasing in oligospermic men （0. 58%, 0. 25% ,P 〈0. 001 ） and general expressions were disomy XY, XX and YY. Disomy frequency of sex chromosome （ 0. 94%, 0. 25% ） , chromosome 13 （ 0. 40%, 0. 09% ） , chromosome 21 （ 0. 48%, 0. 10% ）and rates of dipoidy in severe oligozoospermic men （0. 43% ,0. 09% ） were higher than that in con- trol group （ P 〈 O. 001 ）. Disomy frequency of sex chromosome （ 1.43%, O. 25% ） and rates of dipoidy （0. 32% ,0. 09% ） in obstructive azoospermic men were higher that in control group （ P 〈0. 001 ）. Indexes in 5 cases of failure insemination after IVF were not different from ones in control group. There was lower fer- tilization rate, less excellent embryos, lower embryo transfer rate and increasing abortion rate after a treatment of ICSI in obstructive azoospermic men. Conclusion： It is useful and necessary to screen chromosomal abnormalities by fluorescence in - situ hybridization （FISH） before a treatment of ICSI.