Impact of different patterns of sperm chromosomal abnormalities on the chromosomal constitution of preimplantation embryos
Impact of different patterns of sperm chromosomal abnormalities on the chromosomal constitution of preimplantation embryos
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DOI：
10.1016/j.fertnstert.2009.05.061
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发表时间：
2010-09-01
影响因子：
6.7
通讯作者：
Rubio, Carmen
中科院分区：
文献类型：
--
作者：
Rodrigo, Lorena;Peinado, Vanessa;Rubio, Carmen
目的：探讨精子染色体异常（性染色体二体和二倍体）对着床前胚胎染色体构成的影响。设计：回顾性队列研究。工作地点：不孕不育诊所。患者：三组：46，XY不育男性，精子性染色体畸变发生率增高；46、精子二倍体率增高的XY不育男性；精子性染色体二体和二倍体率增高的XYY不育男性。干预：收集精子进行荧光原位杂交分析。胚胎活检用于着床前遗传学筛查。主要观察指标：精子中13、18、21、X和Y染色体的数量异常频率，胚胎中13、16、18、21、22、X和Y染色体的数量异常频率。结果：与对照组相比，三个研究组中染色体异常和嵌合胚胎的数量显著增加。那些性染色体二体率增加的精子样本产生的非整倍体胚胎的比例明显更高，性染色体增加了三倍。二倍体率增加的精子样本主要与三倍体胚胎的产生有关。结论：在46、XY和47、XYY核型的不育男性中，精子与胚胎染色体构成有很强的相关性。[j] .中国农业科学（英文版），2010;22(4):559 - 561。(C) 2010年，美国生殖医学学会。)
Objective: To evaluate the effect of sperm chromosome abnormalities-disomy for sex chromosomes and diploidy-in the chromosomal constitution of preimplantation embryos.Design: Retrospective cohort study.Setting: Infertility clinic.Patient(s): Three groups: 46, XY infertile men with increased incidence of sex chromosome disomy in sperm; 46, XY infertile men with increased diploidy rates in sperm; 47, XYY infertile men with increased sex chromosome disomy and diploidy rates in sperm.Intervention(s): Sperm collection for fluorescence in situ hybridization analysis. Embryo biopsy for preimplantation genetic screening.Main Outcome Measure(s): Frequencies of numerical abnormalities in sperm for chromosomes 13, 18, 21, X, and Y, and in embryos for chromosomes 13, 16, 18, 21, 22, X, and Y.Result(s): A significant increase of chromosomally abnormal and mosaic embryos was observed in the three study groups compared with controls. Those sperm samples with increased sex chromosome disomy rates produced significantly higher percentages of aneuploid embryos, with a threefold increase for sex chromosomes. Sperm samples with increased diploidy rates were mainly associated to the production of triploid embryos.Conclusion(s): A strong correlation between sperm and embryo chromosomal constitution has been shown in infertile men with 46, XY and 47, XYY karyotypes. (Fertil Steril (R) 2010;94:1380-6. (C) 2010 by American Society for Reproductive Medicine.)