基于Array-CGH技术的胚胎植入前遗传学诊断在XYY综合征患者中的应用

目的 评估基于Array-CGH技术的植入前遗传学诊断(PGD) 对超雄综合征(XYY综合征)患者胚胎染色体进行分析的应用效果.方法 研究选取行PGD助孕的5例XYY患者及15例染色体易位患者,对两组的女方年龄、精子浓度、前向运动精子比例、获卵数、第二次减数分裂中期(MII)卵子数、优质胚胎数、染色体异常率进行比较.结果 XYY组和染色体易位组在女方年龄、精子浓度、PR、获卵数、MII卵子数、优质胚胎数均差异无统计学意义,PGD检测结果中,两组的染色体异常率差异无统计学意义.XYY组活检21枚胚胎,其中10枚胚胎为常染色体异常,1枚为性染色体异常.非整倍体率为52.38%,常染色体异常为47.62%,性染色异常为4.80%.结论 XYY综合征患者行体外受精时有和男性染色体易位患者类似的胚胎染色体异常率,Array-CGH可同时检测XYY综合征患者全部染色体情况,避免大量异常胚胎植入女方体内,有利于降低子代出生缺陷,值得临床应用.

PGD for 47,XYY karyotype patientsbased on array comparative genomic hybridization

Objective To evaluate the aneuploidy rates of embryos from men with 47,XYY karyotypes by using the Array-CGH.Methods Five patients with XYY syndrome and the fifteen patients carrying chromosome translocations consulted for infertility and were enrolled.Maternal age,sperm concentration,PR,oocytes,MII oocytes,high quality embryos and aneuploidy of embryos were compared.The t test and the x2 test were used for statistical analysis.Results There were no statistically significant differences in maternal age,sperm concentration,PR,oocytes,MII oocytes,high quality embryos and aneuploidy of embryos between the two groups;a total of 21 embryos in group XYY were biopsied,10(47.62%) of them were autosome aneuploidy embryos and only one embryo(4.80%) has sex chromosome problem.Conclusion Array-CGH is used to screening for aneuploidy of all 24 chromosomes simultaneously,the data from which shows that the aneuploidy rate in embryos in group XYY is as high as that in group translacation,male with a 47,XYY karyotype should be recommended to use PGD to avoid the risk of transferring embryos with potentially aneuploidies.