克氏综合征患者胚胎植入前遗传学诊断的临床价值

Clinical Value of Preimplantation Genetic Diagnosis in Patients with Klinefelter Syndrome

目的探讨新一代高通量测序植入前遗传学诊断(NGS-PGD)对于克氏综合征患者的临床应用价值。方法采用新一代高通量测序技术对5例克氏综合征患者的囊胚进行了全部23对染色体的检测,取同期因反复流产行植入前遗传学筛查的20例患者作为对照,比较两组患者的临床资料。结果两组患者的女方年龄、平均获卵数、MⅡ率、卵裂率和可利用囊胚形成率间差异均无统计学意义(均P>0.05);克氏综合征组的受精率明显低于反复流产组(62.6%vs.77.0%,P<0.05),克氏综合征组的染色体非整倍体率低于反复流产组,但差异无统计学意义(29.4%vs.39.0%,P>0.05)。在克氏综合征组检测的17个囊胚中,未发现性染色体异常,5个异常的囊胚均为常染色体的非整倍体。结论克氏综合征患者囊胚中性染色体异常比例极低,并不一定需要专门针对性染色体进行检测,但鉴于其存在一定的常染色体非整倍体发生率,植入前遗传学诊断仍具有一定的实用价值。

Objective To explore the value of a new generation of high-throughput sequencing preimplantation genetic diagnosis(NGS-PGD)for patients with Klinefelter syndrome.Methods A total of23pairs of chromosomes were detected in5cases of Klinefelter’s blastocysts using a new generation of high-throughput sequencing technology.Twenty patients with preimplantation genetic screening for recurrent miscarriage were used as controls.The clinical data of the two groups of patients were compared.Results There were no significant differences in the age,average number of oocytes retrieved,MⅡrate,cleavage rate and available blastocyst formation rate between the two groups(P>0.05).The fertility rate in the Klinefelter syndrome group was significantly lower than that in the abortion group(62.6%vs.77.0%,P<0.05),and the chromosome aneuploidy rate was lower in the Klinefelter syndrome group than in the abortion group,but there was no statistically significant difference(29.4%vs.39.0%,P>0.05).Among the17blastocysts detected in the Klinefelter syndrome,no sex chromosome abnormalities were found,and all5abnormal blastocysts were autosomal aneuploidy.Conclusion The proportion of abnormal sex chromosome in blastocysts of Klinefelter syndrome is extremely low and it is not necessary to specifically test sex chromosomes.However,given possibility of presence of an autosomal aneuploidy,PGD still has a certain practical value.