生殖医学杂志

目的 探讨植入前染色体重排检测（PGT-SR）在染色体结构异常患者中的临床应用价值。方法 回顾性分析2019年1月至2025年6月因染色体结构异常在我院生殖医学中心接受卵胞浆内单精子注射（ICSI）、PGT-SR的患者（PGT组，共238个ICSI周期）与同期仅接受ICSI的患者（对照组，共1 594个ICSI周期）的临床资料。PGT组又根据染色体结构异常不同分为罗氏易位组（61个ICSI周期）、平衡易位组（131个ICSI周期）、倒位组（46个ICSI周期）。比较各组患者的一般资料及胚胎发育情况，分析PGT组患者的PGT-SR结果，并对PGT组与对照组患者中冻融胚胎移植（FET）周期的一般资料与妊娠结局进行比较分析。结果 不同染色体结构异常组与对照组的一般资料、胚胎发育情况比较均无显著性差异（P>0.05）。PGT组中，罗氏易位组与倒位组的囊胚整倍体率显著高于平衡易位组（P<0.05），平衡易位组的囊胚非整倍体率显著高于罗氏易位组与倒位组（P<0.05），平衡易位组的无可用囊胚周期率显著高于罗氏易位组与倒位组（P<0.05）；染色体结构异常不同性别亚组的PGT-SR结果比较显示，女方罗氏易位组的囊胚非整倍体率显著高于男方罗氏易位组（P<0.05），男方倒位组的囊胚非整倍体率显著高于女方倒位组（P<0.05）。PGT组与对照组FET周期的一般资料、移植优质囊胚率、移植日内膜厚度、宫内妊娠率等比较均无显著性差异（P>0.05），但PGT组的流产率显著低于对照组（P<0.05），活产率显著高于对照组（P<0.05）。结论 对于染色体结构异常的患者，应用PGT-SR有助于筛选整倍体囊胚移植，可显著改善其FET结局。

Objectives:To explore the clinical application value of preimplantation genetic testing for structural rearrangements(PGT-SR)in patients with chromosomal structural abnormalities.Methods:A retrospective analysis was conducted on the clinical data of patients with chromosomal structural abnormalities who underwent intracytoplasmic sperm injection(ICSI)and PGT-SR in the Reproductive Medicine Center of Xuzhou Maternity & Child Health Care Hospital from January 2019 to June 2025(PGT group,totaling 238 ICSI cycles)and those who only received ICSI during the same period(control group,totaling 1 594 ICSI cycles).The PGT group was further categorized based on different chromosomal structural abnormalities:Robertsonian translocation group(61 ICSI cycles),balanced translocation group(131 ICSI cycles),and inversion group(46 ICSI cycles).The general characteristics and embryonic development of each group were compared,the PGT-SR results of the PGT group were analyzed,and a comparative analysis was performed on the general characteristics and pregnancy outcomes of frozen-thawed embryo transfer(FET)cycles between the PGT group and the control group.Results:There were no significant differences in general data and embryonic development between different groups with chromosomal structural abnormalities and the control group(P>0.05).In the PGT group,the euploidy rates in the Robertsonian translocation group and the inversion group were significantly higher than that in the balanced translocation group(P<0.05),while the aneuploidy rate in the balanced translocation group was significantly higher than those in the Robertsonian translocation group and the inversion group(P<0.05).Additionally,the rate of cycles with no available blastocysts in the balanced translocation group was significantly higher than those in the Robertsonian translocation group and inversion group(P<0.05).Comparisons of PGT-SR results across gender subgroups revealed that the aneuploidy rate in the female Robertsonian translocation group was significantly higher than that in the male Robertsonian translocation group(P<0.05),and the aneuploidy rate in the male inversion group was significantly higher than that in the female inversion group(P<0.05).No significant differences were observed in general data of FET cycles,the rate of high-quality blastocyst transfers,endometrial thickness on the day of transfer,and intrauterine pregnancy rates between the PGT group and the control group(P>0.05).However,the miscarriage rate in the PGT group was significantly lower than that in the control group(P<0.05),and the live birth rate was significantly higher(P<0.05).Conclusions:For patients with chromosomal structural abnormalities,the application of PGT-SR is beneficial to select whole blastocyst for transfer,and can significantly improve their FET outcomes.