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目的初步探讨Y染色体臂间倒位[inv(Y)]携带者不孕症患者的临床效应及其进行体外授精及胚胎移植(包括常规IVF或ICSI)后的妊娠结局。方法回顾分析44例inv(Y)携带者的病史及完成辅助生育治疗后病例的胚胎着床率、临床妊娠率、流产率、死胎分娩率、畸形率等指标。结果 30例inv(Y)患者完成30个IVF/ICSI治疗周期,其胚胎着床率、临床妊娠率、流产率、死胎分娩率、胎儿畸形率与染色体正常对照组间均无显著性差异。结论多数inv(Y)携带者表现为一种染色体多态性改变,不具有病理学意义,个别inv(Y)病例可能涉及某些功能基因的损伤,临床上表现为生精异常或反复性流产,因此inv(Y)的临床及遗传效应可能与其具体的断裂位点有关,仍需进一步的探讨。inv(Y)患者行体外授精及胚胎移植后与染色体正常人群的临床妊娠结局并无明显的差异。
Objective To investigate the clinical effect of Y-arm inversions [inv (Y)] and the pregnancy outcome after in vitro fertilization and embryo transfer (including conventional IVF or ICSI). Methods Retrospective analysis of 44 cases of inv (Y) carriers of the history and completion of assisted reproductive postoperative embryo implantation rate, clinical pregnancy rate, abortion rate, stillbirth rate, abnormality rate and other indicators. Results Thirty cases of inv (Y) patients completed 30 IVF / ICSI treatment cycles. There was no significant difference in embryo implantation rate, clinical pregnancy rate, abortion rate, stillbirth rate, fetal malformation rate and normal chromosome control group. CONCLUSION: Most inv (Y) carriers show a chromosomal polymorphism with no pathological significance. Individual inv (Y) cases may involve damage of some functional genes, and clinical manifestations include abnormal spermatogenesis or recurrent miscarriage Therefore, the clinical and genetic effects of inv (Y) may be related to their specific site of cleavage, and further investigation is still needed. There were no significant differences in clinical pregnancy outcomes between inv (Y) patients and those with normal chromosomes after IVF and embryo transfer.