OBJECTIVE To determine if translocation carriers have a reduced number of usable blastocysts compared to infertile controls. DESIGN Retrospective cohort study. SUBJECTS All cycles of balanced translocation carriers undergoing IVF with preimplantation genetic testing (PGT-SR) for structural rearrangements at a single infertility center compared to an age-matched control cycles of infertile patients undergoing preimplantation genetic testing for aneuploidy (PGT-A) from January 2012-August 2022. EXPOSURE Balanced translocation carriers. MAIN OUTCOME MEASURES Primary outcome measures were blastulation rate, usable blastulation rates and live birth rate. Secondary outcome measures were sustained implantation rate, fertilization rate, number of oocytes retrieved, number of metaphase II oocytes, total blastulation failure, number of 2 pronuclear embryos, and number of euploid embryos. Outcome measures were compared between male translocation carriers and controls, female translocation carriers and controls, and Robertsonian versus reciprocal translocation carriers. RESULTS A total of 1,291 retrieval cycles from 993 patients were included, of which 255 patients were translocation carriers, while 738 were controls. Of those with translocations, 30 (11.5%) were Robertsonian and 231 (88.5%) were reciprocal carriers. There was a statistically significant difference in the blastulation rate between carriers and controls (59.5% versus 62.1%; p-value = 0.01). However, usable blastulation rates (47.2% versus 50.0%) were equivalent between groups. There were no differences in number of oocytes retrieved (18.5 versus 18.3), number of 2 pronuclear embryos (13.4 versus 12.5), sustained implantation rate (71.4% versus 75.1%) or live birth rate (63.0% versus 66.1%) between translocation carriers and controls. In both male and female translocation carriers versus controls, there were no differences in usable blastulation rates or live birth rates. When comparing Robertsonian with reciprocal translocation carriers, rates of blastulation, usable blastulation, sustained implantation, and live birth rate were equivalent. CONCLUSION Despite fewer euploid embryos, there were no differences in rates of usable blastulation or live birth rates in balanced translocation carriers, regardless of sex of affected partner or type of rearrangement, compared to controls. Routine karyotyping for blastulation failure may not be necessary based on these findings.

中文翻译：

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与不孕对照组相比，亲本平衡易位携带者的可用爆破率或活产率没有降低。


目的 确定与不育对照组相比，易位携带者的可用囊胚数量是否减少。设计 回顾性队列研究。对象： 与 2012 年 1 月至 2022 年 8 月接受植入前非整倍体基因检测 （PGT-A） 的不孕症患者的年龄匹配对照周期相比，在单个不孕症中心接受 IVF 植入前基因检测 （PGT-SR） 结构重排的所有周期。暴露 平衡易位携带者。主要结局指标 主要结局指标是爆破率、可用爆破率和活产率。次要结局指标是持续着床率、受精率、取卵数、中期 II 卵母细胞数、总爆破失败率、2 个原核胚胎数和整倍体胚胎数。比较了男性易位携带者和对照、女性易位携带者和对照以及 Robertsonian 与互惠易位携带者之间的结局测量。结果 共纳入 993 例患者的 1,291 个检索周期，其中 255 例为易位携带者，738 例为对照。在易位者中，30 例 （11.5%） 是 Robertsonian，231 例 （88.5%） 是互惠携带者。携带者和对照组之间的爆破率存在统计学上的显著差异 （59.5% vs 62.1%;p 值 = 0.01）。然而，两组之间的可用爆破率 （47.2% 对 50.0%） 是相当的。取卵数 （18.5 对 18.3） 、2 个原核胚胎数量 （13.4 对 12.5） 、持续着床率 （71.4% 对 75.1%） 或活产率 （63.0% 对 66） 没有差异。1%）。在男性和女性易位携带者与对照组中，可用爆破率或活产率没有差异。当将 Robertsonian 与互易位携带者进行比较时，爆破率、可用爆破率、持续植入率和活产率是相等的。结论 尽管整倍体胚胎较少，但与对照组相比，无论受影响伴侣的性别或重排类型如何，平衡易位携带者的可用爆破率或活产率均无差异。基于这些发现，可能不需要对爆破失败进行常规核型分析。