Wang Yizi, Ma Yuanlin, Tan Yanling, Wang Jing, Pan Jiafu, Song Junli, Wang Yali, Xu Yanwen
Reproductive Medicine Center, The First Affiliated Hospital, Sun Yat-Sen University, Yuexiu District, Zhongshan 2nd Road No. 1, Guangzhou, 510080, Guangdong, China.
Guangdong Provincial Key Laboratory of Reproductive Medicine, Yuexiu District, Guangzhou, 510080, Guangdong, China.
Arch Gynecol Obstet. 2025 Jul 12. doi: 10.1007/s00404-025-08101-8.
It is disputable whether chromosomal translocations lead to an inferior embryo development. The purpose of this study was to evaluate whether structural rearrangements (SR) affect blastocyst formation as compared to monogenic disorders in preimplantation genetic testing (PGT) cycles.
A total of 791 PGT-SR cycles and 757 PGT-M cycles from January 2021 to May 2023 were included.
Lower blastocyst formation (graded 3BB or higher) rate was detected in the PGT-SR group compared with the control PGT-M group. In addition, lower proportion of day 5 blastocysts was found in the PGT-SR group compared with the control PGT-M group. Overall, a comparatively 12.7% lower proportion of eligible blastocysts in PGT-SR cycles. As expected, there were fewer balanced/normal blastocysts for transfer in the PGT-SR group (balanced/normal blastocysts rate, 32.3 vs. 59.9%, P = 0.02). The estimated curve by inverse model showed that yields of transferrable balanced/normal blastocyst per cycle came to a plateau stage followed with a rapid rise once the oocytes retrieved reached to the number of 20.4 in PGT-M cycle and 28.3 in PGT-SR cycle respectively.
Our results demonstrated that patients with SR had a high chance of obtaining lower blastocyst development and significantly fewer usable blastocysts available for transfer compared to PGT-M in their first ovarian stimulation cycle.
染色体易位是否会导致胚胎发育不良存在争议。本研究的目的是评估在植入前基因检测（PGT）周期中，与单基因疾病相比，结构重排（SR）是否会影响囊胚形成。
纳入2021年1月至2023年5月期间的791个PGT-SR周期和757个PGT-M周期。
与对照PGT-M组相比，PGT-SR组的囊胚形成率（分级为3BB或更高）较低。此外，与对照PGT-M组相比，PGT-SR组中第5天囊胚的比例较低。总体而言，PGT-SR周期中符合条件的囊胚比例相对低12.7%。正如预期的那样，PGT-SR组中可供移植的平衡/正常囊胚较少（平衡/正常囊胚率，32.3%对59.9%，P = 0.02）。反向模型估计曲线显示，在PGT-M周期中，每个周期可移植的平衡/正常囊胚产量在回收卵母细胞达到20.4个时达到平台期，随后迅速上升；在PGT-SR周期中，当回收卵母细胞达到28.3个时达到平台期。
我们的结果表明，与PGT-M相比，SR患者在首次卵巢刺激周期中获得较低囊胚发育的可能性很高，并且可供移植的可用囊胚明显减少。
