Dong Fan, Zheng Zhong, Ding Ying, Ma Yi, Wang Si-Qi, Chen Xiang-Feng, Ping Ping
Department of Reproductive Medicine, Ren Ji Hospital Shanghai Jiao Tong University School of Medicine Shanghai China.
Shanghai Key Laboratory for Assisted Reproduction and Reproductive Genetics Shanghai China.
Reprod Med Biol. 2025 Apr 22;24(1):e12650. doi: 10.1002/rmb2.12650. eCollection 2025 Jan-Dec.
This pilot study aimed to explore the necessity for 47,XYY syndrome males (couples) to perform PGT rather than conventional In Vitro Fertilization (IVF)/Intracytoplasmic Sperm Injection (ICSI) cycles.
A retrospective cohort study was conducted with 36 nonmosaic and mosaic 47,XYY syndrome patients (couples) undergoing 43 oocyte retrieval cycles (37 planned for PGT and 6 for IVF/ICSI) between December 2017 and December 2023. The couples were given either next-generation sequencing-based PGT or conventional IVF/ICSI followed by 45 embryo transfer (ET) cycles (38 from PGT and 7 from IVF/ICSI). The detailed cytogenetic results of the 129 embryos from PGT were analyzed, and the pregnancy and neonatal outcomes between PGT-ET and conventional IVF/ICSI-ET cycles were compared.
The PGT results showed that the chance of sex chromosome abnormalities was low (1.55%), with chromosomal errors being observed more often in autosomes. Importantly, no differences were observed in the rates of biochemical pregnancy, implantation, clinical pregnancy, ongoing pregnancy, pregnancy loss, live birth, and preterm delivery between PGT-ET cycles and conventional IVF/ICSI-ET cycles. Comparable results regarding gestational age, birthweight, low birthweight rate, macrosomia rate, male rate, as well as the rate of congenital anomalies were also observed between the two groups.
Preimplantation genetic testing might not be necessary to conduct for 47,XYY syndrome males unless there are other indications. Studies with large populations are in demand to confirm the present results.
本前瞻性研究旨在探讨47,XYY综合征男性（夫妇）进行植入前基因检测（PGT）而非传统体外受精（IVF）/卵胞浆内单精子注射（ICSI）周期的必要性。
进行了一项回顾性队列研究，纳入了2017年12月至2023年12月期间接受43个取卵周期的36例非嵌合型和嵌合型47,XYY综合征患者（夫妇）（37个计划进行PGT，6个进行IVF/ICSI）。这些夫妇接受了基于下一代测序的PGT或传统IVF/ICSI，随后进行了45次胚胎移植（ET）周期（38次来自PGT，7次来自IVF/ICSI）。分析了PGT的129个胚胎的详细细胞遗传学结果，并比较了PGT-ET和传统IVF/ICSI-ET周期之间的妊娠和新生儿结局。
PGT结果显示，性染色体异常的几率较低（1.55%），染色体错误在常染色体中更常见。重要的是，PGT-ET周期和传统IVF/ICSI-ET周期之间在生化妊娠、着床、临床妊娠、持续妊娠、流产、活产和早产率方面没有观察到差异。两组在胎龄、出生体重、低出生体重率、巨大儿率、男性率以及先天性异常率方面也观察到了可比的结果。
对于47,XYY综合征男性，除非有其他指征，否则可能无需进行植入前基因检测。需要进行大样本研究以证实目前的结果。
