Purpose

The purpose of this study is to summarize the clinical outcomes of apparently balanced chromosome rearrangement (ABCR) carriers in preimplantation genetic testing (PGT) cycles by next-generation sequencing following microdissecting junction region (MicroSeq) to distinguish non-carrier embryos from balanced carriers.

Methods

A retrospective study of 762 ABCR carrier couples who requested PGT for structural rearrangements combined with MicroSeq at the Reproductive and Genetic Hospital of CITIC-Xiangya was conducted between October 2014 and October 2019.

Results

Trophectoderm biopsy was performed in 4122 blastocysts derived from 917 PGT-SR cycles and 3781 blastocysts were detected. Among the 3781 blastocysts diagnosed, 1433 (37.9%, 1433/3781) were balanced, of which 739 blastocysts were carriers (51.57%, 739/1433) and 694 blastocysts were normal (48.43%, 694/1433). Approximately 26.39% of cycles had both carrier and normal embryo transfer, and the average number of biopsied blastocysts was 6.7. In the cumulative 223 biopsied cycles with normal embryo transfer, all couples chose to transfer the normal embryos. In the 225 cycles with only carrier embryos, the couples chose to transfer the carrier embryos in 169/225 (75.11%) cycles. A total of 732 frozen embryo transfer cycles were performed, resulting in 502 clinical pregnancies. Cumulatively, 326 babies were born; all of these babies were healthy and free of any developmental issues.

Conclusion

Our study provides the first evaluation of the clinical outcomes of a large sample with ABCR carrier couples undergoing the MicroSeq-PGT technique and reveals its powerful ability to distinguish between carrier and non-carrier balanced embryos.

中文翻译：

---

染色体平衡重排夫妇植入前基因检测和显微解剖连接区后的临床结果

目的

本研究的目的是通过显微解剖连接区 (MicroSeq) 后的下一代测序来总结明显平衡染色体重排 (ABCR) 携带者在植入前基因检测 (PGT) 周期中的临床结果，以区分非携带者胚胎与平衡携带者。

方法

2014 年 10 月至 2019 年 10 月，在中信湘雅生殖遗传医院对 762 对 ABCR 携带者夫妇进行了 PGT 结构重排联合 MicroSeq 的回顾性研究。

结果

在来自 917 个 PGT-SR 周期的 4122 个囊胚中进行滋养外胚层活检，检测到 3781 个囊胚。在确诊的3781个囊胚中，1433个（37.9%，1433/3781）是平衡的，其中739个囊胚为携带者（51.57%，739/1433），694个囊胚正常（48.43%，6394/144）。大约 26.39% 的周期同时进行了携带者和正常胚胎移植，活检囊胚的平均数量为 6.7。在正常胚胎移植的累积 223 个活检周期中，所有夫妇都选择了移植正常胚胎。在仅有携带者胚胎的 225 个周期中，夫妻选择在 169/225 (75.11%) 个周期中移植携带者胚胎。总共进行了 732 个冷冻胚胎移植周期，导致 502 例临床妊娠。累计出生326名；

结论

我们的研究首次对接受 MicroSeq-PGT 技术的 ABCR 携带者夫妇的大样本临床结果进行了评估，并揭示了其区分携带者和非携带者平衡胚胎的强大能力。