Research question

What is the effect of parental origin of translocation and predictors for obtaining a euploid embryo in preimplantation genetic testing for chromosomal structural rearrangements (PGT-SR) for balanced translocation carriers?

Design

A total of 179 PGT-SR cycles and 614 blastocysts from 123 couples carrying a balanced translocation were retrospectively analysed. Next-generation sequencing (NGS) was performed after trophectoderm biopsy.

Results

There were no differences in ovarian stimulation parameters or PGT-SR outcomes regarding the number of oocytes retrieved (11.95 ± 5.71 versus 11.82 ± 6.26), blastulation rate (0.42 ± 0.27 versus 0.45 ± 0.28), biopsy cancellation rate (11.7% versus 12.9%), the number of blastocysts for biopsy (3.70 ± 2.58 versus 4.04 ± 3.51), or the proportion of euploid embryos (23.80% versus 25.42%), aneuploid embryos (58.10% versus 57.52%) and mosaic embryos (18.10% versus 17.06%) between female carriers and male partner carriers. In a multivariate logistic regression model, the number of blastocysts for biopsy (adjusted odds ratio 1.752; 95% confidence interval 1.359–2.259; P < 0.001) was significantly associated with the chance of obtaining at least one euploid embryo. Receiver operating characteristic analysis with a threshold of 3.5 was conducted to calculate the number of blastocysts required for biopsy to obtain at least one euploid embryo.

Conclusions

The parental origin of translocation does not significantly affect the PGT-SR outcomes for young balanced translocation carriers. At least 3.5 blastocysts are required to obtain one euploid embryo. Couples should be informed that the probability of obtaining one euploid embryo is low when fewer than 4 blastocysts are obtained in one PGT cycle.

中文翻译：

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在平衡易位携带者中获得整倍体胚胎的父母来源和预测因素的影响

研究问题

在平衡易位携带者的染色体结构重排 (PGT-SR) 植入前基因检测中，易位的父母来源和获得整倍体胚胎的预测因子有何影响？

设计

回顾性分析了来自 123 对携带平衡易位的夫妇的 179 个 PGT-SR 周期和 614 个囊胚。在滋养外胚层活检后进行二代测序 (NGS)。

结果

在取卵数（11.95 ± 5.71 vs 11.82 ± 6.26）、囊胚率（0.42 ± 0.27 vs 0.45 ± 0.28）、活检取消率（11.7% vs 12.9%）方面，卵巢刺激参数或 PGT-SR 结果没有差异)、活检的囊胚数量 (3.70 ± 2.58 vs 4.04 ± 3.51)，或整倍体胚胎的比例 (23.80% vs 25.42%)、非整倍体胚胎 (58.10% vs 57.52%) 和镶嵌胚胎 (18.10% vs 17.06%) ) 女性携带者和男性伴侣携带者之间。在多变量逻辑回归模型中，活检的囊胚数量（调整优势比 1.752；95% 置信区间 1.359-2.259；P < 0.001) 与获得至少一个整倍体胚胎的机会显着相关。进行阈值为 3.5 的接受者操作特征分析，以计算活检获得至少一个整倍体胚胎所需的胚泡数量。

结论

易位的父母来源不会显着影响年轻平衡易位携带者的 PGT-SR 结果。获得一个整倍体胚胎至少需要 3.5 个囊胚。应告知夫妇，当在一个 PGT 周期中获得少于 4 个囊胚时，获得一个整倍体胚胎的可能性很低。