OBJECTIVE To describe the outcome of preimplantation genetic testing (PGT-A) using their own oocytes in patients with mosaic Turner Syndrome (MTS). The impact of the assisted reproduction technique (ART) performed (PGT-A or oocyte donation) and the type of absence of the X chromosome (total or partial) were considered. DESIGN Retrospective observational multicenter study. SETTING University-affiliated private in vitro fertilization center. PATIENT(S) Fifty-six patients with MTS with whom 65 ovarian stimulation cycles for PGT-A (fluorescence in situ hybridization/arrays-next generation sequencing) were performed. The study included 90 women with MTS and 20 women with pure Turner Syndrome (PTS) who underwent 140 and 25 oocyte donation (OD) cycles, respectively. INTERVENTION(S) In vitro fertilization for PGT-A (fluorescence in situ hybridization/arrays-next generation sequencing) or OD. MAIN OUTCOME MEASURE (S) Reproductive outcome and feto-maternal outcomes. RESULTS The live birth rate (LBR) per embryo transfer in patients with MTS tended to be higher in OD 37.7% (95% confidence interval [CI]: 29.3-46.1) than that observed for PGT-A 22.5% (95% CI 7.8-38.2), and the cumulative LBR (CLBR), with 77.6% vs. 43.3%, respectively. Likewise, the LBR per patient was significant when comparing PGT-A vs. OD, with 12.5% (95 CI 3.9-21.1) vs. 51.1% (40.7-61.4), respectively. While focusing on the X chromosome, partial MTS (PTS), we found significant differences in the CLBR per embryo transfer, with 77.6% vs. 29.2%, and also in the LBR per patient: 51.1% (40.7-61.4) in MTS vs. 15% (95 CI 0.0-30.1) in PTS. CONCLUSION(S) Oocyte donation is the best reproductive option in females with Turner Syndrome with or without mosaicisms. Nevertheless, PGT-A is a valid therapeutic option in patients with MTS using their own oocytes, and OD should not necessarily be directly recommended.

中文翻译：

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使用自己的卵母细胞对部分 X 单体患者进行非整倍体的植入前基因检测：这是一个合适的适应症吗？

目的 描述使用自己的卵母细胞对马赛克特纳综合征 (MTS) 患者进行胚胎植入前基因检测 (PGT-A) 的结果。所进行的辅助生殖技术 (ART) 的影响（PGT-A 或卵母细胞捐赠）和 X 染色体缺失的类型（全部或部分）被考虑在内。设计 回顾性观察性多中心研究。SETTING 大学附属私人体外受精中心。患者 56 名 MTS 患者进行了 65 个卵巢刺激周期的 PGT-A（荧光原位杂交/阵列-下一代测序）。该研究包括 90 名 MTS 女性和 20 名纯特纳综合征 (PTS) 女性，她们分别接受了 140 和 25 个卵母细胞捐赠 (OD) 周期。干预（S） PGT-A（荧光原位杂交/阵列-下一代测序）或 OD 的体外受精。主要结果测量 (S) 生殖结果和胎儿-母体结果。结果 MTS 患者每次胚胎移植的活产率 (LBR) 在 OD 37.7% (95% 置信区间 [CI]: 29.3-46.1) 中高于 PGT-A 22.5% (95% CI 7.8) -38.2) 和累积 LBR (CLBR)，分别为 77.6% 和 43.3%。同样，在比较 PGT-A 与 OD 时，每位患者的 LBR 显着，分别为 12.5% (95 CI 3.9-21.1) 与 51.1% (40.7-61.4)。在关注 X 染色体、部分 MTS (PTS) 的同时，我们发现每次胚胎移植的 CLBR 有显着差异，分别为 77.6% 和 29.2%，每个患者的 LBR 也有显着差异：MTS 和 LBR 分别为 51.1% (40.7-61.4) . 15% (95 CI 0.0-30.1) 在 PTS 中。结论(S) 捐卵是特纳综合征女性有或没有嵌合体的最佳生殖选择。尽管如此，对于使用自己卵母细胞的 MTS 患者，PGT-A 是一种有效的治疗选择，不一定直接推荐 OD。