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Fertil Steril. 2023 Nov;120(5):957-966. doi: 10.1016/j.fertnstert.2023.07.022. Epub 2023 Jul 31.
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J Clin Med. 2023 Apr 19;12(8):2983. doi: 10.3390/jcm12082983.
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Two clinical case reports of embryonic mosaicism identified with PGT-A persisting during pregnancy as true fetal mosaicism.两例胚胎嵌合体经植入前遗传学检测-胚胎植入前遗传学筛查技术鉴定并在妊娠期间持续存在,被确认为真正的胎儿嵌合体。
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The concordance rates of an initial trophectoderm biopsy with the rest of the embryo using PGTseq, a targeted next-generation sequencing platform for preimplantation genetic testing-aneuploidy.使用PGTseq(一种用于植入前基因检测-非整倍体的靶向新一代测序平台)对初始滋养外胚层活检结果与胚胎其他部分进行的一致性率。
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9
Mosaic human preimplantation embryos and their developmental potential in a prospective, non-selection clinical trial.马赛克人类胚胎及其在一项前瞻性、非选择临床研究中的发育潜能。
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The "mosaic" embryo: misconceptions and misinterpretations in preimplantation genetic testing for aneuploidy.“镶嵌型”胚胎:非整倍体植入前基因检测中的误解与误读
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对胚胎滋养外胚层活检后分类为整倍体、嵌合体和非整倍体的胚胎进行延时分析。

Time-lapse analysis of embryos classified as euploid, mosaic, and aneuploid after embryonic trophectoderm biopsy.

作者信息

Listorti Ilaria, Pirastu Giulia, Ruberti Alessandra, Barberi Marzia, Pristerà Andrea, Zazzaro Vincenzo, Spinella Francesca, Varricchio Maria Teresa, Viotti Manuel, Greco Ermanno, Greco Pierfrancesco

机构信息

Reproductive Medicine Department, Villa Mafalda, Via Monte Delle Gioie 5, 00199, Rome, Italy.

Faculty of Bioscience and Agro-Food and Environmental Technologies, University of Teramo, Via Balzarini 1, 64100, Teramo, Italy.

出版信息

J Assist Reprod Genet. 2025 Jan;42(1):125-138. doi: 10.1007/s10815-024-03364-7. Epub 2025 Jan 20.

DOI:10.1007/s10815-024-03364-7
PMID:39832027
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11806175/
Abstract

PURPOSE

Analyze morphokinetic, morphology, and KIDscore™Day5 in different PGT-A classes, focusing on putative mosaicism level and type.

METHODS

The single-center retrospective study analyzed 832 embryoscope-cultured blastocysts from cycles with at least one putative mosaic, conducted from 2020 to 2022. A P-value < 0.05 was considered statistically significant.

RESULTS

Putative mosaic embryos were significantly delayed compared to euploid in tPNF, t2, t4, t7, and t8 but significantly faster than aneuploid in tPNF, t2, t3, t4, t5, tSC, tM, tSB, and tB. Regarding the level, low-putative mosaic embryos (< 50%) showed significantly earlier tSC, tM, tSB, and tB compared to aneuploid, whereas high-putative mosaic embryos exhibited significantly earlier tSB and tB. Concerning the type of putative mosaicism, segmental aneuploidies reached significantly earlier t8, tM, and tB than complex aneuploidies. The study also investigated the usefulness of KIDscore™Day5 for embryo selection as an additional tool to PGT-A. A significant decrease in KIDscore™Day5 was observed from euploid to low-putative mosaic, from high-putative mosaic to aneuploid, and between segmental and complex-putative mosaic. The observed differences in KIDscore™Day5 were partially confirmed by transfer results: euploid blastocysts showed the most favorable clinical outcomes compared to low- and high-putative mosaics. Additionally, both euploid and segmental putative mosaic embryos exhibited the best clinical results compared to whole chromosome and complex putative mosaic. Moreover, within the same PGT-A class, embryos with the lowest KIDscore™Day5 values had significantly lower clinical results.

CONCLUSIONS

The data highlight that morphology, morphokinetics, and chromosome content in trophectoderm biopsy are closely related, and the KIDscore™Day5 algorithm reflects this interplay.

摘要

目的

分析不同PGT-A类别中的形态动力学、形态学及第5天的KIDscore™,重点关注假定的嵌合水平和类型。

方法

这项单中心回顾性研究分析了2020年至2022年期间来自至少有一个假定嵌合胚胎的周期中832个经胚胎观察仪培养的囊胚。P值<0.05被认为具有统计学意义。

结果

与整倍体相比,假定的嵌合胚胎在tPNF、t2、t4、t7和t8阶段显著延迟,但在tPNF、t2、t3、t4、t5、tSC、tM、tSB和tB阶段比非整倍体显著更快。关于水平,低假定嵌合胚胎(<50%)与非整倍体相比,tSC、tM、tSB和tB阶段显著更早,而高假定嵌合胚胎的tSB和tB阶段显著更早。关于假定嵌合的类型,节段性非整倍体达到t8、tM和tB阶段的时间比复杂非整倍体显著更早。该研究还调查了第5天的KIDscore™作为PGT-A的辅助工具在胚胎选择中的有用性。从整倍体到低假定嵌合、从高假定嵌合到非整倍体以及在节段性和复杂假定嵌合之间,观察到KIDscore™第5天有显著下降。移植结果部分证实了观察到的KIDscore™第5天的差异:与低假定和高假定嵌合相比,整倍体囊胚显示出最有利的临床结果。此外,与全染色体和复杂假定嵌合相比,整倍体和节段性假定嵌合胚胎均表现出最佳临床结果。此外,在同一PGT-A类别中,KIDscore™第5天值最低的胚胎临床结果显著更低。

结论

数据突出表明滋养外胚层活检中的形态学、形态动力学和染色体含量密切相关,且KIDscore™第5天算法反映了这种相互作用。