Clinical outcomes after the transfer of blastocysts characterized as mosaic by high resolution Next Generation Sequencing- further insights
Clinical outcomes after the transfer of blastocysts characterized as mosaic by high resolution Next Generation Sequencing- further insights
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DOI：
10.1016/j.ejmg.2019.103741
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发表时间：
2020-02-01
影响因子：
1.9
通讯作者：
Fiorentino, Francesco
中科院分区：
文献类型：
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作者：
Munne, Santiago;Spinella, Francesca;Fiorentino, Francesco
目的：确定整倍体、嵌合体和非整倍体胚胎的妊娠结局潜力。设计：回顾性研究。地点：参考遗传学实验室。患者：2654 个整倍体胚胎移植 PGT-A 周期、253 个嵌合体胚胎移植 PGT-A 周期、10 个完全异常胚胎移植 PGT-A 周期。干预：通过滋养外胚层评估囊胚(TE) 活检，然后通过阵列 CGH 或 NGS 进行 PGT-A。主要结果指标：在不同胚胎组之间以及两种 PGT-A 技术之间比较植入、流产、持续着床率 (OIR) 和核型（如果有）。结果：NGS 分类的整倍体胚胎 (85%) 的持续妊娠率 (OPR)/移植显着高于 aCGH 胚胎 (71%) (p < 0.001)，但 OPR/周期相似（63% 与 59%）。 NGS 分类的嵌合胚胎的 OPR/周期为 37%（与整倍体相比，p < 0.001）。 TE 样本中异常细胞 < 40% 的嵌合非整倍体胚胎的 OIR 为 50%，相比之下，TE 样本中异常细胞为 40-80% 的嵌合体胚胎的 OIR 为 27%，复杂嵌合体胚胎的 OIR 为 9%。所有进行核型分析的持续妊娠 (n = 29) 均为整倍体。通过 aCGH 分类为非整倍体的胚胎移植 (n = 10) 导致一次染色体异常妊娠。结论：与 aCGH 相比，NGS 分类的整倍体胚胎产生更高的 OIR，但 OPR/周期相似。与整倍体胚胎相比，NGS 分类的嵌合胚胎的足月潜力较低。如果它们确实足月，那些有核型结果的人就是整倍体。携带影响整个染色体的一致非整倍体的胚胎在移植后大多无法植入，而植入的胚胎最终导致染色体异常的活产。
Objective: To determine the pregnancy outcome potential of euploid, mosaic and aneuploid embryos.Design: Retrospective study.Setting: Reference genetics laboratories.Patient(s): 2654 PGT-A cycles with euploid characterized embryo transfers, 253 PGT-A cycles with transfer of embryos characterized as mosaic, and 10 PGT-A cycles with fully abnormal embryo transfers.Intervention(s): Blastocysts were assessed by trophectoderm (TE) biopsy followed by PGT-A via array CGH or NGS.Main outcome measure(s): Implantation, miscarriage, ongoing implantation rates (OIR), and karyotype if available, were compared between different embryo groups, and between the two PGT-A techniques.Results: The Ongoing Pregnancy Rate (OPR)/transfer was significantly higher for NGS-classified euploid embryos (85%) than for aCGH ones (71%) (p < 0.001), but the OPR/cycle was similar (63% vs 59%). NGS-classified mosaic embryos resulted in 37% OPR/cycle (p < 0.001 compared to euploid). Mosaic aneuploid embryos with < 40% abnormal cells in the TE sample had an OIR of 50% compared to 27% for mosaics with 40-80% abnormal cells in the TE, and 9% for complex mosaic embryos. All the karyotyped ongoing pregnancies (n = 29) were euploid. Transfers of embryos classified as aneuploid via aCGH (n = 10) led to one chromosomally abnormal pregnancy.Conclusion(s): NGS-classified euploid embryos yielded higher OIRs but similar OPRs/cycle compared to aCGH. NGS-classified mosaic embryos had reduced potential to reach term, compared to euploid embryos. If they did reach term, those with karyotype results available were euploid. Embryos carrying uniform aneuploidies affecting entire chromosomes were mostly unable to implant after transfer, and the one that implanted ended up in a chromosomally abnormal live birth.