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基于下一代测序的胚胎滋养外胚层活检非整倍体植入前遗传学检测(PGT-A)在复发性种植失败(RIF)患者中的应用:一项回顾性研究。

Next-Generation Sequencing (NGS)-Based Preimplantation Genetic Testing for Aneuploidy (PGT-A) of Trophectoderm Biopsy for Recurrent Implantation Failure (RIF) Patients: a Retrospective Study.

机构信息

Center for Reproductive Medicine, Ren Ji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, 200135, China.

Shanghai Key Laboratory for Assisted Reproduction and Reproductive Genetics, Shanghai, 200135, China.

出版信息

Reprod Sci. 2021 Jul;28(7):1923-1929. doi: 10.1007/s43032-021-00519-0. Epub 2021 Mar 11.

Abstract

Recurrent implantation failure (RIF) is an intrigue condition during in vitro fertilization (IVF) cycles or intracytoplasmic sperm injection (ICSI) treatments. The purpose of this retrospective study is to explore the value of next-generation sequencing (NGS)-based preimplantation genetic testing for aneuploidy (PGT-A) of trophectoderm biopsy in the clinical outcomes for RIF patients with advanced age. A total of 265 RIF patients, who underwent 346 oocyte retrieval cycles and 250 PGT-A cycles, were classified as two groups according to the female age, including < 38 and ≥ 38 years old groups. The two groups were statistically comparable in baseline characteristics. The component of aneuploid embryos was significantly higher in advanced age group than in younger age group (68.9 vs 39.9%, P < 0.001). But there were no statistically significant differences in pregnancy rate (43.5 vs 64.7%), clinical pregnancy rate (39.1 vs 48.0%), implantation rate (39.1 vs 51.0%), and miscarriage rate (4.3 vs 7.8%) per embryo transfer (ET) between the two groups. Results suggest that the embryo-related factor plays a crucial role in RIF. Maternal age does not influence the implantation potential of euploid blastocysts. The NGS-based PGT-A involving trophectoderm biopsy is valuable for RIF patients of advanced age by improving their clinical outcomes. In conclusion, the NGS-based PGT-A involving trophectoderm biopsy may represent a valuable supplement to the current RIF management. Nonetheless, these findings should be further validated in a well-designed randomized controlled trial.

摘要

反复着床失败(RIF)是体外受精(IVF)或卵胞浆内单精子注射(ICSI)治疗过程中的一种复杂情况。本回顾性研究的目的是探讨基于下一代测序(NGS)的胚胎植入前遗传学检测非整倍体(PGT-A)对高龄 RIF 患者的临床结局的价值。共有 265 名 RIF 患者,他们接受了 346 次卵母细胞采集周期和 250 次 PGT-A 周期,根据女性年龄分为<38 岁和≥38 岁两组。两组在基线特征方面具有统计学可比性。高龄组的非整倍体胚胎比例明显高于年轻组(68.9% vs 39.9%,P<0.001)。但两组间胚胎移植(ET)的妊娠率(43.5% vs 64.7%)、临床妊娠率(39.1% vs 48.0%)、着床率(39.1% vs 51.0%)和流产率(4.3% vs 7.8%)均无统计学差异。结果表明胚胎相关因素在 RIF 中起关键作用。母体年龄不影响整倍体囊胚的着床潜能。基于 NGS 的滋养外胚层活检 PGT-A 对高龄 RIF 患者有价值,可以改善其临床结局。总之,基于 NGS 的滋养外胚层活检 PGT-A 可能是目前 RIF 管理的一个有价值的补充。然而,这些发现需要在精心设计的随机对照试验中进一步验证。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/70cb/8189974/1e4065da0797/43032_2021_519_Fig1_HTML.jpg

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