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基于快速二代测序的第三天卵裂球活检染色体异常植入前基因检测可在同一治疗周期内进行胚胎移植。

A Rapid NGS-Based Preimplantation Genetic Testing for Chromosomal Abnormalities in Day-3 Blastomere Biopsy Allows Embryo Transfer Within the Same Treatment Cycle.

作者信息

Ye Yinghui, Ma Jieliang, Cui Long, Lu Sijia, Jin Fan

机构信息

Key Laboratory of Reproductive Genetics (Ministry of Education), Department of Reproductive Endocrinology, Women's Hospital, Zhejiang University School of Medicine, Hangzhou, China.

Department of Clinical Research, Yikon Genomics Co. Ltd., Suzhou, China.

出版信息

Front Genet. 2021 Feb 26;12:636370. doi: 10.3389/fgene.2021.636370. eCollection 2021.

Abstract

Nowadays, most of the preimplantation genetic testing (PGT) is performed with a strategy of comprehensive chromosome screening and trophectoderm biopsy. Nevertheless, patients with ovarian insufficiency may not have competent blastocysts. In the present study, we aimed to establish the value of multiple annealing and looping-based amplification cycle (MALBAC)-based next-generation sequencing (NGS) for PGT in day-3 embryos. A total of 94.3% (1168/1239) of embryos yielded informative results, and the overall embryo euploid rate was 21.9% (256/1168). Overall, 225 embryos were transferred in 169 cycles with a clinical pregnancy rate of 49.1% (83/169). The live birth and implantation rates were 47.3% (80/169) and 44.4% (100/225), respectively. Double embryos transfer showed higher clinical pregnancy and live birth rates compared with single embryo transfer, but the implantation rates were similar (44.2% vs. 44.6%, > 0.05). The euploid rate for reciprocal translocations (16.1%) was significantly lower than that for Robertsonian translocations (28.0%, < 0.01) and inversions (28.0%, < 0.01). However, higher percentages of embryos with abnormalities were observed with Robertsonian translocations (23.3%, < 0.01) and inversions (30.5%, < 0.01) than with reciprocal translocations (11.6%). We demonstrated that NGS for PGT on day-3 embryos is an effective clinical application, particularly for patients with a diminished ovarian reserve and limited embryos.

摘要

如今,大多数植入前基因检测(PGT)采用的是全面染色体筛查和滋养外胚层活检策略。然而,卵巢功能不全的患者可能没有合格的囊胚。在本研究中,我们旨在确定基于多次退火环状循环扩增(MALBAC)的二代测序(NGS)技术对第三天胚胎进行PGT的价值。总共94.3%(1168/1239)的胚胎获得了有效结果,胚胎整体整倍体率为21.9%(256/1168)。总体而言,在169个周期中移植了225个胚胎,临床妊娠率为49.1%(83/169)。活产率和着床率分别为47.3%(80/169)和44.4%(100/225)。与单胚胎移植相比,双胚胎移植的临床妊娠率和活产率更高,但着床率相似(44.2%对44.6%,>0.05)。相互易位的整倍体率(16.1%)显著低于罗伯逊易位(28.0%,<0.01)和倒位(28.0%,<0.01)。然而,罗伯逊易位(23.3%,<0.01)和倒位(30.5%,<0.01)的胚胎异常比例高于相互易位(11.6%)。我们证明,对第三天胚胎进行PGT的NGS技术是一种有效的临床应用,尤其适用于卵巢储备功能减退且胚胎数量有限的患者。

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