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本文引用的文献

1
ESHRE PGT Consortium data collection XVI-XVIII: cycles from 2013 to 2015.欧洲人类生殖与胚胎学会(ESHRE)胚胎植入前遗传学检测(PGT)联盟数据收集第十六至十八期:2013年至2015年的周期数据
Hum Reprod Open. 2020 Oct 3;2020(4):hoaa043. doi: 10.1093/hropen/hoaa043. eCollection 2020.
2
Semen Quality is Associated with Sperm Aneuploidy and DNA Fragmentation in the United Arab Emirates Population.阿联酋人群的精液质量与精子非整倍体和 DNA 碎片化有关。
Genet Test Mol Biomarkers. 2020 Apr;24(4):195-203. doi: 10.1089/gtmb.2019.0180. Epub 2020 Mar 25.
3
Trophectoderm biopsy protocols can affect clinical outcomes: time to focus on the blastocyst biopsy technique.滋养层活检方案可能会影响临床结局:是时候关注囊胚活检技术了。
Fertil Steril. 2020 May;113(5):981-989. doi: 10.1016/j.fertnstert.2019.12.034. Epub 2020 Mar 20.
4
High rates of aneuploidy, mosaicism and abnormal morphokinetic development in cases with low sperm concentration.在精子浓度低的情况下,存在较高的非整倍体率、嵌合体和异常形态动力学发育。
J Assist Reprod Genet. 2020 Mar;37(3):629-640. doi: 10.1007/s10815-019-01673-w. Epub 2020 Jan 4.
5
Interchromosomal effect in carriers of translocations and inversions assessed by preimplantation genetic testing for structural rearrangements (PGT-SR).通过结构重排的胚胎植入前遗传学检测(PGT-SR)评估易位和倒位携带者的染色体间效应。
J Assist Reprod Genet. 2019 Dec;36(12):2547-2555. doi: 10.1007/s10815-019-01593-9. Epub 2019 Nov 6.
6
Clinical benefits of preimplantation genetic testing for aneuploidy (PGT-A) for all in vitro fertilization treatment cycles.对所有体外受精治疗周期进行非整倍体植入前基因检测(PGT-A)的临床益处。
Eur J Med Genet. 2020 Feb;63(2):103731. doi: 10.1016/j.ejmg.2019.103731. Epub 2019 Jul 27.
7
Abnormal cleavage and developmental arrest of human preimplantation embryos in vitro.体外培养的人类植入前胚胎的异常分裂与发育阻滞
Eur J Med Genet. 2020 Feb;63(2):103651. doi: 10.1016/j.ejmg.2019.04.008. Epub 2019 Apr 14.
8
Evaluation of preimplantation genetic testing based on next-generation sequencing for balanced reciprocal translocation carriers.基于新一代测序的平衡相互易位携带者胚胎植入前遗传学检测的评估。
Reprod Biomed Online. 2019 May;38(5):669-675. doi: 10.1016/j.rbmo.2018.12.043. Epub 2019 Jan 8.
9
Analysis of meiotic segregation modes in biopsied blastocysts from preimplantation genetic testing cycles of reciprocal translocations.相互易位植入前基因检测周期中活检囊胚减数分裂分离模式的分析。
Mol Cytogenet. 2019 Feb 26;12:11. doi: 10.1186/s13039-019-0423-7. eCollection 2019.
10
Interaction of acrocentric chromosome involved in translocation and sex of the carrier influences the proportion of alternate segregation in autosomal reciprocal translocations.易位携带者的近端着丝粒染色体相互作用及性别影响常染色体相互易位的交替分离比例。
Hum Reprod. 2019 Feb 1;34(2):380-387. doi: 10.1093/humrep/dey367.

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.

DOI:10.3389/fgene.2021.636370
PMID:33719346
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7952972/
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。