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用于单基因疾病植入前基因检测的囊胚与卵裂期胚胎活检的结果。

The outcomes of blastocyst versus cleavage stage embryo biopsy for preimplantation genetic testing for monogenic diseases.

作者信息

Marom Haham Lilach, Aizer Adva, Arad Almog, Haas Jigal, Lebovitz Oshrit, Zilberberg Eran, Nahum Ravit, Orvieto Raoul

机构信息

Department of Obstetrics and Gynecology, Chaim Sheba Medical Center, Ramat Gan, Israel.

Sackler Faculty of Medicine, Tel-Aviv University, Tel Aviv, Israel.

出版信息

Front Endocrinol (Lausanne). 2025 Apr 3;16:1518760. doi: 10.3389/fendo.2025.1518760. eCollection 2025.

DOI:10.3389/fendo.2025.1518760
PMID:40248147
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12003119/
Abstract

In recent years, the application of blastocyst biopsy in PGT has been gradually rising, mainly due to the assumed detrimental effect of blastomere biopsy on the embryo implantation potential and the widespread application of PGT for aneuploidy. In contrast to complete chromosomal testing (CCT) cycles, for which trophectoderm (TE) biopsy has become the well-established preferred method due to higher diagnostic reliability, evidences for the purpose of PGT-M are still lacking. Therefore, we conducted a retrospective cohort study including 147 PGT-M cycles with at least eight high quality embryos (HQE) suitable for biopsy at the cleavage stage, 83 and 64 in the blastocyst and cleavage stage biopsy groups, respectively. Our results showed no significant differences in implantation rates (32.8% vs. 33.6%, p=0.9), clinical pregnancy rates (CPR) per transfer (30.3% vs. 33.0%, p=0.7), as well as cumulative CPR (46.2% vs. 38.3%, p=0.4). This study is the largest so far, demonstrating that blastocyst biopsy has higher cost-effectiveness over cleavage stage biopsy in good prognosis patient population. Moreover, our data is the first to show that blastomere biopsy does not compromise the reproductive outcomes, which merits further investigation regarding its cost-effectiveness in the poor prognosis patient population, having a small number of embryos for biopsy and transfer. Further large prospective randomized studies are needed to elucidate the preferred biopsy strategy in specific patient populations in order to provide a tailored treatment that will ensure the best prognosis for each patient.

摘要

近年来,囊胚活检在植入前基因检测(PGT)中的应用逐渐增加,主要是因为卵裂球活检被认为对胚胎着床潜能有不利影响,以及PGT用于非整倍体检测的广泛应用。与完全染色体检测(CCT)周期不同,滋养外胚层(TE)活检因其更高的诊断可靠性已成为公认的首选方法,而关于PGT-M目的的证据仍然缺乏。因此,我们进行了一项回顾性队列研究,纳入了147个PGT-M周期,其中分别有83个和64个在囊胚期和卵裂期活检组,这些周期至少有8个适合在卵裂期进行活检的高质量胚胎(HQE)。我们的结果显示,着床率(32.8%对33.6%,p = 0.9)、每次移植的临床妊娠率(CPR)(30.3%对33.0%,p = 0.7)以及累积CPR(46.2%对38.3%,p = 0.4)均无显著差异。这项研究是迄今为止规模最大的,表明在预后良好的患者群体中,囊胚活检比卵裂期活检具有更高的成本效益。此外,我们的数据首次表明卵裂球活检不会影响生殖结局,这值得进一步研究其在预后不良患者群体中的成本效益,这些患者群体可供活检和移植的胚胎数量较少。需要进一步开展大型前瞻性随机研究,以阐明特定患者群体中首选的活检策略,从而提供一种个性化治疗,确保每位患者获得最佳预后。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/550a/12003119/eae238c13876/fendo-16-1518760-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/550a/12003119/eae238c13876/fendo-16-1518760-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/550a/12003119/eae238c13876/fendo-16-1518760-g001.jpg

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本文引用的文献

1
ESHRE PGT Consortium data collection XXI: PGT analyses in 2018.欧洲人类生殖与胚胎学会(ESHRE)PGT 联盟第 21 次数据收集:2018 年的 PGT 分析
Hum Reprod Open. 2023 Apr 19;2023(2):hoad010. doi: 10.1093/hropen/hoad010. eCollection 2023.
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Day 5 versus day 3 embryo biopsy for preimplantation genetic testing for monogenic/single gene defects.第 5 天胚胎活检与第 3 天胚胎活检用于单基因缺陷的胚胎植入前遗传学检测。
Cochrane Database Syst Rev. 2022 Nov 24;11(11):CD013233. doi: 10.1002/14651858.CD013233.pub2.
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Cleavage-stage versus blastocyst-stage embryo transfer in assisted reproductive technology.
卵裂期胚胎与囊胚期胚胎在辅助生殖技术中的移植。
Cochrane Database Syst Rev. 2022 May 19;5(5):CD002118. doi: 10.1002/14651858.CD002118.pub6.
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Cleavage-stage human embryo arrest, is it embryo genetic composition or others?卵裂期胚胎阻滞,是胚胎遗传组成还是其他因素?
Reprod Biol Endocrinol. 2022 Mar 17;20(1):52. doi: 10.1186/s12958-022-00925-2.
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ESHRE PGT Consortium data collection XIX-XX: PGT analyses from 2016 to 2017.欧洲人类生殖与胚胎学会胚胎植入前基因检测联盟第十九至二十次数据收集:2016年至2017年的胚胎植入前基因检测分析
Hum Reprod Open. 2021 Jul 27;2021(3):hoab024. doi: 10.1093/hropen/hoab024. eCollection 2021.
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Cleavage vs blastocyst stage embryos: how are they interrelating?卵裂期胚胎与囊胚期胚胎:它们是如何相互关联的?
Arch Gynecol Obstet. 2021 Oct;304(4):1083-1088. doi: 10.1007/s00404-021-06003-z. Epub 2021 Feb 23.
7
Fresh versus frozen embryo transfers in assisted reproduction.辅助生殖中新鲜胚胎移植与冷冻胚胎移植的比较
Cochrane Database Syst Rev. 2021 Feb 4;2(2):CD011184. doi: 10.1002/14651858.CD011184.pub3.
8
Impact of trophectoderm biopsy on obstetric and perinatal outcomes following frozen-thawed embryo transfer cycles.冻融胚胎移植周期中滋养外胚层活检对产科及围产结局的影响。
Hum Reprod. 2021 Jan 25;36(2):340-348. doi: 10.1093/humrep/deaa316.
9
Modification of late human embryo development after blastomere removal on day 3 for preimplantation genetic testing.第三天去除卵裂球后对人类胚胎发育的修饰用于植入前遗传学检测。
Syst Biol Reprod Med. 2021 Apr;67(2):121-126. doi: 10.1080/19396368.2020.1834008. Epub 2020 Nov 4.
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