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人类胚胎的综合遗传评估:微阵列比较基因组杂交的经验应用能否通过单次新鲜囊胚转移降低多胎妊娠率?

Comprehensive genetic assessment of the human embryo: can empiric application of microarray comparative genomic hybridization reduce multiple gestation rate by single fresh blastocyst transfer?

机构信息

Reproductive Research Division, Pacific Reproductive Center, Orange County, 10 Post, Irvine, CA 92618, USA.

出版信息

Arch Gynecol Obstet. 2012 Sep;286(3):755-61. doi: 10.1007/s00404-012-2396-1. Epub 2012 Jun 8.

DOI:10.1007/s00404-012-2396-1
PMID:22678560
Abstract

PURPOSE

The unacceptable multiple gestation rate currently associated with in vitro fertilization (IVF) would be substantially alleviated if the routine practice of transferring more than one embryo were reconsidered. While transferring a single embryo is an effective method to reduce the clinical problem of multiple gestation, rigid adherence to this approach has been criticized for negatively impacting clinical pregnancy success in IVF. In general, single embryo transfer is viewed cautiously by IVF patients although greater acceptance would result from a more effective embryo selection method.

METHODS

Selection of one embryo for fresh transfer on the basis of chromosomal normalcy should achieve the dual objective of maintaining satisfactory clinical pregnancy rates and minimizing the multiple gestation problem, because embryo aneuploidy is a major contributing factor in implantation failure and miscarriage in IVF. The initial techniques for preimplantation genetic screening unfortunately lacked sufficient sensitivity and did not yield the expected results in IVF. However, newer molecular genetic methods could be incorporated with standard IVF to bring the goal of single embryo transfer within reach.

RESULTS

Aiming to make multiple embryo transfers obsolete and unnecessary, and recognizing that array comparative genomic hybridization (aCGH) will typically require an additional 12 h of laboratory time to complete, we propose adopting aCGH for mainstream use in clinical IVF practice.

CONCLUSION

As aCGH technology continues to develop and becomes increasingly available at lower cost, it may soon be considered unusual for IVF laboratories to select a single embryo for fresh transfer without regard to its chromosomal competency. In this report, we provide a rationale supporting aCGH as the preferred methodology to provide a comprehensive genetic assessment of the single embryo before fresh transfer in IVF. The logistics and cost of integrating aCGH with IVF to enable fresh embryo transfer are also discussed.

摘要

目的

如果重新考虑常规的移植多个胚胎的做法,体外受精(IVF)目前与不可接受的多胎妊娠率相关的问题将得到极大缓解。虽然移植单个胚胎是减少多胎妊娠这一临床问题的有效方法,但严格遵循这一方法已受到批评,因为它对 IVF 的临床妊娠成功产生了负面影响。一般来说,尽管通过更有效的胚胎选择方法可以提高患者的接受度,但 IVF 患者对单胚胎移植的态度仍然持谨慎态度。

方法

基于染色体正常性选择一个胚胎进行新鲜移植,应该可以实现维持满意的临床妊娠率和最小化多胎妊娠问题的双重目标,因为胚胎非整倍体是 IVF 中着床失败和流产的一个主要因素。不幸的是,最初的胚胎植入前遗传学筛查技术缺乏足够的敏感性,并未在 IVF 中取得预期的结果。然而,较新的分子遗传学方法可以与标准 IVF 结合使用,以实现单胚胎移植的目标。

结果

我们旨在使多胚胎移植成为过去式,并且认识到阵列比较基因组杂交(aCGH)通常需要额外 12 小时的实验室时间才能完成,因此我们建议将 aCGH 用于主流的临床 IVF 实践。

结论

随着 aCGH 技术的不断发展,成本不断降低,IVF 实验室在不考虑胚胎染色体能力的情况下,为新鲜移植选择单个胚胎可能很快就会被认为是不寻常的。在本报告中,我们提供了一个支持 aCGH 的基本原理,认为 aCGH 是在 IVF 中对单个胚胎进行新鲜移植之前进行全面遗传评估的首选方法。我们还讨论了将 aCGH 与 IVF 相结合以实现新鲜胚胎移植的物流和成本。

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引用本文的文献

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J Assist Reprod Genet. 2023 Oct;40(10):2297-2316. doi: 10.1007/s10815-023-02866-0. Epub 2023 Jul 22.
2
A pilot proof-of-principle study to compare fresh and vitrified cycle preimplantation genetic screening by chromosome microarray and next generation sequencing.一项通过染色体微阵列和下一代测序比较新鲜周期和玻璃化周期植入前基因筛查的初步原理验证研究。
Mol Cytogenet. 2016 Mar 21;9:25. doi: 10.1186/s13039-016-0238-8. eCollection 2016.
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Selection of euploid blastocysts for cryopreservation with array comparative genomic hybridization (aCGH) results in increased implantation rates in subsequent frozen and thawed embryo transfer cycles.
采用微阵列比较基因组杂交技术(aCGH)选择整倍体囊胚进行冷冻保存,可提高后续冻融胚胎移植周期的着床率。
Mol Cytogenet. 2013 Aug 9;6(1):32. doi: 10.1186/1755-8166-6-32.