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人类胚胎植入前非整倍体的全基因组分析。

Genome-wide analysis of human preimplantation aneuploidy.

机构信息

Reproductive Medicine Associates of New Jersey, Morristown, New Jersey, USA.

出版信息

Semin Reprod Med. 2012 Aug;30(4):283-8. doi: 10.1055/s-0032-1313907. Epub 2012 Jun 21.

Abstract

An exciting era in preimplantation genetic diagnosis (PGD) is emerging with the adaptation and development of new high throughput genome-wide methodologies for the evaluation of aneuploidy. In fact, many promising preclinical studies and clinical trials involving comprehensive chromosome screening (CCS) have renewed clinician interest in the use of PGD for aneuploidy screening as an embryo selection tool to improve the success of in vitro fertilization (IVF). This review will provide an overview of the basic underlying features and applications of the growing number of platforms and strategies for preimplantation genome-wide analysis of aneuploidy.

摘要

植入前遗传学诊断(PGD)正迎来一个激动人心的时代,新的高通量全基因组方法的应用和发展为非整倍体评估提供了可能。事实上,许多涉及全面染色体筛查(CCS)的有前景的临床前研究和临床试验重新激发了临床医生对 PGD 作为胚胎选择工具用于非整倍体筛查以提高体外受精(IVF)成功率的兴趣。本综述将概述日益增多的用于植入前全基因组非整倍体分析的平台和策略的基本特征和应用。

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