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通过a-CGH和NGS方法从同一胚胎获得的植入前基因筛查结果的比较。

Comparison of the results of preimplantation genetic screening obtained by a-CGH and NGS methods from the same embryos.

作者信息

Aleksandrova N, Shubina E, Ekimov A, Kodyleva T, Mukosey I, Makarova N, Kulakova E, Levkov L, Trofimov D, Sukhikh G

机构信息

a Federal State Budget Institution "Research Center for Obstetrics, Gynecology and Perinatology" Ministry of Healthcare of the Russian Federation , Russia.

出版信息

Gynecol Endocrinol. 2016 Oct;32(sup2):1-4. doi: 10.1080/09513590.2016.1232892.

DOI:10.1080/09513590.2016.1232892
PMID:27759447
Abstract

Chromosomal aneuploidies are known for being the main cause of abnormal development of embryos with normal morphology, their implantation failure and early reproductive losses in IVF treatments. Preimplantation genetic screening (PGS) allows selecting embryos with normal chromosomal content and increases IVF treatment efficiency due to higher implantation rates and less frequent early pregnancy losses. New technologies used for PGS allow making genome-wide analysis of the presence of all chromosomes in embryos. This article presents our study of evaluation of two techniques used for PGS: previously developed and used in our laboratory a-CGH assay based on Agilent technology and newly tested semi-conductive NGS technique (Torrent technology).

摘要

染色体非整倍体是体外受精(IVF)治疗中形态正常的胚胎发育异常、着床失败和早期妊娠丢失的主要原因。植入前遗传学筛查(PGS)能够选择染色体含量正常的胚胎,由于着床率更高且早期妊娠丢失频率更低,从而提高了IVF治疗效率。用于PGS的新技术能够对胚胎中所有染色体的存在情况进行全基因组分析。本文介绍了我们对用于PGS的两种技术的评估研究:此前在我们实验室开发并使用的基于安捷伦技术的a-CGH检测法,以及新测试的半导体二代测序技术(罗氏454测序技术)。

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