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胚胎植入前基因筛查是否应应用于常规临床实践?

Should pre-implantation genetic screening be implemented to routine clinical practice?

作者信息

Orvieto Raoul, Shuly Yulia, Brengauz Masha, Feldman Baruch

机构信息

a Infertility and IVF Unit, Department of Obstetrics and Gynecology, Chaim Sheba Medical Center (Tel Hashomer), Ramat Gan, and Sackler Faculty of Medicine, Tel Aviv University , Tel Aviv , Israel.

出版信息

Gynecol Endocrinol. 2016 Jun;32(6):506-8. doi: 10.3109/09513590.2016.1142962. Epub 2016 Feb 12.

Abstract

The utilization of trophectoderm biopsy combined with comprehensive chromosome screening (CCS) tests for embryonic aneuploidy was recently suggested to improve IVF outcome, however, not without criticisms. Since mosaicism has been reported in as high as 90% of blastocyst-stage embryos, we aimed to evaluate the accuracy of trophectoderm multiple biopsies using next-generation sequencing (NGS). Eight top quality blastocysts underwent three trophectoderm biopsies each, followed by NGS. In four blastocysts, the rest of the embryo, which included the inner cell mass, was also analyzed. Five of the 24 (20.8%) trophectoderm biopsies revealed inconclusive results, while 4 (16.6%) demonstrated embryonic mosaicism. Overall, 10 (35.7%) of the 28 (24 trophectoderms and 4 inner cell masses) biopsies revealed mosaicism or inconclusive results. Our preliminary observations contribute to the ongoing discussion on the unrestricted clinical adoption of PGS, suggesting, that until proper evaluation of its effectiveness and cost-effectiveness will be provided, PGS should be offered only under study conditions, and with appropriate informed consents.

摘要

最近有人提出,利用滋养外胚层活检联合胚胎非整倍体综合染色体筛查(CCS)测试来改善体外受精(IVF)结果,然而,这并非没有受到批评。由于据报道高达90%的囊胚期胚胎存在嵌合体现象,我们旨在使用下一代测序(NGS)评估滋养外胚层多次活检的准确性。八个优质囊胚每个都进行了三次滋养外胚层活检,随后进行NGS检测。在四个囊胚中,还对包括内细胞团在内的胚胎其余部分进行了分析。24次滋养外胚层活检中有5次(20.8%)结果不确定,4次(16.6%)显示胚胎存在嵌合体现象。总体而言,28次活检(24次滋养外胚层活检和4次内细胞团活检)中有10次(35.7%)显示存在嵌合体现象或结果不确定。我们的初步观察结果有助于正在进行的关于植入前基因筛查(PGS)无限制临床应用的讨论,表明在对其有效性和成本效益进行适当评估之前,PGS应仅在研究条件下提供,并获得适当的知情同意。

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