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ESHRE PGD 联盟关于建立 PGD/植入前遗传学筛查(PGS)中心的最佳实践指南。

ESHRE PGD consortium best practice guidelines for organization of a PGD centre for PGD/preimplantation genetic screening.

机构信息

Reprogenetics LLC, Livingston, NJ 07039, USA.

出版信息

Hum Reprod. 2011 Jan;26(1):14-24. doi: 10.1093/humrep/deq229. Epub 2010 Oct 21.

Abstract

In 2005, the European Society for Human Reproduction and Embryology (ESHRE) PGD Consortium published a set of Guidelines for Best Practice PGD to give information, support and guidance to potential, existing and fledgling PGD programmes. Subsequent years have seen the introduction of new technologies as well as the evolution of current techniques. Additionally, in light of recent advice from ESHRE on how practice guidelines should be written/formulated, the Consortium believed it was timely to update the PGD guidelines. Rather than one document that covers all of PGD, the new guidelines are separated into four documents, including one relating to organization of the PGD centre and three relating to the methods used: DNA amplification, fluorescence in situ hybridization and biopsy/embryology. Here, we have updated the sections on organization of the PGD centre. One area that has continued to expand is Transport PGD, in which patients are treated at one IVF centre, whereas their gametes/embryos are tested elsewhere, at an independent PGD centre. Transport PGD/preimplantation genetic screening (PGS) has a unique set of challenges with respect to the nature of the sample and the rapid turn-around time required. PGS is currently controversial. Opinions of laboratory specialists and clinicians interested in PGD and PGS have been taken into account here. Current evidence suggests that PGS at cleavage stages is ineffective, but whether PGS at the blastocyst stage or on polar bodies might show improved delivery rates is still unclear. Thus, in this revision, PGS has been included. This document should assist everyone interested in PGD/PGS in developing the best laboratory and clinical practice possible.

摘要

2005 年,欧洲人类生殖与胚胎学会(ESHRE)PGD 联盟发布了一套最佳实践 PGD 指南,为潜在的、现有的和新兴的 PGD 项目提供信息、支持和指导。随后的几年见证了新技术的引入以及现有技术的发展。此外,鉴于 ESHRE 最近就如何编写/制定实践指南提出的建议,该联盟认为及时更新 PGD 指南是合适的。新的指南不是一份涵盖所有 PGD 的文件,而是分为四份文件,其中一份涉及 PGD 中心的组织,另外三份涉及使用的方法:DNA 扩增、荧光原位杂交和活检/胚胎学。在这里,我们更新了 PGD 中心组织部分的内容。一个持续扩大的领域是运输 PGD,在这种情况下,患者在一个试管婴儿中心接受治疗,而他们的配子/胚胎在另一个独立的 PGD 中心进行测试。运输 PGD/植入前遗传筛查(PGS)在样本性质和所需的快速周转时间方面具有独特的挑战。PGS 目前存在争议。这里考虑了对 PGD 和 PGS 感兴趣的实验室专家和临床医生的意见。目前的证据表明,在卵裂期进行 PGS 是无效的,但在囊胚期或极体期进行 PGS 是否可以提高着床率仍不清楚。因此,在这次修订中,包括了 PGS。本文件应有助于所有对 PGD/PGS 感兴趣的人制定最佳的实验室和临床实践。

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