Reprogenetics LLC, Molecular Genetics, Livingston, NJ 07039, USA.
Hum Reprod. 2011 Jan;26(1):41-6. doi: 10.1093/humrep/deq265. Epub 2010 Oct 21.
In 2005, the European Society for Human Reproduction and Embryology (ESHRE) Preimplantation Genetic Diagnosis (PGD) Consortium published a set of Guidelines for Best Practice to give information, support and guidance to potential, existing and fledgling PGD programmes (Thornhill AR, De Die-Smulders CE, Geraedts JP, Harper JC, Harton GL, Lavery SA, Moutou C, Robinson MD, Schmutzler AG, Scriven PN et al. ESHRE PGD Consortium best practice guidelines for clinical preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS). Hum Reprod 2005;20:35-48.). The subsequent years have seen the introduction of a number of new technologies as well as the evolution of current techniques. Additionally, in light of ESHRE's recent advice on how practice guidelines should be written and formulated, the Consortium believed it was timely to revise and update the PGD guidelines. Rather than one document that covers all of PGD as in the original publication, these guidelines are separated into four new documents that apply to different aspects of a PGD programme; Organization of a PGD centre, fluorescence in situ hybridization-based testing, amplification-based testing and polar body and embryo biopsy for preimplantation genetic diagnosis/screening (PGD/PGS). Here we have updated the sections that pertain to embryology (including cryopreservation) and biopsy of embryos prior to PGD or PGS. Topics covered in this guideline include uses of embryo biopsy, laboratory issues relating to biopsy, timing of biopsy, biopsy procedure and cryopreserving biopsied embryos.
2005 年,欧洲人类生殖与胚胎学学会(ESHRE)着床前遗传学诊断(PGD)联盟发布了一套最佳实践指南,为潜在的、现有的和新兴的 PGD 项目提供信息、支持和指导(Thornhill AR、De Die-Smulders CE、Geraedts JP、Harper JC、Harton GL、Lavery SA、Moutou C、Robinson MD、Schmutzler AG、Scriven PN 等。ESHRE PGD 联盟着床前遗传诊断(PGD)和着床前遗传筛查(PGS)的最佳实践指南。Hum Reprod 2005;20:35-48.)。随后的几年里,许多新技术相继问世,同时当前技术也在不断发展。此外,鉴于 ESHRE 最近就如何编写和制定实践指南提出的建议,该联盟认为及时修订和更新 PGD 指南是适时的。这些指南不是像原始出版物那样涵盖 PGD 的所有内容,而是分为四个新文件,适用于 PGD 计划的不同方面;PGD 中心的组织、荧光原位杂交检测、基于扩增的检测以及极体和胚胎活检用于着床前遗传诊断/筛查(PGD/PGS)。在这里,我们更新了与胚胎学(包括冷冻保存)和 PGD 或 PGS 前胚胎活检相关的部分。本指南涵盖的主题包括胚胎活检的用途、活检相关的实验室问题、活检时间、活检程序和冷冻保存活检胚胎。