Reprogenetics LLC, Livingston, NJ 07039, USA.
Hum Reprod. 2011 Jan;26(1):25-32. doi: 10.1093/humrep/deq230. Epub 2010 Oct 21.
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. The subsequent years have seen the introduction of new technologies as well as evolution of current techniques. Additionally, in light of recent advice from ESHRE 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, the new guidelines are separated into four new documents that apply to different aspects of a PGD programme, i.e. organization of a PGD centre, fluorescence in situ hybridization (FISH)-based testing, amplification-based testing and polar body and embryo biopsy for PGD/preimplantation genetic screening (PGS). Here, we have updated the sections that pertain to FISH-based PGD. PGS has become a highly controversial technique. Opinions of laboratory specialists and clinicians interested in PGD and PGS have been taken into account here. Whereas some believe that PGS does not have a place in clinical medicine, others disagree; therefore, PGS has been included. This document should assist everyone interested in PGD/PGS in developing the best laboratory and clinical practice possible. Topics covered in this guideline include inclusion/exclusion criteria for FISH-based PGD testing, referrals and genetic counselling, preclinical validation of tests, FISH-based testing methods, spreading of cells for analysis, set-up of local IVF centre and transport PGD centres, quality control/ quality assurance and diagnostic confirmation of untransferred embryos.
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 计划提供信息、支持和指导。随后的几年里,新技术不断涌现,现有技术也在不断发展。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。新指南不是涵盖所有 PGD 的一份文件,而是分为四份新文件,适用于 PGD 计划的不同方面,即 PGD 中心的组织、荧光原位杂交(FISH)检测、扩增检测以及用于 PGD/植入前遗传筛查(PGS)的极体和胚胎活检。在这里,我们更新了与 FISH 为基础的 PGD 相关的部分。PGS 已成为一项极具争议的技术。本指南考虑了对 PGD 和 PGS 感兴趣的实验室专家和临床医生的意见。虽然有些人认为 PGS 在临床医学中没有一席之地,但另一些人则不同意;因此,PGS 已被包括在内。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。本指南涵盖的主题包括 FISH 为基础的 PGD 检测的纳入/排除标准、转诊和遗传咨询、检测的临床前验证、FISH 检测方法、用于分析的细胞扩散、当地 IVF 中心和 PGD 中心的设置、质量控制/质量保证以及未转移胚胎的诊断确认。