ESHRE PGT Consortium good practice recommendations for the detection of structural and numerical chromosomal aberrations
ESHRE PGT Consortium good practice recommendations for the detection of structural and numerical chromosomal aberrations
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DOI：
10.1093/hropen/hoaa017
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发表时间：
2020-01-01
影响因子：
8.3
通讯作者：
De Rycke, Martine
中科院分区：
文献类型：
--
作者：
Coonen, Edith;Rubio, Carmen;De Rycke, Martine
胚胎植入前基因检测（PGT）领域正在快速发展，最佳实践建议对于诊断检测的规范和标准化至关重要。2005年和2011年出版的ESHRE关于PGD最佳实践的指南被认为已经过时，有必要制定新的论文，概述PGT良好实践的建议。本文提供了关于染色体结构重排（PGT-SR）PGT和非整倍体（PGT-A）PGT技术方面的建议，并涵盖了关于PGT-SR和PGT-A的基于阵列的比较基因组杂交（aCGH）和下一代测序（NGS）以及PGT-SR的荧光原位杂交（FISH）和单核苷酸多态性（SNP）阵列的建议，包括实验室问题，工作实践控制、预检查验证、临床前检查、风险评估和限制。此外，围绕培训和一般风险评估以及考试和考试后程序，提出了关于PGT-SR/PGT-A的一些一般性建议。本文是关于PGT良好实践建议的四篇系列论文之一。其他论文涵盖了PGT中心的组织，胚胎活检和管道以及PGT用于单基因/单基因缺陷（PGT-M）的技术方面。总之，这些论文应该有助于每个对PGT感兴趣的人开发最好的实验室和临床实践。
The field of preimplantation genetic testing (PGT) is evolving fast, and best practice advice is essential for regulation and standardisation of diagnostic testing. The previous ESHRE guidelines on best practice for PGD, published in 2005 and 2011, are considered outdated, and the development of new papers outlining recommendations for good practice in PGT was necessary. The current paper provides recommendations on the technical aspects of PGT for chromosomal structural rearrangements (PGT-SR) and PGT for aneuploidies (PGT-A) and covers recommendations on array-based comparative genomic hybridisation (aCGH) and next-generation sequencing (NGS) for PGT-SR and PGT-A and on fluorescence in situ hybridisation (FISH) and single nucleotide polymorphism (SNP) array for PGT-SR, including laboratory issues, work practice controls, pre-examination validation, preclinical work-up, risk assessment and limitations. Furthermore, some general recommendations on PGT-SR/PGT-A are formulated around training and general risk assessment, and the examination and post-examination process. This paper is one of a series of four papers on good practice recommendations on PGT. The other papers cover the organisation of a PGT centre, embryo biopsy and tubing and the technical aspects of PGT for monogenic/single-gene defects (PGT-M). Together, these papers should assist everyone interested in PGT in developing the best laboratory and clinical practice possible.