ESHRE PGT Consortium good practice recommendations for the detection of monogenic disorders
ESHRE PGT Consortium good practice recommendations for the detection of monogenic disorders
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DOI：
10.1093/hropen/hoaa018
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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：
Carvalho, Filipa;Moutou, Celine;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，因此有必要制定新的论文，概述PGT良好实践的建议。目前的论文提供了关于PGT用于单基因/单基因缺陷（PGT-M）的技术方面的建议，并涵盖了关于PGT-M基本方法和检测策略的建议。此外，还针对特殊情况提出了一些具体建议，包括新发致病性变异、近亲配偶、HLA分型、排除试验和由DNA致病性变异引起的疾病。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染色体结构重排/非整倍体PGT的技术方面。总之，这些论文应该有助于对PGT感兴趣的科学家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 The previous ESHRE guidelines on best practice for PGD, published in 2005 and 2011, are considered outdated, and the development of new papers outlining recommendations for good practice in PGT was necessary.The current paper provides recommendations on the technical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 monogenic/single-gene defects (PGT-M) and covers recommendations on basic methods for PGT-M and testing strategies. Furthermore, some specific recommendations are formulated for special cases, including de novo pathogenic variants, consanguineous couples, HLA typing, exclusion testing and disorders caused by pathogenic variants in the mitochondrialDNA. 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 chromosomal structural rearrangements/aneuploidies. Together, these papers should assist scientists interested in PGT in developing the best laboratory and clinical practice possible.