目标:与往年相比,2018年植入前遗传学检测(PGT)的趋势和发展如何?
结论:在PGT的第21个数据集中观察到的主要趋势是,采用全面的全基因组检测的滋养外胚层活检最常用于PGT-A和并发PGT-M/SR/A,而对于PGT-M和PGT-SR,使用PCR和FISH的单细胞测试仍然盛行。
背景:自1997年成立以来,ESHREPGT联盟一直在收集和分析主要来自欧洲PGT中心的数据。迄今为止,已经发布了20个数据集和前10年数据收集的概述。
在2018年1月1日至2018年12月31日期间进行的PGT分析数据,分析后进行2年随访,由参与中心自愿提供。数据是使用在线平台收集的,它基于基因分析,自2016年以来一直在使用。
方法:活检方法的数据,诊断技术,44个中心提交了临床结局.记录与分析一个以上的PGT单基因疾病(PGT-M)和/或PGT的染色体结构重排(PGT-SR),或者关于PGT模态的数据不一致,被排除在外。包括分析后2年内进行的所有转移,能够计算累计怀孕率。数据分析,计算,数字和表格的编制由专家合著者进行。
结果:2018年的当前数据收集涵盖了PGT-M的总共1388次分析,PGT-SR的462次分析,3003分析PGT的非整倍体(PGT-A),和338分析同时PGT-M/SR与PGT-A。PGT-M的囊胚活检的应用逐渐上升(从2016-2017年的19%到2018年的33%),是PGT-SR的现状(从2016-2017年的30%到2018年的33%),并已成为PGT-A最常用的活检阶段(从2016-2017年的87%到2018年的98%)以及与PGT-A并发的PGT-M/SR(96%)。综合运用,基于全基因组扩增(WGA)的诊断技术显示,PGT-M(从2016-2017年的15%降至2018年的12%)和PGT-SR(从2016-2017年的50%降至2018年的44%)均有小幅下降.综合测试是,然而,PGT-A的主要技术(从2016-2017年的93%到2018年的98%)。基于WGA的测试也广泛用于PGT-M/SR与PGT-A的并发测试,作为独立技术(74%)或与PCR或FISH(24%)结合使用。滋养外胚层活检和综合检测策略与更高的诊断效率和每次胚胎移植改善的临床结果相关。
结论:这些发现适用于44个参与中心提交的数据,并不代表PGT的全球趋势。本手稿未提供有关出生婴儿健康的详细信息。
结论:联盟数据集为遵循PGT实践趋势提供了宝贵的资源。
背景:这项研究没有外部资金,所有费用均由ESHRE承担。没有宣布任何竞争利益。
背景:不适用。
OBJECTIVE: What are the trends and developments in preimplantation genetic testing (PGT) in 2018 as compared to previous years?
CONCLUSIONS: The main trends observed in this 21st dataset on PGT are that the implementation of trophectoderm biopsy with comprehensive whole-genome testing is most often applied for PGT-A and concurrent PGT-M/SR/A, while for PGT-M and PGT-SR, single-cell testing with PCR and FISH still prevail.
BACKGROUND: Since it was established in 1997, the ESHRE PGT Consortium has been collecting and analysing data from mainly European PGT centres. To date, 20 datasets and an overview of the first 10 years of data collections have been published.
UNASSIGNED: The data for PGT analyses performed between 1 January 2018 and 31 December 2018 with a 2-year follow-up after analysis were provided by participating centres on a voluntary basis. Data were collected using an online platform, which is based on genetic analysis and has been in use since 2016.
METHODS: Data on biopsy method, diagnostic technology, and clinical outcome were submitted by 44 centres. Records with analyses for more than one PGT for monogenic disorders (PGT-M) and/or PGT for chromosomal structural rearrangements (PGT-SR), or with inconsistent data regarding the PGT modality, were excluded. All transfers performed within 2 years after the analysis were included, enabling the calculation of cumulative pregnancy rates. Data analysis, calculations, and preparation of figures and tables were carried out by expert co-authors.
RESULTS: The current data collection from 2018 covers a total of 1388 analyses for PGT-M, 462 analyses for PGT-SR, 3003 analyses for PGT for aneuploidies (PGT-A), and 338 analyses for concurrent PGT-M/SR with PGT-A.The application of blastocyst biopsy is gradually rising for PGT-M (from 19% in 2016-2017 to 33% in 2018), is status quo for PGT-SR (from 30% in 2016-2017 to 33% in 2018) and has become the most used biopsy stage for PGT-A (from 87% in 2016-2017 to 98% in 2018) and for concurrent PGT-M/SR with PGT-A (96%). The use of comprehensive, whole-genome amplification (WGA)-based diagnostic technology showed a small decrease for PGT-M (from 15% in 2016-2017 to 12% in 2018) and for PGT-SR (from 50% in 2016-2017 to 44% in 2018). Comprehensive testing was, however, the main technology for PGT-A (from 93% in 2016-2017 to 98% in 2018). WGA-based testing was also widely used for concurrent PGT-M/SR with PGT-A, as a standalone technique (74%) or in combination with PCR or FISH (24%). Trophectoderm biopsy and comprehensive testing strategies are linked with higher diagnostic efficiencies and improved clinical outcomes per embryo transfer.
CONCLUSIONS: The findings apply to the data submitted by 44 participating centres and do not represent worldwide trends in PGT. Details on the health of babies born were not provided in this manuscript.
CONCLUSIONS: The Consortium datasets provide a valuable resource for following trends in PGT practice.
BACKGROUND: The study has no external funding, and all costs are covered by ESHRE. There are no competing interests declared.
BACKGROUND: N/A.