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欧洲人类生殖与胚胎学会(ESHRE)胚胎植入前遗传学检测(PGT)联盟数据收集第十六至十八期:2013年至2015年的周期数据

ESHRE PGT Consortium data collection XVI-XVIII: cycles from 2013 to 2015.

作者信息

Coonen E, van Montfoort A, Carvalho F, Kokkali G, Moutou C, Rubio C, De Rycke M, Goossens V

机构信息

Department of Clinical Genetics, GROW School for Oncology and Developmental Biology, Maastricht University Medical Centre+, Maastricht, The Netherlands.

Department of Obstetrics & Gynaecology, GROW School for Oncology and Developmental Biology, Maastricht University Medical Centre+, Maastricht, The Netherlands.

出版信息

Hum Reprod Open. 2020 Oct 3;2020(4):hoaa043. doi: 10.1093/hropen/hoaa043. eCollection 2020.

DOI:10.1093/hropen/hoaa043
PMID:33033756
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7532546/
Abstract

STUDY QUESTION

What are the trends and developments in preimplantation genetic testing (PGT) in 2013-2015 as compared to previous years?

SUMMARY ANSWER

The main trends observed in the retrospective data collections 2013-2015, representing valuable data on PGT activity in (mainly) Europe, are the increased application of trophectoderm biopsy at the cost of cleavage stage biopsy and the continuing expansion of comprehensive testing technology in PGT for chromosomal structural rearrangements and for aneuploidies (PGT-SR and PGT-A).

WHAT IS KNOWN ALREADY

Since it was established in 1997, the ESHRE PGT Consortium has been collecting data from international PGT centres. To date, 15 data sets and an overview of the first 10 years of data collections have been published.

STUDY DESIGN SIZE DURATION

Collection of (mainly) European data by the PGT Consortium for ESHRE. The data for PGT cycles performed between 1 January 2013 and 31 December 2015 were provided by participating centres on a voluntary basis. For the collection of cycle, pregnancy and baby data, separate, pre-designed MS Excel tables were used.

PARTICIPANTS/MATERIALS SETTING METHODS: Data were submitted by 59, 60 and 59 centres respectively for 2013, 2014 and 2015 (full PGT Consortium members). Records with incomplete or inconsistent data were excluded from the calculations. Corrections, calculations, figures and tables were made by expert co-authors.

MAIN RESULTS AND THE ROLE OF CHANCE

For data collection XVI/XVII/XVIII, 59/60/59 centres reported data on 8164/9769/11 120 cycles with oocyte retrieval: 5020/6278/7155 cycles for PGT-A, 2026/2243/2661 cycles for PGT for monogenic/single gene defects, 1039/1189/1231 cycles for PGT-SR and 79/59/73 cycles for sexing for X-linked diseases. From 2013 until 2015, the uptake of biopsy at the blastocyst stage was mainly observed in cycles for PGT-A (from 23% to 36%) and PGT-SR (from 22% to 36%), alongside the increased application of comprehensive testing technology (from 66% to 75% in PGT-A and from 36% to 58% in PGT-SR).

LIMITATIONS REASONS FOR CAUTION

The findings apply to the 59/60/59 participating centres and may not represent worldwide trends in PGT. Data were collected retrospectively and no details of the follow-up on PGT pregnancies and babies born were provided.

WIDER IMPLICATIONS OF THE FINDINGS

Being the largest data collection on PGT worldwide, detailed information about ongoing developments in the field is provided.

STUDY FUNDING/COMPETING INTERESTS: The study has no external funding and all costs are covered by ESHRE. There are no competing interests declared.

TRIAL REGISTRATION NUMBER

N/A.

摘要

研究问题

与前几年相比,2013 - 2015年植入前基因检测(PGT)的趋势和发展情况如何?

总结答案

在2013 - 2015年回顾性数据收集中观察到的主要趋势,这些数据代表了(主要是)欧洲PGT活动的有价值数据,即滋养外胚层活检的应用增加,而卵裂期活检的应用减少,以及PGT中用于染色体结构重排和非整倍体检测(PGT-SR和PGT-A)的综合检测技术持续扩展。

已知信息

自1997年成立以来,欧洲人类生殖与胚胎学会(ESHRE)PGT联盟一直在收集国际PGT中心的数据。迄今为止,已发表了15个数据集以及前10年数据收集的概述。

研究设计规模持续时间

PGT联盟为ESHRE收集(主要是)欧洲数据。参与中心自愿提供了2013年1月1日至2015年12月31日期间进行的PGT周期数据。对于周期、妊娠和婴儿数据的收集,使用了单独的、预先设计的MS Excel表格。

参与者/材料设置方法:2013年、2014年和2015年分别有59个、60个和59个中心(ESHRE PGT联盟的正式成员)提交了数据。计算中排除了数据不完整或不一致的记录。由专家共同作者进行校正、计算、绘制图表。

主要结果及偶然性的作用

在第XVI/XVII/XVIII次数据收集中,59/60/59个中心报告了8164/9769/11120次取卵周期的数据:PGT-A周期为5020/6278/7155次,单基因/单基因缺陷PGT周期为2026/2243/2661次,PGT-SR周期为1039/1189/1231次,X连锁疾病性别鉴定周期为79/59/73次。从2013年到2015年,囊胚期活检的采用主要出现在PGT-A周期(从23%增至36%)和PGT-SR周期(从22%增至36%),同时综合检测技术的应用也有所增加(PGT-A中从66%增至75%,PGT-SR中从36%增至58%)。

局限性需谨慎的原因

这些发现适用于参与的59/60/59个中心,可能不代表全球PGT的趋势。数据是回顾性收集的,未提供PGT妊娠和出生婴儿随访的详细信息。

研究结果的更广泛影响

作为全球最大规模的PGT数据收集,提供了该领域当前发展的详细信息。

研究资金/利益冲突:该研究无外部资金,所有费用由ESHRE承担。未申报利益冲突。

试验注册号

无。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bd45/7532546/8bc577ffcfa7/hoaa043f6.jpg
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本文引用的文献

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Hum Reprod Open. 2020 May 29;2020(3):hoaa021. doi: 10.1093/hropen/hoaa021. eCollection 2020.
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ESHRE PGT Consortium and SIG Embryology good practice recommendations for polar body and embryo biopsy for PGT.欧洲人类生殖与胚胎学会(ESHRE)PGT联盟及胚胎学特别兴趣小组关于PGT极体和胚胎活检的良好实践建议
Hum Reprod Open. 2020 May 29;2020(3):hoaa020. doi: 10.1093/hropen/hoaa020. eCollection 2020.
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ESHRE PGT Consortium good practice recommendations for the detection of monogenic disorders.
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Medicina (Kaunas). 2025 Feb 20;61(3):367. doi: 10.3390/medicina61030367.
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Haplotyping-based preimplantation genetic testing for inherited cardiovascular disease: a multidisciplinary approach.基于单倍型分析的遗传性心血管疾病植入前基因检测:一种多学科方法。
Mol Genet Genomics. 2024 Dec 30;300(1):11. doi: 10.1007/s00438-024-02208-4.
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Preimplantation genetic testing for complex chromosomal rearrangements: clinical outcomes and potential risk factors.复杂染色体重排的植入前基因检测:临床结局及潜在风险因素
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Hum Reprod. 2015 Aug;30(8):1763-89. doi: 10.1093/humrep/dev122. Epub 2015 Jun 12.
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ESHRE PGD Consortium data collection XII: cycles from January to December 2009 with pregnancy follow-up to October 2010.欧洲人类生殖与胚胎学会(ESHRE)胚胎植入前基因诊断(PGD)联盟数据收集第十二期:2009年1月至12月的周期,随访至2010年10月的妊娠情况。
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