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胚胎植入前遗传学检测非整倍体:加拿大生育与男科协会指南。

Preimplantation genetic testing for aneuploidy: A Canadian Fertility and Andrology Society Guideline.

机构信息

Mount Sinai Hospital, Sinai Health System, Toronto, Canada; Department of Obstetrics & Gynaecology, University of Toronto, Toronto, Canada.

Mount Sinai Hospital, Sinai Health System, Toronto, Canada.

出版信息

Reprod Biomed Online. 2021 Jan;42(1):105-116. doi: 10.1016/j.rbmo.2020.10.020. Epub 2020 Nov 12.

Abstract

The objective of this guideline from the Canadian Fertility and Andrology Society is to synthesize the evidence on preimplantation genetic testing for aneuploidies (PGT-A) using trophectoderm biopsy and 24-chromosome analysis and to provide clinical recommendations using the Grading of Recommendations Assessment, Development and Evaluation (GRADE) framework. To date, randomized controlled trials have been limited to good-prognosis patients who were able to generate two or more blastocysts for biopsy. In this specific population the GRADE analysis of PGT-A shows an increase in the implantation rate and ongoing pregnancy or delivery rate per transfer. Clearly, it is difficult to generalize from this subgroup of patients to the infertility population at large. As a result, the application of PGT-A should be individualized, and patient factors such as age and ability to generate embryos will influence decision-making. Comprehensive patient counselling and informed consent are imperative before undertaking PGT-A. Potential benefits must be weighed against the costs and limitations of the technology, including the risk of embryo damage, false positives, false negatives and the detection of embryonic mosaicism. Future research is required, especially with regard to the use of PGT-A in poorer prognosis patients, and with respect to reporting outcomes per cycle start and cumulatively per retrieval.

摘要

本加拿大生育学会和男科协会指南的目的是综合使用滋养外胚层活检和 24 染色体分析进行胚胎植入前遗传学检测非整倍体(PGT-A)的证据,并使用推荐评估、制定与评价(GRADE)框架提供临床建议。迄今为止,随机对照试验仅限于能够生成两个或更多胚胎进行活检的预后良好的患者。在这一特定人群中,PGT-A 的 GRADE 分析显示,每次移植的着床率和持续妊娠或分娩率均有所提高。显然,很难将这一亚组患者的情况推广到整个不孕人群。因此,PGT-A 的应用应个体化,患者的年龄和产生胚胎的能力等因素将影响决策。在进行 PGT-A 之前,必须对患者进行全面的咨询和知情同意。在权衡胚胎损伤、假阳性、假阴性和胚胎嵌合体检测等技术的风险、成本和局限性的同时,必须权衡潜在的益处。需要开展未来的研究,特别是关于在预后较差的患者中使用 PGT-A 的研究,以及关于每个周期起始和每次取卵累计的报告结果的研究。

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