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着床前基因筛查(PGS)仍在探寻临床应用:一项系统综述

Preimplantation genetic screening (PGS) still in search of a clinical application: a systematic review.

作者信息

Gleicher Norbert, Kushnir Vitaly A, Barad David H

机构信息

The Center for Human Reproduction (CHR), New York, USA.

出版信息

Reprod Biol Endocrinol. 2014 Mar 15;12:22. doi: 10.1186/1477-7827-12-22.

Abstract

Only a few years ago the American Society of Assisted Reproductive Medicine (ASRM), the European Society for Human Reproduction and Embryology (ESHRE) and the British Fertility Society declared preimplantation genetic screening (PGS#1) ineffective in improving in vitro fertilization (IVF) pregnancy rates and in reducing miscarriage rates. A presumably upgraded form of the procedure (PGS#2) has recently been reintroduced, and is here assessed in a systematic review. PGS#2 in comparison to PGS#1 is characterized by: (i) trophectoderm biopsy on day 5/6 embryos in place of day-3 embryo biopsy; and (ii) fluorescence in-situ hybridization (FISH) of limited chromosome numbers is replaced by techniques, allowing aneuploidy assessments of all 24 chromosome pairs. Reviewing the literature, we were unable to identify properly conducted prospective clinical trials in which IVF outcomes were assessed based on "intent to treat". Whether PGS#2 improves IVF outcomes can, therefore, not be determined. Reassessments of data, alleged to support the efficacy of PGS#2, indeed, suggest the opposite. Like with PGS#1, the introduction of PGS#2 into unrestricted IVF practice again appears premature, and threatens to repeat the PGS#1 experience, when thousands of women experienced reductions in IVF pregnancy chances, while expecting improvements. PGS#2 is an unproven and still experimental procedure, which, until evidence suggests otherwise, should only be offered under study conditions, and with appropriate informed consents.

摘要

就在几年前,美国辅助生殖医学协会(ASRM)、欧洲人类生殖与胚胎学会(ESHRE)以及英国生育协会宣布,植入前基因筛查(PGS#1)在提高体外受精(IVF)妊娠率和降低流产率方面并无效果。最近一种大概经过升级的该程序形式(PGS#2)被重新引入,本文对其进行了系统评价。与PGS#1相比,PGS#2的特点在于:(i)在第5/6天的胚胎上进行滋养外胚层活检,取代了第3天的胚胎活检;(ii)有限染色体数目的荧光原位杂交(FISH)被能对所有24对染色体进行非整倍体评估的技术所取代。回顾文献时,我们未能找到以“意向性治疗”为基础评估IVF结局的恰当开展的前瞻性临床试验。因此,无法确定PGS#2是否能改善IVF结局。对据称支持PGS#2疗效的数据进行重新评估后,结果实际上却相反。与PGS#1一样,将PGS#2引入无限制的IVF实践似乎再次为时过早,而且可能会重蹈PGS#1的覆辙,当时成千上万的女性本期望妊娠机会得到改善,结果却反而降低了。PGS#2是一种未经证实且仍处于试验阶段的程序,在有证据表明并非如此之前,应该仅在研究条件下并获得适当的知情同意后才提供。

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