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Preimplantation genetic screening (PGS) still in search of a clinical application: a systematic review.着床前基因筛查(PGS)仍在探寻临床应用:一项系统综述
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2
Preimplantation genetic screening for abnormal number of chromosomes (aneuploidies) in in vitro fertilisation or intracytoplasmic sperm injection.体外受精或卵胞浆内单精子注射中染色体数目异常(非整倍体)的植入前基因筛查。
Cochrane Database Syst Rev. 2006 Jan 25(1):CD005291. doi: 10.1002/14651858.CD005291.pub2.
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Impact of blastocyst biopsy and comprehensive chromosome screening technology on preimplantation genetic screening: a systematic review of randomized controlled trials.囊胚活检与综合染色体筛查技术对植入前基因筛查的影响:随机对照试验的系统评价
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Current Applications and Controversies in Preimplantation Genetic Testing for Aneuploidies (PGT-A) in In Vitro Fertilization.体外受精中胚胎植入前遗传学检测非整倍体(PGT-A)的当前应用和争议。
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Evolution and Utility of Preimplantation Genetic Testing for Monogenic Disorders in Assisted Reproduction - A Narrative Review.辅助生殖中单基因疾病植入前基因检测的演变与应用——一篇叙述性综述
J Hum Reprod Sci. 2021 Oct-Dec;14(4):329-339. doi: 10.4103/jhrs.jhrs_148_21. Epub 2021 Dec 31.
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Recent developments in genetics and medically-assisted reproduction: from research to clinical applications.遗传学与医学辅助生殖的最新进展:从研究到临床应用
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4
Pregnancy and child developmental outcomes after preimplantation genetic screening: a meta-analytic and systematic review.胚胎植入前遗传学筛查后的妊娠和儿童发育结局:一项荟萃分析和系统评价。
World J Pediatr. 2018 Dec;14(6):555-569. doi: 10.1007/s12519-018-0172-4. Epub 2018 Jul 31.
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Reproductive ageing-turning back the clock?生殖衰老——时光倒流?
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Degree of mosaicism in trophectoderm does not predict pregnancy potential: a corrected analysis of pregnancy outcomes following transfer of mosaic embryos.滋养层嵌合度不能预测妊娠潜能:校正分析后行嵌合体胚胎移植的妊娠结局
Reprod Biol Endocrinol. 2018 Jan 26;16(1):6. doi: 10.1186/s12958-018-0322-5.
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Recent developments in genetics and medically assisted reproduction: from research to clinical applications.遗传学和医学辅助生殖技术的最新进展:从研究到临床应用。
Eur J Hum Genet. 2018 Jan;26(1):12-33. doi: 10.1038/s41431-017-0016-z. Epub 2017 Dec 4.
8
Erratum: Relationship between morphology, euploidy and implantation potential of cleavage and blastocyst stage embryos.勘误:卵裂期和囊胚期胚胎的形态、整倍性与着床潜能之间的关系。
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Recurrent pregnancy loss: current perspectives.复发性流产:当前观点
Int J Womens Health. 2017 May 17;9:331-345. doi: 10.2147/IJWH.S100817. eCollection 2017.
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Relationship Between Morphology, Euploidy and Implantation Potential of Cleavage and Blastocyst Stage Embryos.卵裂期和囊胚期胚胎的形态、整倍性与着床潜能之间的关系
J Hum Reprod Sci. 2017 Jan-Mar;10(1):49-57. doi: 10.4103/0974-1208.204013.

本文引用的文献

1
Preimplantation genetic screening is alive and very well: really?植入前基因筛查现状良好:真的吗?
Fertil Steril. 2013 Nov;100(5):e36. doi: 10.1016/j.fertnstert.2013.09.019.
2
National reporting of in vitro fertilization success rates: how do we get patients useful information?体外受精成功率的全国报告:我们如何为患者提供有用信息?
Fertil Steril. 2013 Nov;100(5):1210-1. doi: 10.1016/j.fertnstert.2013.09.024. Epub 2013 Oct 5.
3
Diminished effect of maternal age on implantation after preimplantation genetic diagnosis with array comparative genomic hybridization.胚胎植入前遗传学诊断采用比较基因组杂交芯片技术后,母体年龄对胚胎着床的影响减弱。
Fertil Steril. 2013 Dec;100(6):1695-703. doi: 10.1016/j.fertnstert.2013.07.2002. Epub 2013 Sep 11.
4
Introduction: Preimplantation genetic screening is alive and very well.引言:胚胎植入前遗传学筛查仍然具有重要的应用价值。
Fertil Steril. 2013 Sep;100(3):593-4. doi: 10.1016/j.fertnstert.2013.07.1968. Epub 2013 Aug 2.
5
The status of public reporting of clinical outcomes in assisted reproductive technology.辅助生殖技术中临床结局报告的公开情况。
Fertil Steril. 2013 Sep;100(3):736-41. doi: 10.1016/j.fertnstert.2013.05.012. Epub 2013 Jun 10.
6
In vitro fertilization with single euploid blastocyst transfer: a randomized controlled trial.体外受精中单囊胚移植:一项随机对照试验。
Fertil Steril. 2013 Jul;100(1):100-7.e1. doi: 10.1016/j.fertnstert.2013.02.056. Epub 2013 Mar 30.
7
One swallow does not make a summer.
Fertil Steril. 2013 Apr;99(5):1205-6. doi: 10.1016/j.fertnstert.2013.01.115. Epub 2013 Feb 14.
8
Increased risk of preterm birth in singleton pregnancies after blastocyst versus Day 3 embryo transfer: Canadian ART Register (CARTR) analysis.囊胚培养与第 3 天胚胎移植后单胎妊娠早产风险增加:加拿大 ART 登记(CARTR)分析。
Hum Reprod. 2013 Apr;28(4):924-8. doi: 10.1093/humrep/des448. Epub 2013 Jan 24.
9
Reporting of noninferiority and equivalence randomized trials: extension of the CONSORT 2010 statement.非劣效性和等效性随机试验报告:CONSORT 2010 声明的扩展。
JAMA. 2012 Dec 26;308(24):2594-604. doi: 10.1001/jama.2012.87802.
10
Establishing equivalence or non-inferiority in clinical trials: part 20 of a series on evaluation of scientific publications.临床试验中的等效性或非劣效性的建立:评价科学出版物系列文章第 20 部分。
Dtsch Arztebl Int. 2012 Oct;109(41):674-9. doi: 10.3238/arztebl.2012.0674. Epub 2012 Oct 12.

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.

DOI:10.1186/1477-7827-12-22
PMID:24628895
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3986466/
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。