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A multicenter, prospective, blinded, nonselection study evaluating the predictive value of an aneuploid diagnosis using a targeted next-generation sequencing-based preimplantation genetic testing for aneuploidy assay and impact of biopsy.一项多中心、前瞻性、盲法、非选择性研究，评估了使用靶向下一代测序的胚胎植入前遗传学检测非整倍体分析进行非整倍体诊断的预测价值以及活检的影响。
Fertil Steril. 2021 Mar;115(3):627-637. doi: 10.1016/j.fertnstert.2020.07.052. Epub 2020 Aug 28.
2
Number of embryos for transfer following in vitro fertilisation or intra-cytoplasmic sperm injection.体外受精或卵胞浆内单精子注射后移植的胚胎数量。
Cochrane Database Syst Rev. 2020 Aug 21;8(8):CD003416. doi: 10.1002/14651858.CD003416.pub5.
3
Impact of elective frozen vs. fresh embryo transfer strategies on cumulative live birth: Do deleterious effects still exist in normal & hyper responders?选择性冷冻与新鲜胚胎移植策略对累积活产率的影响：在正常和高反应者中是否仍存在有害影响？
PLoS One. 2020 Jun 26;15(6):e0234481. doi: 10.1371/journal.pone.0234481. eCollection 2020.
4
The 2019 PGDIS position statement on transfer of mosaic embryos within a context of new information on PGT-A.2019 年 PGDIS 关于在 PGT-A 新信息背景下转移嵌合体胚胎的立场声明。
Reprod Biol Endocrinol. 2020 May 29;18(1):57. doi: 10.1186/s12958-020-00616-w.
5
The reproducibility of trophectoderm biopsies in euploid, aneuploid, and mosaic embryos using independently verified next-generation sequencing (NGS): a pilot study.使用经独立验证的下一代测序（NGS）技术对整倍体、非整倍体和嵌合体胚胎的滋养层活检进行重复性评估：一项初步研究。
J Assist Reprod Genet. 2020 Mar;37(3):559-571. doi: 10.1007/s10815-020-01720-x. Epub 2020 Feb 28.
6
Preimplantation genetic testing for aneuploidy (PGT-A)-finally revealed.植入前非整倍体基因检测（PGT-A）——最终揭示。
J Assist Reprod Genet. 2020 Mar;37(3):669-672. doi: 10.1007/s10815-020-01705-w. Epub 2020 Feb 2.
7
Preimplantation genetic testing for aneuploidy: It's déjà vu all over again!植入前非整倍体基因检测：似曾相识！
Fertil Steril. 2019 Dec;112(6):1046-1047. doi: 10.1016/j.fertnstert.2019.08.102.
8
Day 5 versus Day 6 blastocyst transfers: a systematic review and meta-analysis of clinical outcomes.第5天与第6天囊胚移植：临床结局的系统评价和荟萃分析
Hum Reprod. 2019 Oct 2;34(10):1948-1964. doi: 10.1093/humrep/dez163.
9
Preimplantation genetic testing for aneuploidy versus morphology as selection criteria for single frozen-thawed embryo transfer in good-prognosis patients: a multicenter randomized clinical trial.胚胎植入前遗传学检测非整倍体与形态学作为选择标准用于预后良好患者的单个冻融胚胎移植：一项多中心随机临床试验。
Fertil Steril. 2019 Dec;112(6):1071-1079.e7. doi: 10.1016/j.fertnstert.2019.07.1346. Epub 2019 Sep 21.
10
PGDIS Position Statement on the Transfer of Mosaic Embryos 2019.PGDIS关于镶嵌胚胎移植的立场声明（2019年）
Reprod Biomed Online. 2019 Aug;39 Suppl 1:e1-e4. doi: 10.1016/j.rbmo.2019.06.012.

PGT-A：谁和何时？随机对照试验的系统评价和网络荟萃分析。

PGT-A: who and when? Α systematic review and network meta-analysis of RCTs.

机构信息

Department of Physiology, Medical School, National and Kapodistrian University of Athens, 75, Mikras Asias, 11527, Athens, Greece.

Assisted Conception Unit, 2nd Department of Obstetrics and Gynecology, Aretaieion Hospital, Medical School, National and Kapodistrian University of Athens, 76, Vasilissis Sofias Avenue, 11528, Athens, Greece.

出版信息

J Assist Reprod Genet. 2021 Aug;38(8):1939-1957. doi: 10.1007/s10815-021-02227-9. Epub 2021 May 25.

DOI:10.1007/s10815-021-02227-9
PMID:34036455
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8417193/
Abstract

PURPOSE

Wide controversy is still ongoing regarding efficiency of preimplantation genetic testing for aneuploidy (PGT-A). This systematic review and meta-analysis, aims to identify the patient age group that benefits from PGT-A and the best day to biopsy.

METHODS

A systematic search of the literature was performed on MEDLINE/PubMed, Embase and Cochrane Central Library up to May 2020. Eleven randomized controlled trials employing PGT-A with comprehensive chromosomal screening (CCS) on Day-3 or Day-5 were eligible.

RESULTS

PGT-A did not improve live-birth rates (LBR) per patient in the general population (RR:1.11; 95%CI:0.87-1.42; n=1513; I=75%). However, PGT-A lowered miscarriage rate in the general population (RR:0.45; 95%CI:0.25-0.80; n=912; I=49%). Interestingly, the cumulative LBR per patient was improved by PGT-A (RR:1.36; 95%CI:1.13-1.64; n=580; I=12%). When performing an age-subgroup analysis PGT-A improved LBR in women over the age of 35 (RR:1.29; 95%CI:1.05-1.60; n=692; I=0%), whereas it appeared to be ineffective in younger women (RR:0.92; 95%CI:0.62-1.39; n=666; I=75%). Regarding optimal timing, only day-5 biopsy practice presented with improved LBR per ET (RR: 1.37; 95% CI: 1.03-1.82; I=72%).

CONCLUSION

PGT-A did not improve clinical outcomes for the general population, however PGT-A improved live-birth rates strictly when performed on blastocyst stage embryos of women over the 35-year-old mark.

摘要

目的

胚胎植入前遗传学检测非整倍体（PGT-A）的效率仍存在广泛争议。本系统评价和荟萃分析旨在确定从 PGT-A 中受益的患者年龄组以及活检的最佳日期。

方法

对 MEDLINE/PubMed、Embase 和 Cochrane 中央图书馆进行了系统的文献检索，检索时间截至 2020 年 5 月。纳入了 11 项采用 PGT-A 联合全面染色体筛查（CCS）在第 3 天或第 5 天进行的随机对照试验。

结果

PGT-A 并未提高一般人群的活产率（RR：1.11；95%CI：0.87-1.42；n=1513；I=75%）。然而，PGT-A 降低了一般人群的流产率（RR：0.45；95%CI：0.25-0.80；n=912；I=49%）。有趣的是，PGT-A 提高了每位患者的累积活产率（RR：1.36；95%CI：1.13-1.64；n=580；I=12%）。当进行年龄亚组分析时，PGT-A 提高了年龄超过 35 岁的女性的活产率（RR：1.29；95%CI：1.05-1.60；n=692；I=0%），而在年轻女性中似乎无效（RR：0.92；95%CI：0.62-1.39；n=666；I=75%）。关于最佳时机，只有第 5 天活检的胚胎移植（ET）活产率提高（RR：1.37；95%CI：1.03-1.82；I=72%）。

结论

PGT-A 并未改善一般人群的临床结局，但在年龄超过 35 岁的女性的囊胚阶段胚胎上进行 PGT-A 时，可严格提高活产率。