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本文引用的文献

1
The "mosaic" embryo: misconceptions and misinterpretations in preimplantation genetic testing for aneuploidy.“镶嵌型”胚胎:非整倍体植入前基因检测中的误解与误读
Fertil Steril. 2021 Nov;116(5):1205-1211. doi: 10.1016/j.fertnstert.2021.06.027. Epub 2021 Jul 23.
2
Preimplantation genetic testing for aneuploidy: A review of published blastocyst reanalysis concordance data.胚胎植入前遗传学检测非整倍体:已发表的囊胚重分析一致性数据综述。
Prenat Diagn. 2021 Apr;41(5):545-553. doi: 10.1002/pd.5828. Epub 2020 Oct 4.
3
ESHRE PGT Consortium good practice recommendations for the detection of structural and numerical chromosomal aberrations.欧洲人类生殖与胚胎学会植入前遗传学检测联盟关于结构和数目染色体畸变检测的良好实践建议。
Hum Reprod Open. 2020 May 29;2020(3):hoaa017. doi: 10.1093/hropen/hoaa017. eCollection 2020.
4
Incidence, Origin, and Predictive Model for the Detection and Clinical Management of Segmental Aneuploidies in Human Embryos.胚胎片段非整倍体的检测、临床管理及发生率、起源和预测模型。
Am J Hum Genet. 2020 Apr 2;106(4):525-534. doi: 10.1016/j.ajhg.2020.03.005. Epub 2020 Mar 26.
5
PGT-A preimplantation genetic testing for aneuploidies and embryo selection in routine ART cycles: Time to step back?PGT-A 用于常规 ART 周期中的非整倍体胚胎检测和胚胎选择:是否应该退后一步?
Clin Genet. 2020 Aug;98(2):107-115. doi: 10.1111/cge.13732. Epub 2020 Apr 6.
6
Preimplantation genetic testing for aneuploidy: a comparison of live birth rates in patients with recurrent pregnancy loss due to embryonic aneuploidy or recurrent implantation failure.胚胎植入前遗传学检测非整倍体:胚胎非整倍体性复发性流产或反复着床失败患者活产率的比较。
Hum Reprod. 2019 Dec 1;34(12):2340-2348. doi: 10.1093/humrep/dez229.
7
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.
8
Single best euploid versus single best unknown-ploidy blastocyst frozen embryo transfers: a randomized controlled trial.单枚最佳整倍体胚胎与单枚最佳非整倍体囊胚冻融胚胎移植:一项随机对照试验。
J Assist Reprod Genet. 2019 Apr;36(4):629-636. doi: 10.1007/s10815-018-01399-1. Epub 2019 Jan 7.
9
To test or not to test? A framework for counselling patients on preimplantation genetic testing for aneuploidy (PGT-A).是否进行检测?胚胎植入前遗传学检测非整倍体(PGT-A)咨询的框架。
Hum Reprod. 2019 Feb 1;34(2):268-275. doi: 10.1093/humrep/dey346.
10
The cytogenetic constitution of human blastocysts: insights from comprehensive chromosome screening strategies.人类囊胚的细胞遗传学构成:全面染色体筛查策略的启示。
Hum Reprod Update. 2019 Jan 1;25(1):15-33. doi: 10.1093/humupd/dmy036.

植入前遗传学检测非整倍体(PGT-A)对高危患者临床结局的影响。

The impact of preimplantation genetic testing for aneuploidies (PGT-A) on clinical outcomes in high risk patients.

机构信息

Genesis Genoma Lab, Genetic Diagnosis, Clinical Genetics and Research, Athens, Greece.

Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, Athens, Greece.

出版信息

J Assist Reprod Genet. 2022 Jun;39(6):1341-1349. doi: 10.1007/s10815-022-02461-9. Epub 2022 Mar 25.

DOI:10.1007/s10815-022-02461-9
PMID:35338417
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9174385/
Abstract

PURPOSE

To investigate whether preimplantation genetic testing for aneuploidy (PGT-A) improves the clinical outcome in patients with advanced maternal age (AMA), recurrent miscarriages (RM), and recurrent implantation failure (RIF).

METHODS

Retrospective cohort study from a single IVF center and a single genetics laboratory. One hundred seventy-six patients undergoing PGT-A were assigned to three groups: an AMA group, an RM group, and a RIF group. Two hundred seventy-nine patients that did not undergo PGT-A were used as controls and subgrouped similarly to the PGT-A cohort. For the PGT-A groups, trophectoderm biopsy was performed and array comparative genomic hybridization was used for PGT-A. Clinical outcomes were compared with the control groups.

RESULTS

In the RM group, we observed a significant decrease of early pregnancy loss rates in the PGT-A group (18.1% vs 75%) and a significant increase in live birth rate per transfer (50% vs 12.5%) and live birth rate per patient (36% vs 12.5%). In the RIF group, a statistically significant increase in the implantation rate per transfer (69.5% vs 33.3%) as well as the live birth rate per embryo transfer (47.8% vs 19%) was observed. In the AMA group, a statistically significant reduction in biochemical pregnancy loss was observed (3.7% vs 31.5%); however, live birth rates per embryo transfer and per patient were not significantly higher than the control group.

CONCLUSION

Our results agree with recently published studies, which suggest caution in the universal application of PGT-A in women with infertility. Instead, a more personalized approach by choosing the right candidates for PGT-A intervention should be followed.

摘要

目的

研究胚胎植入前遗传学检测(PGT-A)是否能改善高龄产妇(AMA)、反复性流产(RM)和反复着床失败(RIF)患者的临床结局。

方法

这是一项来自单个 IVF 中心和单个遗传学实验室的回顾性队列研究。将 176 例行 PGT-A 的患者分为 AMA 组、RM 组和 RIF 组。279 例未行 PGT-A 的患者作为对照组,并按与 PGT-A 组类似的方式进行亚组分析。对于 PGT-A 组,进行滋养外胚层活检,并进行 PGT-A 阵列比较基因组杂交。将临床结局与对照组进行比较。

结果

在 RM 组中,PGT-A 组的早期妊娠丢失率显著降低(18.1%比 75%),每个移植周期的活产率显著升高(50%比 12.5%),每个患者的活产率显著升高(36%比 12.5%)。在 RIF 组中,每个移植周期的种植率显著升高(69.5%比 33.3%),每个胚胎移植的活产率也显著升高(47.8%比 19%)。在 AMA 组中,生化妊娠丢失率显著降低(3.7%比 31.5%);然而,每个胚胎移植和每个患者的活产率并不明显高于对照组。

结论

我们的研究结果与最近发表的研究一致,这些研究表明在不孕症患者中普遍应用 PGT-A 时应谨慎。相反,应该采用更个性化的方法,选择合适的 PGT-A 干预候选者。