The diagnostic accuracy of preimplantation genetic testing (PGT) in assessing the genetic status of embryos: a systematic review and meta-analysis.

IF 4.2 2区医学 Q1 ENDOCRINOLOGY & METABOLISM

Reproductive Biology and Endocrinology Pub Date : 2025-03-11 DOI:10.1186/s12958-025-01376-1

Kexin Chen, Zhixin Hu, Yuxuan Lian, Youzhen Han, Xiaoting Zhou, Yonggang Li, Lifeng Xiang, Weiqun Jiang, Mingying Li, Peng Zeng, Manqin Zhang, Xi Luo, Yongfang Xu, Haishan Zheng, Mei Tian, Mei Wang, Rui Ma, Jichun Yang, Yun Bai, Ruiyu Du, Bo Deng, Ze Wu, Yunxiu Li, Jiacong Yan

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引用次数: 0

Abstract

Background: Preimplantation genetic testing (PGT) is widely used in assisted reproduction to assess the genetic status of embryos. However, increasing evidence suggests that the trophectoderm (TE) may not fully reflect the genetic status of the inner cell mass (ICM), raising controversy about the accuracy of TE biopsy. Research in recent years has focused on cell-free DNA (cfDNA) found in blastocoel fluid (BF) and spent culture medium (SCM), as these may contain genetic information from both the TE and ICM. Therefore, further research and validation are essential to determine the reliability and clinical applicability of these diagnostic methods in PGT.

Methods: Relevant studies published between January 2000 and August 2024 were identified through PubMed and Web of Science (WOS). Risk assessment and publication bias were evaluated using QUADAS-2 and Deek's test. Diagnostic meta-analysis was performed using a bivariate model to combine sensitivity and specificity, with results visualized through forest plots and summary receiver operating characteristic (SROC) curves.

Results: Out of 6,407 initially screened records, 36 studies involving 4,230 embryos were included. TE biopsy was identified as the best method for diagnosing the genetic status of embryos (sensitivity: 0.839; specificity: 0.791, AUC: 0.878), while SCM had slightly lower accuracy (sensitivity: 0.874; specificity: 0.719, AUC: 0.869). The effectiveness of BF (AUC: 0.656) was significantly lower than that of TE biopsy and SCM. Despite this, TE biopsy has not yet achieved ideal diagnostic performance. However, TE biopsies demonstrate a high level of accuracy in diagnosing PGT-SR (AUC: 0.957). Additionally, multiple TE biopsies (AUC: 0.966) or TE biopsies combined with SCM (AUC: 0.927) can enhance the diagnostic efficiency of PGT.

Conclusion: The findings of this study suggest that TE biopsy has yet to achieve optimal diagnostic accuracy, which may result in a significant number of missed embryo diagnoses and misdiagnoses. Our results confirm that SCM has the potential to serve as a supplementary test. Employing multiple biopsies or combining TE with SCM may enhance diagnostic efficiency and yield optimal results.

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胚胎植入前基因检测（PGT）在评估胚胎遗传状态中的诊断准确性：一项系统综述和荟萃分析。

背景：胚胎植入前基因检测（PGT）在辅助生殖中被广泛用于评估胚胎的遗传状态。然而，越来越多的证据表明，营养外胚层（TE）可能不能完全反映内细胞团块（ICM）的遗传状态，这引起了对TE活检准确性的争议。近年来的研究重点是在囊胚液（BF）和废培养基（SCM）中发现的无细胞DNA (cfDNA)，因为它们可能包含来自TE和ICM的遗传信息。因此，需要进一步的研究和验证，以确定这些诊断方法在PGT中的可靠性和临床适用性。方法：通过PubMed和Web of Science （WOS）检索2000年1月至2024年8月发表的相关研究。采用QUADAS-2和Deek检验评估风险评估和发表偏倚。采用双变量模型进行诊断荟萃分析，结合敏感性和特异性，结果通过森林图和综合受试者工作特征（SROC）曲线可视化。结果：在最初筛选的6407份记录中，包括36项研究，涉及4230个胚胎。TE活检被认为是诊断胚胎遗传状况的最佳方法(敏感性：0.839；特异性：0.791,AUC: 0.878)，而SCM的准确性略低(敏感性：0.874；特异性：0.719,AUC: 0.869)。BF的有效性（AUC: 0.656）明显低于TE活检和SCM。尽管如此，TE活检尚未达到理想的诊断效果。然而，TE活检在诊断PGT-SR方面显示出很高的准确性（AUC: 0.957）。此外，多次TE活检（AUC: 0.966）或TE活检联合SCM （AUC: 0.927）可提高PGT的诊断效率。结论：本研究结果提示TE活检尚未达到最佳诊断准确性，可能导致大量漏诊和误诊。我们的结果证实，SCM有潜力作为一种补充测试。采用多次活检或结合TE与SCM可提高诊断效率和产生最佳结果。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Reproductive Biology and Endocrinology 医学-内分泌学与代谢

CiteScore

7.90

自引率

2.30%

发文量

161

审稿时长

4-8 weeks

期刊介绍： Reproductive Biology and Endocrinology publishes and disseminates high-quality results from excellent research in the reproductive sciences. The journal publishes on topics covering gametogenesis, fertilization, early embryonic development, embryo-uterus interaction, reproductive development, pregnancy, uterine biology, endocrinology of reproduction, control of reproduction, reproductive immunology, neuroendocrinology, and veterinary and human reproductive medicine, including all vertebrate species.