植入前基因检测（PGT）在评估胚胎基因状态方面的诊断准确性：一项系统评价和荟萃分析。

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

作者信息

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

机构信息

Department of Reproductive Medicine, NHC Key Laboratory of Healthy Birth and Birth Defect Prevention in Western China, First People's Hospital of Yunnan Province, Kunming, 650500, China.

KUST-YPFPH Reproductive Medicine Joint Research Center, Kunming, Yunnan, China.

出版信息

Reprod Biol Endocrinol. 2025 Mar 11;23(1):39. doi: 10.1186/s12958-025-01376-1.

DOI:10.1186/s12958-025-01376-1

PMID:40069837

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11895315/

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.

摘要

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基因状态。然而，越来越多的证据表明，滋养外胚层（TE）可能无法完全反映内细胞团（ICM）的基因状态，这引发了关于TE活检准确性的争议。近年来的研究集中在囊胚腔液（BF）和废弃培养基（SCM）中发现的游离DNA（cfDNA），因为这些可能包含来自TE和ICM的基因信息。因此，进一步的研究和验证对于确定这些诊断方法在PGT中的可靠性和临床适用性至关重要。

方法

通过PubMed和科学网（WOS）检索2000年1月至2024年8月发表的相关研究。使用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性Meta分析，以合并敏感性和特异性，并通过森林图和汇总受试者工作特征（SROC）曲线直观呈现结果。

结果

在最初筛选的6407条记录中，纳入了36项涉及4230个胚胎的研究。TE活检被确定为诊断胚胎基因状态的最佳方法（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）显著低于TE活检和SCM。尽管如此，TE活检尚未达到理想的诊断性能。然而，TE活检在诊断PGT-SR方面显示出较高的准确性（AUC：0.957）。此外，多次TE活检（AUC：0.966）或TE活检与SCM联合使用（AUC：0.927）可以提高PGT的诊断效率。