Department of Reproductive Medicine, The Second Affiliated Hospital of Fujian Medical University, Quanzhou, Fujian Province, China.
Centre of Neurological and Metabolic Research, The Second Affiliated Hospital of Fujian Medical University, Quanzhou, Fujian Province, China.
J Assist Reprod Genet. 2023 Jun;40(6):1243-1253. doi: 10.1007/s10815-023-02760-9. Epub 2023 Mar 23.
Genetic abnormalities in embryos are responsible for most miscarriages and repeated embryo implantation failures, so a reliable preimplantation genetic screening method is urgently needed. Non-invasive preimplantation genetic testing (niPGT) is a potential method for embryo genetic diagnosis. However, the value of its application is controversial. This meta-analysis aimed to investigate and validate the diagnostic value of niPGT in patients undergoing in vitro fertilization (IVF).
This review used the "Preferred Reporting Items" as a systematic review and meta-analysis of the diagnostic test accuracy (PRISMA-DTA) statement. We searched PubMed, Embase, Web of Science Core Collection, and Cochrane Library up to May 2022 to retrieve non-invasive preimplantation gene detection studies. The eligible research quality was evaluated following the quality assessment study-2 system for diagnostic accuracy. The pooled receiver operator characteristic curve (SROC) and the area under SROC (AUC) were used to evaluate diagnostic performance quantitatively. Threshold effect, subgroup analysis, and meta-regression analysis were used to explore the source of heterogeneity. Deeks' funnel plots and sensitivity analyses were used to test the publication bias and stability of the meta-analysis, respectively.
Twenty studies met the inclusion criteria. The pooled sensitivity, specificity, and AUC were 0.84 (95% CI 0.72-0.91), 0.85 (95% CI 0.74-0.92), and 0.91 (95% CI 0.88-0.93), respectively. Subgroup analysis showed that the spent culture medium (SCM) subgroup had higher sensitivity and lower specificity than the SCM combined with the blastocoel fluid (BF) subgroup. Subgroup analysis showed that the study sensitivity and specificity of < 100 cases were higher than those of ≥ 100. Heterogeneity (chi-square) analysis revealed that sample size might be a potential source of heterogeneity. Sensitivity analysis and Deeks' funnel plots indicated that our results were relatively robust and free from publication bias.
The present meta-analysis indicated that the pooled sensitivity, specificity, and AUC of niPGT in preimplantation genetic testing were 0.84, 0.85, and 0.91, respectively. niPGT may have high detection accuracy and may serve as an alternative model for embryonic analysis. Additionally, by subgroup analysis, we found that BF did not improve the accuracy of niPGT in embryos. In the future, large-scale studies are needed to determine the detection value of niPGT.
胚胎中的遗传异常是导致大多数流产和反复胚胎着床失败的原因，因此迫切需要一种可靠的胚胎植入前遗传学筛查方法。非侵入性胚胎植入前基因检测（niPGT）是一种潜在的胚胎基因诊断方法。然而，其应用的价值存在争议。本荟萃分析旨在探讨和验证 niPGT 在体外受精（IVF）患者中的诊断价值。
本综述采用“首选报告项目”作为系统评价和诊断测试准确性的荟萃分析（PRISMA-DTA）声明。我们检索了 PubMed、Embase、Web of Science 核心合集和 Cochrane 图书馆，截至 2022 年 5 月，以检索非侵入性胚胎基因检测研究。根据诊断准确性研究-2 系统评估合格研究的质量。使用汇总受试者工作特征曲线（SROC）和 SROC 下面积（AUC）定量评估诊断性能。阈值效应、亚组分析和荟萃回归分析用于探索异质性的来源。Deeks 漏斗图和敏感性分析分别用于测试荟萃分析的发表偏倚和稳定性。
有 20 项研究符合纳入标准。汇总的敏感性、特异性和 AUC 分别为 0.84（95%置信区间 0.72-0.91）、0.85（95%置信区间 0.74-0.92）和 0.91（95%置信区间 0.88-0.93）。亚组分析显示，培养上清液（SCM）亚组的敏感性高于 SCM 与囊胚腔液（BF）亚组，特异性低于后者。亚组分析显示，病例数<100 的研究敏感性和特异性高于病例数≥100 的研究。异质性（卡方）分析表明，样本量可能是异质性的潜在来源。敏感性分析和 Deeks 漏斗图表明，我们的结果相对稳健，没有发表偏倚。
本荟萃分析表明，niPGT 在胚胎植入前遗传学检测中的汇总敏感性、特异性和 AUC 分别为 0.84、0.85 和 0.91。niPGT 可能具有较高的检测准确性，可能成为胚胎分析的替代模型。此外，通过亚组分析，我们发现 BF 并未提高 niPGT 在胚胎中的准确性。未来需要进行大规模研究来确定 niPGT 的检测价值。
