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Abstract：
BACKGROUND: 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).
METHODS: 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.
RESULTS: 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.
CONCLUSIONS: 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.
METHODS: 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.
RESULTS: 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.
CONCLUSIONS: 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.
摘要：
背景：胚胎的遗传异常是大多数流产和反复胚胎植入失败的原因，因此，迫切需要一种可靠的植入前遗传筛查方法。非侵入性植入前基因检测（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。
方法：本综述使用“首选报告项目”作为诊断测试准确性（PRISMA-DTA）声明的系统综述和荟萃分析。我们搜索了PubMed,Embase,WebofScience核心合集,和CochraneLibrary截至2022年5月检索非侵入性植入前基因检测研究。根据质量评估研究-2系统的诊断准确性评估合格的研究质量。合并的受试者操作特征曲线（SROC）和SROC下面积（AUC）用于定量评估诊断性能。阈值效应，亚组分析，并采用荟萃回归分析探讨异质性的来源。Deeks漏斗图和敏感性分析用于检验荟萃分析的发表偏倚和稳定性，分别。
结果：20项研究符合纳入标准。汇集的敏感性，特异性，AUC为0.84（95%CI0.72-0.91），0.85（95%CI0.74-0.92），和0.91（95%CI0.88-0.93），分别。亚组分析表明，废培养基（SCM）亚组比SCM结合囊胚液（BF）亚组具有更高的灵敏度和更低的特异性。亚组分析显示,<100例患者的研究敏感性和特异性均高于≥100例。异质性（卡方）分析显示，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。
结论：本荟萃分析表明，特异性，植入前遗传学检测中niPGT的AUC分别为0.84、0.85和0.91。niPGT可能具有较高的检测准确性,可作为胚胎分析的替代模型.此外,通过亚组分析，我们发现BF并不能提高niPGT在胚胎中的准确性.在未来,需要大规模的研究来确定NiPGT的检测值。
方法：本综述使用“首选报告项目”作为诊断测试准确性（PRISMA-DTA）声明的系统综述和荟萃分析。我们搜索了PubMed,Embase,WebofScience核心合集,和CochraneLibrary截至2022年5月检索非侵入性植入前基因检测研究。根据质量评估研究-2系统的诊断准确性评估合格的研究质量。合并的受试者操作特征曲线（SROC）和SROC下面积（AUC）用于定量评估诊断性能。阈值效应，亚组分析，并采用荟萃回归分析探讨异质性的来源。Deeks漏斗图和敏感性分析用于检验荟萃分析的发表偏倚和稳定性，分别。
结果：20项研究符合纳入标准。汇集的敏感性，特异性，AUC为0.84（95%CI0.72-0.91），0.85（95%CI0.74-0.92），和0.91（95%CI0.88-0.93），分别。亚组分析表明，废培养基（SCM）亚组比SCM结合囊胚液（BF）亚组具有更高的灵敏度和更低的特异性。亚组分析显示,<100例患者的研究敏感性和特异性均高于≥100例。异质性（卡方）分析显示，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。
结论：本荟萃分析表明，特异性，植入前遗传学检测中niPGT的AUC分别为0.84、0.85和0.91。niPGT可能具有较高的检测准确性,可作为胚胎分析的替代模型.此外,通过亚组分析，我们发现BF并不能提高niPGT在胚胎中的准确性.在未来,需要大规模的研究来确定NiPGT的检测值。
