The predictive value of noninvasive prenatal screening for copy number variations: a cohort study and a systematic meta-analysis.

IF 3.9 3区医学 Q1 PATHOLOGY

Expert Review of Molecular Diagnostics Pub Date : 2023-07-01 Epub Date: 2023-07-07 DOI:10.1080/14737159.2023.2233415

Li Wen, Yanzhen Zhang, Jiye Gao, Wensheng Hu

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引用次数: 0

Abstract

Objective: To assess the diagnostic accuracy of noninvasive prenatal screening (NIPS) in screening for copy number variations (CNVs).

Methods: We conducted a systematic review and meta-analysis by combining our study results with those reported in other articles. We retrospectively collected the data of pregnant women with NIPS testing in the Hangzhou Women's Hospital from December 2019 to February 2022. Simultaneously, a systematic search of PubMed, EMBASE, and Web of Science was carried out to identify all relevant peer-reviewed publications. Statistical analysis was performed based on the random-effects model to determine a pooled estimate of the positive predictive value (PPV).

Results: A total of 29 studies involving 2,667 women were included for analysis. The pooled PPV of NIPS in the detection of CNVs was 32.86% (95% confidence interval [24.61-41.64]). Statistical heterogeneity was high, while no significant publication bias was found in this meta-analysis. There were insufficient data to accurately determine sensitivity and specificity, as most studies only performed confirmatory tests on high-risk women.

Conclusions: The PPV of NIPS in screening for CNVs was approximately 33%. Cautions should be kept in mind for the pretest guidance and subsequent after-test counseling when offering such genome-wide NIPS tests.

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无创产前筛查对拷贝数变异的预测价值：一项队列研究和系统荟萃分析。

目的：评价无创产前筛查（NIPS）在拷贝数变异（CNVs）筛查中的诊断准确性。方法：我们将我们的研究结果与其他文章中报道的结果相结合，进行了系统综述和荟萃分析。我们回顾性收集了2019年12月至2022年2月在杭州市妇女医院进行NIPS检测的孕妇的数据。同时，对PubMed、EMBASE和Web of Science进行了系统搜索，以确定所有相关的同行评审出版物。基于随机效应模型进行统计分析，以确定阳性预测值（PPV）的汇总估计值。结果：共纳入29项研究，涉及2667名女性进行分析。NIPS在CNVs检测中的合并PPV为32.86%（95%置信区间[24.61-4.64]）。统计异质性很高，而在这项荟萃分析中没有发现显著的发表偏倚。没有足够的数据来准确确定敏感性和特异性，因为大多数研究只对高危女性进行了验证性测试。结论：NIPS在CNVs筛查中的PPV约为33%。在提供此类全基因组NIPS测试时，应注意测试前的指导和随后的测试后咨询。

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

Expert Review of Molecular Diagnostics 医学-病理学

CiteScore

6.60

自引率

0.00%

发文量

审稿时长

1 months

期刊介绍： Expert Review of Molecular Diagnostics (ISSN 1473-7159) publishes expert reviews of the latest advancements in the field of molecular diagnostics including the detection and monitoring of the molecular causes of disease that are being translated into groundbreaking diagnostic and prognostic technologies to be used in the clinical diagnostic setting. Each issue of Expert Review of Molecular Diagnostics contains leading reviews on current and emerging topics relating to molecular diagnostics, subject to a rigorous peer review process; editorials discussing contentious issues in the field; diagnostic profiles featuring independent, expert evaluations of diagnostic tests; meeting reports of recent molecular diagnostics conferences and key paper evaluations featuring assessments of significant, recently published articles from specialists in molecular diagnostic therapy. Expert Review of Molecular Diagnostics provides the forum for reporting the critical advances being made in this ever-expanding field, as well as the major challenges ahead in their clinical implementation. The journal delivers this information in concise, at-a-glance article formats: invaluable to a time-constrained community.