Department of Prenatal Diagnosis and Screening Center, Hangzhou Women's Hospital (Hangzhou Maternity and Child Health Care Hospital), Hangzhou, Zhejiang, China.
Department of Obstetrics, Hangzhou Women's Hospital (Hangzhou Maternity and Child Health Care Hospital), Hangzhou, Zhejiang, China.
Expert Rev Mol Diagn. 2023 Jul-Dec;23(8):713-722. doi: 10.1080/14737159.2023.2233415. Epub 2023 Jul 7.
To assess the diagnostic accuracy of noninvasive prenatal screening (NIPS) in screening for copy number variations (CNVs).
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).
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.
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.
评估非侵入性产前筛查（NIPS）在筛查拷贝数变异（CNVs）中的诊断准确性。
我们通过将我们的研究结果与其他文章中的报告相结合，进行了系统评价和荟萃分析。我们回顾性地收集了 2019 年 12 月至 2022 年 2 月在杭州市妇产科医院接受 NIPS 检测的孕妇数据。同时，我们对 PubMed、EMBASE 和 Web of Science 进行了系统搜索，以确定所有相关的同行评议出版物。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。
共纳入 29 项研究，涉及 2667 名女性。NIPS 检测 CNVs 的汇总 PPV 为 32.86%（95%置信区间 [24.61-41.64]）。存在高度统计学异质性，但本荟萃分析未发现显著的发表偏倚。由于大多数研究仅对高风险女性进行了确认性测试，因此无法准确确定灵敏度和特异性的数据不足。
NIPS 筛查 CNVs 的 PPV 约为 33%。在提供此类全基因组 NIPS 检测时，应注意检测前指导和后续检测后咨询。
