■评估非侵入性产前筛查(NIPS)在筛查拷贝数变异(CNV)中的诊断准确性。
■通过将我们的研究结果与其他文章中报道的结果相结合,我们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检测的孕妇数据。同时,系统搜索PubMed,进行了EMBASE和WebofScience,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)的合并估计。
■共纳入29项研究,涉及2,667名女性。在检测CNV时NIPS的合并PPV为32.86%(95%置信区间[24.61-41.64])。统计异质性高,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地确定敏感性和特异性,因为大多数研究只对高危女性进行验证性测试.
■在CNV的筛选中,NIPS的PPV约为33%。在提供此类全基因组NIPS测试时,应牢记测试前指导和随后的测试后咨询的注意事项。
UNASSIGNED: To assess the diagnostic accuracy of noninvasive prenatal screening (NIPS) in screening for copy number variations (CNVs).
UNASSIGNED: 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).
UNASSIGNED: 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.
UNASSIGNED: 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.