Abstract：
Valid data on prenatal cell-free DNA-based screening tests for copy number variations and microdeletions are still insufficient. We aimed to compare different methodological approaches concerning the achieved diagnostic accuracy measurements and positive predictive values. For this systematic review, we searched the Scopus and PubMed databases and backward citations for studies published between 2013 and 4 February 2022 and included articles reporting the analytical and clinical performance of cfDNA screening tests for CNVs and microdeletions. Of the 1810 articles identified, 32 met the criteria. The reported sensitivity of the applied tests ranged from 20% to 100%, the specificity from 81.62% to 100%, and the PPV from 3% to 100% for cases with diagnostic or clinical follow-up information. No confirmatory analysis was available in the majority of cases with negative screening results, and, therefore, the NPVs could not be determined. NIPT for CNVs and microdeletions should be used with caution and any developments regarding new technologies should undergo strict evaluation before their implementation into clinical practice. Indications for testing should be in correlation with the application guidelines issued by international organizations in the field of prenatal diagnostics.
摘要：
产前基于无细胞DNA的拷贝数变异和微缺失筛查测试的有效数据仍然不足。我们旨在比较有关已实现的诊断准确性测量和阳性预测值的不同方法学方法。对于这项系统审查，我们检索了Scopus和PubMed数据库和反向引文,查找了2013年至2022年2月4日发表的研究,纳入了报道了cfDNA筛查CNV和微缺失的分析和临床表现的文章.在确认的1810篇文章中，32符合标准。报告的应用测试的灵敏度范围从20%到100%，特异性从81.62%到100%，对于有诊断或临床随访信息的病例，PPV从3%提高到100%。在大多数筛查结果阴性的病例中，没有验证性分析，and,因此,无法确定NPV。应谨慎使用CNV和微缺失的NIPT，并且有关新技术的任何发展在将其应用于临床实践之前都应进行严格的评估。检测的适应症应与国际组织在产前诊断领域发布的应用指南相关。
