Zaninović Luca, Bašković Marko, Ježek Davor, Katušić Bojanac Ana
Scientific Centre of Excellence for Reproductive and Regenerative Medicine, School of Medicine, University of Zagreb, Šalata 3, 10 000 Zagreb, Croatia.
Children's Hospital Zagreb, Ulica Vjekoslava Klaića 16, 10 000 Zagreb, Croatia.
J Clin Med. 2022 Jun 10;11(12):3350. doi: 10.3390/jcm11123350.
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.
关于基于无细胞DNA的产前拷贝数变异和微缺失筛查检测的有效数据仍然不足。我们旨在比较不同方法在诊断准确性测量和阳性预测值方面的差异。对于这项系统评价，我们检索了Scopus和PubMed数据库以及2013年至2022年2月4日发表的研究的参考文献，并纳入了报告cfDNA筛查检测对CNV和微缺失的分析和临床性能的文章。在1810篇被识别的文章中，32篇符合标准。对于有诊断或临床随访信息的病例，所应用检测报告的灵敏度范围为20%至100%，特异性为81.62%至100%，阳性预测值为3%至100%。在大多数筛查结果为阴性的病例中，没有可用的验证性分析，因此无法确定阴性预测值。用于CNV和微缺失的无创产前检测应谨慎使用，任何关于新技术的进展在应用于临床实践之前都应经过严格评估。检测指征应与产前诊断领域国际组织发布的应用指南相关。
