Validity and Utility of Non-Invasive Prenatal Testing for Copy Number Variations and Microdeletions: A Systematic Review.

Zaninović L, Bašković M, Ježek D, Katušić Bojanac A. J Clin Med. 2022;11(12):3350. Published 2022 Jun 10. doi:10.3390/jcm11123350. Open Access: Learn more

Tags: Review / Meta-Analysis, 2022, International, CNVs

  • 32 articles met the criteria for this systematic review of the analytical and clinical performance of NIPT for CNVs and microdeletions.
  • “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 [negative predictive values] could not be determined.”