Chen Y, Lu L, Zhang Y, et al. Am J Med Genet A. 2022;188(5):1426-1434. doi:10.1002/ajmg.a.62657.
Tags: Clinical Experience / Clinical Utility, 2022, China, CNVs
- Retrospective study of 39,580 pregnancies with NIPT-Plus. 511 (1.3%) had screen positive results of which 87.7% (448/511) had invasive prenatal diagnosis.
- PPVs were 86.0% for T21, 79.5% for T18, and 54.5% for T13.
- PPV for CNVs was 41.7% (15.0% for CNVs <5 Mb, 25.0% for CNVs 5–10 Mb, and 50.0% for CNVs >10 Mb).