Gou L, Suo F, Wang Y, et al. Mol Genet Genomic Med. 2021;9(6):e1687. doi:10.1002/mgg3.1687. Open Access: Learn more
Tags: Clinical Experience / Clinical Utility, 2021, China, CNVs
- Retrospective study of 20,439 pregnancies undergoing NIPT. 60 women had NIPT results positive for deletions/duplication, of which 39 had invasive diagnostic testing and 9 were found to be true positive deletions/duplications.
- Overall PPV for deletions/duplications was 23.1%.
- Structural anomalies were identified by ultrasound in 3 cases which did not have diagnostic testing.