Clinical value for the detection of fetal chromosomal deletions/duplications by noninvasive prenatal testing in clinical practice.

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.