Performance of a Paired-End Sequencing-Based Noninvasive Prenatal Screening Test in the Detection of Genome-Wide Fetal Chromosomal Anomalies.

Pertile MD, Flowers N, Vavrek D, et al. Clin Chem. 2021;67(9):1210-1219. doi:10.1093/clinchem/hvab067. Open Access: Learn more

Tags: Laboratory Experience / Laboratory Performance, 2021, Australia, RAAs, CNVs

  • Study of GW-NIPT in 2335 frozen plasma samples to detect GW chromosomal anomalies including common trisomies, SCAs, RAAs, and partial deletions and duplications.
  • “Genome-wide screening analysis including known mosaics correctly classified 27/28 RAAs and 20/27 partial deletions/duplications with a specificity of 99.80% for both anomalies, and an overall genome-wide specificity for all anomalies of 99.34%.”
  • ”With an overall genome-wide clinical specificity for any anomaly of 99.34%, this genome-wide screen allows for detection of a broad range of chromosomal anomalies while retaining a clinical specificity far superior to the ~5% false-positive rate of serum screening.”