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- Title
EP12.05: The predictive value of cell‐free DNA screening for rare autosomal trisomies and copy number variants.
- Authors
Raymond, Y.C.; Fernando, S.; Menezes, M.; Meagher, S.; Mol, B.; McLennan, A.; Scott, F.; Mizia, K.; Carey, K.; Fleming, G.; Rolnik, D.L.
- Abstract
We here investigate the positive predictive values (PPVs) of cfDNA for rare autosomal trisomies (RATs) and chromosomal copy number variants (CNVs). Results Of 7,341 cfDNA screens performed, there were 86 high-risk results for RATs and 77 for CNVs; and of these three and 13 were true-positive results, respectively. Established prenatal cell-free DNA (cfDNA) screening panels have recently been expanded to assess all 23 fetal chromosome pairs.
- Publication
Ultrasound in Obstetrics & Gynecology, 2022, Vol 60, p130
- ISSN
0960-7692
- Publication type
Article
- DOI
10.1002/uog.25366