Noninvasive single-cell-based prenatal genetic testing: A proof of concept clinical study.

Michelle BellairElisabete AmaralMason OurenCameron RoarkJaeweon KimApril O'ConnorAdrianna SorianoMargaret L SchindlerRonald J Wapner Joanne L StoneNicola TavellaAudrey MerriamLauren PerleyAmy M Breman Arthur L Beaudet

Published in: Prenatal diagnosis (2024)

Although the sample size is modest and statistically accurate measures of test performance are not possible, the Luna test detected aneuploidy and deletions/duplications based on concordance with CVS/amniocentesis.

Keyphrases

single cell
pregnant women
rna seq
high resolution
high throughput
double blind