Publication

Clinical outcome of subchromosomal events detected by whole-genome noninvasive prenatal testing

J. Helgeson, J. Wardrop, T. Boomer, E. Almasri, W. B. Paxton, J. S. Saldivar, N. Dharajiya, T. J. Monroe, D. H. Farkas, D. S. Grosu, and R. M. McCullough
Clinical experience study with microdeletions • Positive predictive value (PPV) of microdeletions ranged from 60-100% • PPV for 22q11.2 deletion = 96.9-100% • False positive rate was 0.0017% • False negative rate and sensitivity could not be conclusively determined with this study