Clinical outcome of subchromosomal events detected by whole-genome noninvasive prenatal testing
January 1, 2015
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