Table 2.

22q11.2 microdeletion detection by NIPS.

Reference	Sensitivity%	Specificity%	Positive Predictive Value (PPV)%	Negative Predictive Value (NPV)%
Dar et al., 2022 [26]	83.3	99.8	52.6	99.9
Lin et al., 2021 [28]	100	99.9	53.9	99.9
Bevilacqua et al., 2021 [29]	69.6 *	100 *	100 *	98 *

Design, sample acquisition, methods, and ability to detect nested 22q11.2 deletions differ for each study (see text for details). * Enriched cohort with ultrasound scan abnormalities of CHD and 6.3% prevalence of 22q11.2DS, and thus high PPV.