Table 2 Summary of CNV-Seq results of 1001 prenatal diagnostic samples grouped by prenatal diagnostic indications
| Â | AMA | HR-MSS | USM | Others | HR-NIPT | Mixed | Total |
|---|---|---|---|---|---|---|---|
Chromosomal aneuploidy | 10 (2.5%) | 6 (1.5%) | 5 (4.8%) | 2 (3.5%) | 12 (30%) | 1 (10%) | 36 (3.6%) |
 T21 | 6 (1.5%) | 4 (1.0%) | 4 (3.8%) | 1 (1.8%) | 4 (10.0%) | 1 (10.0%) | 20 (2.0%) |
 T18 | 2 (0.5%) | 1 (0.3%) | 0 (0.0%) | 0 (0.0%) | 1 (2.5%) | 0 (0.0%) | 4 (0.4%) |
 T13 | 0 (0.0%) | 0 (0.0%) | 1 (1.0%) | 1 (1.8%) | 0 (0.0%) | 0 (0.0%) | 2 (0.2%) |
 Sex chromosome abnormality | 2 (0.5%) | 1 (0.3%) | 0 (0.0%) | 0 (0.0%) | 7 (17.5%) | 0 (0.0%) | 10 (1.0%) |
P/LP CNVs | 10 (2.5%) | 25 (6.4%) | 9 (8.6%) | 2 (3.5%) | 7 (17.5%) | 0 (0.0%) | 53 (5.3%) |
 Microdeletion | 6 (1.5%) | 20 (5.2%) | 5 (4.8%) | 0 (0.0%) | 7 (17.5%) | 0 (0.0%) | 38 (3.8%) |
 microduplication | 4 (1.0%) | 5 (1.3%) | 4 (3.8%) | 2 (3.5%) | 0 (0.0%) | 0 (0.0%) | 15 (1.5%) |
VUS | 381 (95.0%) | 357 (92.0%) | 91 (86.7%) | 53 (93.0%) | 21 (52.5%) | 9 (90.0%) | 912 (91.2%) |
Total | 401 | 388 | 105 | 57 | 40 | 10 | 1001 |