Table 1.
Comparison of clinical CNVs identified in the two groups of our ASD subjects.
| Group 1 (Retrospective cases) | Group 2 (Prospective cases) | Total | Chi squared test (Ρ - value)* | |
|---|---|---|---|---|
| N = 68 | N = 46 | N = 114 | ||
| Pathogenic CNVs and VOUS | 15/68 (22%) | 14/46 (30.4%) | 29/114 (25.4%) | 0.31 |
| Pathogenic CNVs and VOUS, likely pathogenic CNVs | 9/68 (13.2%) | 5/46 (10.9%) | 14/114 (12.3%) | 0.71 |
| Pathogenic CNVs | 3/68 (4.4%) | 4/46 (8.7%) | 7/114 (6.1%) | 0.35 |
| Deletion | 1 | 3 | 4 | — |
| Duplication | 2 | 1 | 3 | — |
| VOUS | 12/68 (17.6%) | 10/46 (21.7%) | 22/114 (19.3%) | 0.59 |
| VOUS, likely pathogenic CNVs | 6/68 (8.8%) | 1/46 (2.2%) | 7/114 (6.1%) | 0.15 |
| Deletion | 2 | 1 | 3 | — |
| Duplication | 4 | 0 | 4 | — |
| VOUS, likely benign CNVs | 3/68 (4.4%) | 2/46 (4.3%) | 5/114 (4.4%) | 0.99 |
| Deletion | 2 | 1 | 3 | |
| Duplication | 1 | 1 | 2 | |
| VOUS (no subclassification) | 3/68 (4.4%) | 7/46 (15.2%) | 10/114 (8.7%) | 0.04 |
| Deletion | 1 | 2 | 3 | — |
| Duplication | 2 | 5 | 7 | — |
| Benign | 53/68 (78%) | 32/46 (69.6%) | 85/114 (74.6%) | 0.31 |
The group 1 patients were first evaluated for the common genetic causes of ASD and all patients had normal karyotype and negative DNA tests for Fragile X syndrome and MECP2 mutations. Therefore, group 1 represented the ASD patients with the use of CMA as a second line test and group 2 represented the ASD patients with the use of CMA as the first-tier test. VOUS, Variant of uncertain clinical significance; *P-values were calculated using Chi-square test using GraphPad QuickCalcs (https://graphpad.com/quickcalcs/contingency1.cfm).