Table 5 Pathogenic classification of the true positive CNVs
| Index | n | Pathogenicity | Unknown/VOUS | Heredity from phenotypically normal parents |
|---|---|---|---|---|
| NIPT | 61 | 37 (60.66%) | 17 (27.86%) | 7 (11.48%) |
| NIPT-PLUS | 41 | 23 (56.10%) | 18 (43.90%) | 0 |
| Total | 102 | 60 (58.82%) | 35 (34.31%) | 7 (6.87%) |