TABLE 6.
SNP-array results of 515 samples with abnormal NIPT results.
| Abnormality | Number | Normal | Aneuploidy | LOH | CNV | CNVa | |||
| P | LP | VOUS | LB | ||||||
| Chr21 | 105 (20.4%) | 48 (45.7%) | 52 (49.5%) | 0 (0.00%) | 5 (4.8%) | 1(1.0%) | 0 | 2 | 2 |
| Chr13 | 46 (8.9%) | 33 (71.7%) | 7 (15.2%) | 0 (0.00%) | 6 (13.0%) | 0(0.0%) | 0 | 5 | 1 |
| Chr18 | 41 (8.0%) | 16 (39.0%) | 16 (39.0%) | 1 (2.4%) | 8 (19.5%) | 2(4.9%) | 0 | 3 | 3 |
| Other autosomesb | 185 (36.1%) | 139 (75.1%) | 1 (0.5%) | 2 (1.1%) | 43 (23.2%) | 5(2.7%) | 5 | 24 | 9 |
| Sex chromosomes | 138 (26.6%) | 89 (64.5%) | 40 (29.0%) | 0 (0.00%) | 9 (6.5%) | 1(0.7%) | 1 | 3 | 4 |
| Total | 515 [100%] | 325 (63.1%) | 116 (22.5%) | 3 (0.6%) | 71 (13.8%) | 9(1.7%) | 6 | 37 | 19 |
aCNVs were classified into four groups according to interpretation: P, pathogenic; LP, likely pathogenic; VOUS, variation of uncertain significance; LB, likely benign. For cases with 2 CNVs including a pathogenic CNV and a VOUS CNV were listed in the P group.
bOther autosomes: autosomes except chr21, chr13, and chr18.