Table 1.
The outcomes of the cases with a positive cfDNA test result for rare autosomal trisomies.
| Predicted Rare Autosomal Aneuploidy | ∑ n | True Positives n | CPM n | False Positives n | FP/CPM? * n |
|---|---|---|---|---|---|
| Trisomy 7 | 8 | 1 | 1 | 1 | 5 |
| Trisomy 16 | 7 | 1 | 2 | 0 | 4 |
| Trisomy 22 | 6 | 1 | 1 | 1 | 3 |
| Trisomy 3 | 4 | 1 | 0 | 1 | 2 |
| Trisomy 10 | 3 | 1 | 1 | 0 | 1 |
| Trisomy 15 | 3 | 1 | 0 | 0 | 2 |
| Trisomy 4 | 2 | 0 | 1 | 1 | 0 |
| Trisomy 20 | 2 | 0 | 2 | 0 | 0 |
| Trisomy 8 | 2 | 0 | 0 | 0 | 2 |
| Trisomy 9 | 1 | 0 | 1 | 0 | 0 |
| Trisomy 12 | 1 | 1 | 0 | 0 | 0 |
| Monosomy 7 | 1 | 0 | 0 | 0 | 1 |
| Total (%) | 40 | 7 (17.5%) | 9 (22.5%) | 4 (10%) | 20 (50%) |
* FP/CPM? This group includes cases in which CPM could not be excluded because the placental tissue was not available.