Table 1.
Assay validation on cfDNA and paternal samples
| Description | cfDNA and biological father DNA | Confirmed invasive prenatal diagnosis | Confirmed by Sanger |
|---|---|---|---|
| Total | 2033 | ||
| Trisomy 21 | 22 | 22/22 | – |
| Trisomy 18 | 4 | 4/4 | – |
| Trisomy 13 | 1 | 1/1 | – |
| SCA | 2 | 2/2 | – |
| Microdeletion syndromes | 5 | 5/5 | – |
| Number of samples with no mutations | 1497 | 496/496a | |
| Number of samples with mutations | 536 | – | |
| Number of mutations | 613 | – | |
| Number of unique mutations | 87 | 87/87 |
aAll 496 targeted mutations were confirmed in 5 randomly selected normal (wild-type) samples