Table 2 A comparison of the positive NIPT results for SCAs compared with karyotyping in pregnant women
SCA type | NIPT positive (N) | Prenatal diagnostic validated | Incidence (%) | ||||||
|---|---|---|---|---|---|---|---|---|---|
TP (N) | FP (N) | Unverified (N) | Sensitivity (%) | Specificity (%) | PPV (%) | FPR (%) | |||
45,X | 20 | 3 | 13 | 4 | 100.00 | 99.86 | 18.75 | 0.14 | 0.033 |
47,XXX | 12 | 8 | 1 | 3 | 100.00 | 99.99 | 88.89 | 0.01 | 0.087 |
47,XXY | 8 | 5 | 2 | 1 | 100.00 | 99.98 | 71.43 | 0.02 | 0.054 |
47,XYY | 6 | 3 | 2 | 1 | 100.00 | 99.98 | 60.00 | 0.02 | 0.033 |
Overall | 46 | 19 | 18 | 9 | 100.00 | 99.80 | 51.35 | 0.20 | 0.207 |