Syndrome Name | No of Cases | Sensitivity | Specificity | Predictive Value |
---|---|---|---|---|
FAS | 3597 | 99.9 | 99.5 | 99.7 |
Trisomy 21 | 702 | 100.0 | 100.0 | 100.0 |
Fragile X | 355 | 99.4 | 99.7 | 94.9 |
Noonan | 299 | 99.7 | 100.0 | 99.7 |
Congenital CMV | 221 | 94.6 | 99.8 | 95.4 |
Trisomy 18 | 208 | 99.0 | 99.8 | 95.8 |
Turner | 123 | 94.3 | 100.0 | 98.3 |
Trisomy 13 | 93 | 90.3 | 100.0 | 98.8 |
deLange | 81 | 97.5 | 100.0 | 100.0 |
Williams | 66 | 97.0 | 100.0 | 98.5 |
Beckwith | 56 | 96.4 | 100.0 | 100.0 |
Prader-Willi | 55 | 100.0 | 100.0 | 98.2 |
Meckel | 38 | 94.7 | 100.0 | 100.0 |
Cri du chat (5p-) | 30 | 100.0 | 100.0 | 100.0 |
Zellweger | 30 | 86.7 | 100.0 | 100.0 |
Klippel-Feil | 23 | 95.7 | 100.0 | 100.0 |
SLOS | 23 | 69.6 | 100.0 | 100.0 |