Syndrome Name | No of Cases | Sensitivity | Specificity | Predictive Value |
---|---|---|---|---|
FAS | 3597 | 99.9 | 99.5 | 99.9 |
Trisomy 21 | 702 | 100.0 | 100.0 | 100.0 |
Fragile X | 355 | 99.4 | 99.7 | 95.7 |
Noonan | 299 | 100.0 | 100.0 | 100.0 |
Congenital CMV | 221 | 95.5 | 99.9 | 97.7 |
Trisomy 18 | 208 | 100.0 | 99.9 | 98.1 |
Turner | 123 | 95.9 | 100.0 | 99.2 |
Trisomy 13 | 93 | 95.7 | 100.0 | 100.0 |
deLange | 81 | 100.0 | 100.0 | 100.0 |
Williams | 66 | 97.0 | 100.0 | 100.0 |
Beckwith | 56 | 100.0 | 100.0 | 100.0 |
Prader-Willi | 55 | 100.0 | 100.0 | 98.2 |
Meckel | 38 | 97.4 | 100.0 | 100.0 |
Cri du chat (5p-) | 30 | 100.0 | 100.0 | 100.0 |
Zellweger | 30 | 100.0 | 100.0 | 100.0 |
Klippel-Feil | 23 | 95.7 | 100.0 | 100.0 |
SLOS | 23 | 100.0 | 100.0 | 95.8 |