Syndrome Name | No of Cases | Sensitivity | Specificity | Predictive Value |
---|---|---|---|---|
FAS | 3597 | 99.7 | 99.5 | 99.7 |
Trisomy 21 | 702 | 100.0 | 100.0 | 100.0 |
Fragile X | 355 | 93.2 | 98.9 | 98.2 |
Noonan | 299 | 100.0 | 100.0 | 100.0 |
Congenital CMV | 221 | 94.6 | 99.7 | 98.3 |
Trisomy 18 | 208 | 100.0 | 100.0 | 99.5 |
Turner | 123 | 94.3 | 99.8 | 90.6 |
Trisomy 13 | 93 | 98.9 | 100.0 | 100.0 |
deLange | 81 | 100.0 | 100.0 | 100.0 |
Williams | 66 | 97.0 | 99.8 | 87.7 |
Beckwith | 56 | 100.0 | 100.0 | 100.0 |
Prader-Willi | 55 | 100.0 | 100.0 | 100.0 |
Meckel | 38 | 100.0 | 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 | 99.9 | 88.0 |
SLOS | 23 | 100.0 | 100.0 | 100.0 |