Test | Standard z-score approach | GC correct z-score approach | Internal chromosome control based z-score approach | NIFTY test | |||||
---|---|---|---|---|---|---|---|---|---|
(Number of cases) | Sensitivity | Specificity | Sensitivity | Specificity | Sensitivity | Specificity | Sensitivity | Specificity | |
Autosome | T13 (2) | 50%(1/2) | 99.9%(900/901) | 100%(2/2) | 100%(901/901) | 100%(2/2) | 99.7%(898/901) | 100%(2/2) | 100%(901/901) |
T18 (12) | 91.7%(11/12) | 100%(891/891) | 100%(12/12) | 99.9%(890/891) | 100%(12/12) | 100%(891/891) | 100%(12/12) | 99.9%(890/891) | |
T21 (16) | 93.7%(15/16) | 100%(887/887) | 100%(16/16) | 100%(887/887) | 100%(16/16) | 100%(887/887) | 100%(16/16) | 100%(887/887) | |
Sex chromosome* | 45, X (3 45, X, 1 45,X/46,XX) | Not available | Not available | Not available | Not available | 75%(3/4) | 99.8%(897/899) | 75%(3/4) | 99.9%(898/899) |
XYY (1) | Not available | Not available | Not available | Not available | 0%(0/1) | 100%(902/902) | 100%(1/1) | 100%(902/902 | |
XXY (2) | Not available | Not available | Not available | Not available | 0% (0/2) | 100%(901/901) | 100%(2/2) | 100%(901/901) | |
Binary hypothesis | Not available | Not available | Available | Available |