Table 1.
The performance of four approaches for detection of fetal aneuploidy
|
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 | |||||
* We could not perform sex chromosome aneuploidy detection for one case because of the failure in gender classification.