Positive NIPT cases with confirmatory prenatal karyotype (n = 6238) | |||||||||||||||||||||||
Trisomy | TP (n) | FP (n) | FN (n) | Sensitivity % (95% CI) | Specificity % (95% CI) | PPV % (95% CI) | Accuracy % (95% CI) | Incidence % (95% CI) | |||||||||||||||
T21 | 54 | 1 | 0 | 100 (93.40 - 100) | 99.98 (99.91 - 100) | 98.18 (88.38 - 99.74) | 99.98 (99.91 - 100) | 0.87 (0.66 - 1.14) | |||||||||||||||
T18 | 14 | 0 | 0 | 100 (76.84 - 100) | 100 (99.94 - 100) | 100 | 100 (99.94 - 100) | 0.22 (0.12 - 0.38) | |||||||||||||||
T13 | 2 | 0 | 0 | 100 (15.81 - 100) | 100 (99.94 - 100) | 100 | 100 (99.94 - 100) | 0.03 (0.00 - 0.12) | |||||||||||||||
XO | 6 | 4 | 0 | 100 (54.07 - 100) | 99.94 (99.84 - 99.98) | 60 (36.03 - 79.98) | 99.94 (99.84 - 99.98) | 0.10 (0.04 - 0.21) | |||||||||||||||
XXX | 1 | 0 | 0 | 100 (2.5 - 100) | 100 (99.94 - 100) | 100 | 100 (99.94 - 100) | 0.02 (0.00 - 0.09) | |||||||||||||||
XXY | 4 | 0 | 0 | 100 (39.76 - 100) | 100 (99.94 - 100) | 100 (39.58 - 100) | 100 (99.94 - 100) | 0.06 (0.02 - 0.16) | |||||||||||||||
XYY | 1 | 0 | 0 | 100 (2.5 - 100) | 100 (99.94 - 100) | 100 | 100 (99.94 - 100) | 0.02 (0.00 - 0.09) | |||||||||||||||
Total | 82 | 5 | 0 | 100 (95.6 - 100) | 99.92 (99.81 - 99.97) | 94.25 (87.23 - 97.52) | 99.92 (99.81 - 99.97) | 1.31 (1.05 - 1.63) | |||||||||||||||
All positive NIPT cases (n = 6238) | |||||||||||||||||||||||
T21 | 117 | 1 | 0 | 100 (96.90 - 100) | 99.99 (99.93 - 100) | 99.15 (94.28 - 99.88) | 99.99 (99.93 - 100) | 1.50 (1.24 - 1.79) | |||||||||||||||
T18 | 29 | 0 | 0 | 100 (88.06 - 100) | 100 (99.95 - 100) | 100 | 100 (99.95 - 100) | 0.37 (0.25 - 0.54) | |||||||||||||||
T13 | 9 | 0 | 0 | 100 (66.37 - 100) | 100 (99.95 - 100) | 100 | 100 (99.95 - 100) | 0.12 (0.05 - 0.22) | |||||||||||||||
XO | 12 | 4 | 0 | 100 (73.54 - 100) | 99.95 (99.87 - 99.99) | 75 (52.97 - 88.88) | 99.95 (99.87 - 99.99) | 0.15 (0.08 - 0.27) | |||||||||||||||
XXX | 5 | 0 | 0 | 100 (47.82 - 100) | 100 (99.95 - 100) | 100 | 100 (99.95 - 100) | 0.06 (0.02 - 0.15) | |||||||||||||||
XXY | 6 | 0 | 0 | 100 (54.07 - 100) | 100 (99.95 - 100) | 100 | 100 (99.95 - 100) | 0.08 (0.03 - 0.17) | |||||||||||||||
XYY | 2 | 0 | 0 | 100 (15.81 - 100) | 100 (99.95 - 100) | 100 | 100 (99.95 - 100) | 0.03 (0.00 - 0.09) | |||||||||||||||
Total | 180 | 5 | 0 | 100 (97.97 - 100) | 99.93 (99.85 - 99.98) | 97.30 (93.75 - 98.86) | 99.94 (99.85 - 99.98) | 2.30 (1.98 - 2.66) | |||||||||||||||
Theoretical PPV Boundaries condition | Trisomy 21 (% (n)) | Trisomy 18 (% (n)) | Trisomy 13 (% (n)) | XO (% (n)) | XXX (% (n)) | XXY (% (n)) | XYY (% (n)) | Total (% (n)) | |||||||||||||||
Lower boundary | |||||||||||||||||||||||
All unconfirmed cases considered as FP | 46.15 (54/117) | 48.28 (14/29) | 22 (2/9) | 50 (6/12) | 20 (1/5) | 66.67 (4/6) | 50 (1/2) | 45.56 (82/180) | |||||||||||||||
Upper boundary | |||||||||||||||||||||||
All unconfirmed cases considered as TP | 99.15 (116/117) | 100 (29/29) | 90 (9/9) | 66.7 (8/12) | 100 (5/5) | 100 (6/6) | 100 (2/2) | 97.22 (175/180) | |||||||||||||||