Table 4 NIPT performance for detecting trisomies 21, 18, 13 and sex chromosome aneuploidies in 800 twin and 6 triplet pregnancies
Twins n = 800 | TP | FP | TN | Reported FN | Sensitivity | Specificity | PPV | NPV |
|---|---|---|---|---|---|---|---|---|
TP/(TP + FN) | TN/(TN + FP) | TP/(TP + FP) | TN/(TN + FN) | |||||
%(95% Cl) | %(95% Cl) | % (95% Cl) | % (95% Cl) | |||||
Trisomy 21 (8) | 8 | 0 | 792 | 0 | 100 8/8 | 100 792/792 | 100 8/8 | 100 792/792 |
(59.7,100.0) | (99.39, 100.0) | (59.7, 100.0) | (99.39, 100.0) | |||||
Trisomy 18 (2) | 2 | 0 | 798 | 0 | 100 2/2 | 100 798/798 | 100 2/2 | 100 798/798 |
(19.79, 100) | (99.40, 100) | (19.78, 100.0) | (99.40, 100.0) | |||||
Trisomy 13 (1) | 0 | 1 | 799 | 0 | 99.77 799/800 | 100 799/799 | ||
(99.13, 100.0) | (99.99, 100.0) | |||||||
Triplets n = 6 | ||||||||
Trisomy 21 (1) | 1 | 0 | 0 | 0 |