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Table 3 NIPT performance for detecting trisomies 21, 18, 13 and sex chromosome aneuploidies: all cases

From: Performance of cell-free DNA sequencing-based non-invasive prenatal testing: experience on 36,456 singleton and multiple pregnancies

n = 36,000 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)
T21 247 2 35,410 0 100
247/247
99.99
35,410/35,412
99.20
247/249
100
35,410/35,410
      (98.47, 100.0) (99.98, 100.0) (98.10, 99.30) (99.99, 100.0)
T18 62 6 35,591 0 100
62/62
99.98
35,591/35,597
91.20
62/68
100
35,591/35,591
      (94.17, 100.0) (99.96, 100.0) (84.54, 97.86) (99.99, 100.0)
T13 27 5 35,627 0 100
27/27
99.99
35,627/35,632
84.40
27/32
100
35,627/35,627
      (87.54, 100.0) (99.97, 100.0) (83.15, 96.90) (99.99, 100.0)
SCA 117 18 35,524 0 100
117/117
99.95
35,524/35,542
86.7
117/135
100
35,524/35,524
      (96.82, 100.0) (99.92, 99.97) (81.0, 92.38) (99.99, 100.0)
All 453 31 35,175 0 100
453/453
99.91
35,175/35,206
93.6
453/484
100
35,175/35,175
      (99.19, 100.0) (99.88, 99.94) (91.44, 95.76) (99.99, 100.0)
  1. CI confidence interval, T21 trisomy 21, T18 trisomy 18, T13 trisomy 13, SCA sex chromosomal aneuploidy, TP true positive, FP false postive, FN false negative, NPV negative predictive value