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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