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Table 5 NIPT Performance for Detecting Trisomies 21, 18, 13 and Sex Chromosome Aneuploidies in ART Pregnancies

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

ART pregnancies

n = 1807

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

9

0

1798

0

100

9/9

100

1798/1798

100

9/9

100

1798/1798

     

(62.88,100.0)

(99.73, 100.0)

(62.88, 100.0)

(99.79, 100.0)

T18

2

0

1805

0

100

2/2

100

1805/1805

100

2/2

100

1805/1805

     

(19.79,100.0)

(99.73, 100.0)

(19.78, 100.0)

(99.73, 100.0)

T13

0

1

1806

0

 

99.94

1806/1807

100

1806/1806

      

(99.51, 99.98)

 

(99.99, 100.0)

SCA

7

3

1797

0

100

7/7

99.83

1797/1800

70

7/10

100

1797/1797

     

(64.57,100.0)

(99.23, 99.91)

(41.58, 98.42)

(99.99, 100.0)

  1. CI confidenceinterval, ART assisted reproductive technology, T21 trisomy 21, T18 trisomy 18, T13 trisomy 13, TP true positive, FP false positive, FN false negative, PPV positive predictive value