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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