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Table 2 The performance of expanded NIPT in screening for T21, T18, T13, SCAs, RATs, and CNVs

From: Expanded noninvasive prenatal testing for fetal aneuploidy and copy number variations and parental willingness for invasive diagnosis in a cohort of 18,516 cases

Expanded NIPT result

TP

FP

TN

FN

Sensitivity

(95% CI)

Specificity

(95% CI)

PPV

(95% CI)

NPV

(95% CI)

T21

139

14

18,363

0

100%

(97.38–100%)

99.92%

(99.87–99.96%)

90.85%

(85.47–94.37%)

100.00%

T18

29

8

18,478

1

96.67%

(82.78–99.92%)

99.96%

(99.91–99.98%)

78.38%

(64.38–87.91%)

99.99%

(99.96–100%)

T13

9

22

18,485

0

100%

(66.37–100.00%)

99.88%

(99.82–99.93%)

29.03%

(21.22–38.32%)

100.00%

T21 (phenotype)

146

17

    

91.25%

 

T18 (phenotype)

34

9

    

79.07%

 

T13 (phenotype)

12

22

    

35.29%

 

SCAs

70

48

    

59.32%

 

SCAs (phenotype)

72

62

    

53.73%

 

XO

13

38

–

–

  

25.49%

 

XO (phenotype)

15

52

    

22.39%

 

XXX

9

3

    

75%

 

XXY

32

2

    

94.12%

 

XYY

16

5

    

76.19%

 

RATs

2

31

–

–

  

6.45%

 

CNVs

8

8

–

–

  

50%

 

CNVs

(< 10 M)

3

4

    

42.86%

 

CNVs

(> 10 M)

5

4

    

62.5%

 
  1. TP: true positive confirmed by genetic test, FP: false positive confirmed by genetic test, TN: true negative confirmed by clinical follow-up, FN: false negative confirmed by clinical follow-up. PPV: positive predictive value, NPV: negative predictive value. PPVs for T21, T18, T13, SCAs, and XO were confirmed based on cytogenetic test. PPVs for T21 (phenotype), T18 (phenotype), T13 (phenotype), SCAs (phenotype), and XO (phenotype) were calculated based on prenatal ultrasound detection and cytogenetic tests. Fetal demise and fetal anomalies revealed by prenatal ultrasound were considered possible T21, T18, T13, XO. T21, and T18 were excluded based on normal newborn examination
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BMC Medical Genomics

ISSN: 1755-8794

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