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Table 2 Effectiveness of NIPT screening for T21/T18/T13/SCA

From: Application of non-invasive prenatal testing to 91,280 spontaneous pregnancies and 3477 pregnancies conceived by in vitro fertilization

Characteristic

SP group

IVF group

Singleton

Twin

Singleton

Twin

NIPT result

T21

T18

T13

SCA

T21

T18

T13

SCA

T21

T18

T13

SCA

T21

T18

T13

SCA

High-risk result (n)

276

76

33

410

2

1

0

6

7

2

1

12

1

0

0

4

Diagnostic results (n)

239

54

23

240

0

1

0

1

6

1

0

8

1

0

0

2

TP (n)

213

28

5

96

0

0

0

1

4

0

0

4

1

0

0

0

FP (n)

26

26

18

144

0

1

0

0

2

1

0

4

0

0

0

2

TN (n)

89,090

89,276

89,307

–

1205

1204

1205

–

2880

2885

2886

–

559

560

560

–

FN (n)

1

0

0

0

0

0

0

0

0

0

0

0

0

0

0

0

Sensitivity (%)

99.53

100.00

100.00

–

–

–

–

–

100.00

–

–

–

100.00

–

–

–

Specificity (%)

99.97

99.97

99.98

–

100.00

99.92

100.00

–

99.93

99.97

100.00

–

100.00

100.00

100.00

–

PPV (%)

89.12

51.85

21.74

40.00

–

0.00

–

100.00

66.67

0.00

–

50.00

100.00

–

–

0.00

NPV (%)

99.99

100.00

100.00

100.00

100.00

100.00

100.00

100.00

100.00

100.00

100.00

100.00

100.00

100.00

100.00

100.00

  1. NIPT non-invasive prenatal testing, SP spontaneous pregnancy, IVF in vitro fertilization, TP true positive, FP false positive, FN false negative, TN true negative, PPV positive predictive value, NPV negative predictive value; –, no statistical analysis or calculation failure