Table 3 Veracity clinical Performance

NIPT result for aneuploidies (T21, T18, T13)

Number

Follow-up

Correct

Specificity

NPV

Normal

10280

10280

10280

99.98% (95% CI, 99.93–99.998%)

100% (95% CI, 99.96–100%)

NIPT result for aneuploidies (T21, T18, T13)

Number

Follow-up

Correct

Sensitivity

PPV

Trisomy 21

126

44

44

100% (95% CI, 92–100%)

100% (95% CI, 92–100%)

Trisomy 18

24

10

10

100% (95% CI, 69–100%)

100% (95% CI, 69–100%)

Trisomy 13

16

7

5

100% (95% CI, 48–100%)

71% (95% CI, 29–96%)

NIPT result for SCAs

Number

Follow-up

Correct

Specificity

NPV

Normal

6200

6200

6200

99.95% (95% CI, 99.86–99.99%)

100% (95% CI, 99.94–100%)

NIPT result for SCAs

Number

Follow-up

Correct

Sensitivity

PPV

Monosomy Χ

16

7

4

100% (95% CI, 40–100%)

57% (95% CI, 18–90%)

Trisomy X

6

2

2

–

–

47, ΧΧΥ

10

4

4

–

–

47, ΧΥΥ

3

0

–

–

–

48, ΧXYY

1

1

1

–

–