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Table 2 Efficiency of fetal DNA clinical testing for SCAs

From: Cell-free DNA screening for sex chromosomal aneuploidies in 9985 pregnancies: Italian single experience

SCA type

NIPT positive

Karyotype validated

True positive

False positive

PPV performance % (CI95)

Unconfirmed

Total SCAs

31

22

17

5

77.3 (54.2–91.3)

9

Monosomy X

19

13

9

4

69.2 (38.9–89.6)

6

Trisomy X

4

3

3

0

100 (31–100)

1

47, XXY

6

5

4

1

80 (29.9–98.9)

1

47, XYY

2

1

1

0

100 (5.5–100)

1

  1. PPV positive predictive value