Table 2.

Efficiency of fetal DNA clinical testing for SCAs

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

PPV positive predictive value