Investigation on combined copy number variation sequencing and cytogenetic karyotyping for prenatal diagnosis

Table 8 Sensitivity and Specificity of single or multiple indications for fetal pathogenic CNV

		CNV		Total	McNemar’s χ 2	P value	Sensitivity	Specificity
		1	0	Total	McNemar’s χ 2	P value	Sensitivity	Specificity
Positive for single indication	1	746	3315	4061	3286.1	< 0.001	0.99 (0.98, 0.99)	0.10 (0.09, 0.11)
Positive for single indication	0	9	356	365
Total		755	3671	4426
Positive for two indications	1	746	3315	4061	546.15	< 0.001	0.69 (0.65, 0.72)	0.70 (0.69, 0.72)
Positive for two indications	0	9	356	365
Total		755	3671	4426
Positive for three indications	1	180	88	268	356.25	< 0.001	0.24 (0.21, 0.27)	0.98 (0.97, 0.98)
Positive for three indications	0	575	3583	4158
Total		755	3671	4426
Positive for four indications	1	15	1	16	751.01	< 0.001	0.02 (0.01, 0.03)	1.00 (1.00, 1.00)
Positive for four indications	0	740	3670	4410
Total		755	3671	4426

ISSN: 1471-2393