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

Table 7 Predictive efficiencies of single indication for pathogenic fetal CNV-seq results

		CNV		Total	McNemar’s χ 2	P value	Sensitivity	Specificity
		1	0	Total	McNemar’s χ 2	P value	Sensitivity	Specificity
NIPT	1	459	339	798	334.03	< 0.001	1.00 (0.99, 1.00)	0.22 (0.18, 0.26)
NIPT	0	1	96	97
Total		460	435	895
Maternal serum screening	1	188	1517	1705	1212.5	< 0.001	0.63 (0.57, 0.68)	0.37 (0.35, 0.39)
Maternal serum screening	0	111	884	995
Total		299	2401	2700
fetal ultrasound	1	532	1585	2117	991.79	< 0.001	0.69 (0.66, 0.72)	0.59 (0.57, 0.60)
fetal ultrasound	0	239	2245	2484
Total		771	3830	4601
Advanced maternal age	1	300	1207	1507	321.95	< 0.001	0.39 (0.35, 0.42)	0.68 (0.67, 0.70)
Advanced maternal age	0	471	2623	3094
Total		771	3830	4601

CNV
1-including pathogenic microdeletion/duplication, Auto A, Sex A, Auto AM, Sex AM
0-including likely pathogenic (LP-), uncertain significance (VUS-), likely benign (LB-) and benign (B-)
NIPT.
1-high risk.
0-low risk.
Maternal serum screening.
1-high risk.
0-low risk.
Fetal ultrasound.
1-abnormal ultrasound findings (grades 2–4).
0-normal or subnormal ultrasound findings (grades 0–1).
Advanced maternal age
1-Advanced maternal age (≥ 35 yrs)
0-Maternal age (< 35 yrs).

ISSN: 1471-2393