Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield

Table 2 Clinical relevance of CNV to CHD phenotypes

	A	C	D	E	F	G	H
Isolated CHD cases
No. of cases	n = 13	n = 19	n = 26	n = 8	n = 44	n = 31	-
Non-polymorphic CNV	4 (30.8%)	1 (5.3%)	7 (26.9%)	1(12.5%)	17 (38.6%)	7 (22.6%)	-
Pathogenic CNV	0	0	1 (3.9%)	0	3 (6.8%)	2 (6.5%)	-
Pathogenic + likely pathogenic CNV	0	0	4 (15.4%)	0	5 (11.4%)	3 (9.7%)	-
All CHD cases
No. of cases	n = 84	n = 41	n = 74	n = 27	n = 75	n = 47	n = 23
Non-polymorphic CNV	34(40.5%)	6(14.6%)	25(33.8%)	12(44.4%)	31(44.3%)	14(29.8%)	4(17.4%)
Pathogenic CNV	11(13.1%)	2 (4.9%)	6 (8.1%)	4 (14.8%)	10(13.3%)	3(6.4%)	1(4.4%)
Pathogenic + likely pathogenic CNV	17(20.2%)	2 (4.9%)	13(17.6%)	4 (14.8%)	13(17.3%)	5(10.6%)	3(13.0%)

The cases of B category was too low, thus not included. The twelve patients with aneuploidy were not included for calculation.

ISSN: 1471-2164