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

Table 1 Association of CNV with isolated CHD and syndromic CHD

CNV category	Syndromic CHD cases^a				Isolated CHD cases (n = 162)	Syndromic CHD vs. Isolated CHD p Value
CNV category	Syndromic CHD cases with co-occurring DD/ID or ASD (n = 75)	Syndromic CHD cases without DD/ID and ASD(n = 173)	p Value	Total cases (n = 248)	Isolated CHD cases (n = 162)	Syndromic CHD vs. Isolated CHD p Value
Non-polymorphic CNVs	38 (50.7%)	60 (34.7%)	0.0234	98 (39.5%)	43 (26.5%)	0.0078
Pathogenic CNVs	17 (22.7%)	18 (10.4%)	0.0163	35 (14.1%)	7 (4.3%)	0.0013
Pathogenic + likely pathogenic CNVs	22 (29.3%)	29 (16.7%)	0.0275	51 (20.6%)	15 (9.3%)	0.0024

^aTwelve patients with aneuploidy were not included.
The following abbreviations were used: DD, development delay; ID, intellectual disability; ASD, autism spectrum disorder.

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