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

Table 4 Summary of the diagnostic yields of CMA in clinical setting with different microarray platforms in studies of CHD from literatures

	Study	Platform	Patients		Diagnostic yield (%)
	Study	Platform	No.	Phenotype	Diagnostic yield (%)
1	Thienpont B, et al. (2007) [12]	1 Mb BAC/PAC	60	Syndromic CHD	10(16.6%)
2	Richards AA, et al. (2008) [13]	Nimblegen 385 K CGH	20	Syndromic CHD	5 (25%)
2	Richards AA, et al. (2008) [13]	Nimblegen 385 K CGH	20	Isolated CHD	0
3	Erdogan F, et al. (2008) [14]	tiling path BAC array	105	Isolated CHD	4(3.8%)
4	Breckpot J, et al. (2010) [15]	1 Mb BAC/PAC	90	Syndromic CHD	16(17.8%)
5	Goldmuntz E, et al. (2011) [16]	Affymetrix GeneChip 100 K array	58	Syndromic CHD	12(20.7%)
6	Breckpot J, et al. (2011) [17]	Affymetrix 6.0 array	46	Isolated CHD	2 (4.3%)
7	Connor JA, et al. (2013) [18]	Not specified	121	Unselected CHD	9 (7%)
8	Syrmou A, et al. (2013) [19]	Agilent 244 K CGH array	55	Syndromic CHD	29 (52.7%)^a
8	Syrmou A, et al. (2013) [19]	Agilent 4 × 180 K SNP + CGH array	55	Syndromic CHD	29 (52.7%)^a
9	Our study	Same as above	162	Isolated CHD	7 (4.3%)
9	Our study	Same as above	260^b	Syndromic CHD	47 (18.1%)

Diagnostic yield was defined as the number of patients with abnormal aberrations divided by the total number of cases tested. In patients with syndromic CHD, pathogenic chromosomal imbalances were detected in about 16%-25% of cases. But the diagnostic yield of CMA in isolated CHD cohort was poorly studied.
^aMany CNVs included were not necessary pathogenic.
^bTwelve patients with gross chromosomal aberrations were included.

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