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

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

  Study Platform Patients Diagnostic yield (%)
No. Phenotype
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%)
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
Agilent 4 × 180 K SNP + CGH array
9 Our study Same as above 162 Isolated CHD 7 (4.3%)
260b Syndromic CHD 47 (18.1%)
  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.
  2. aMany CNVs included were not necessary pathogenic.
  3. bTwelve patients with gross chromosomal aberrations were included.