Table 3 Diagnostic yield of CMA in studies of syndromic CHD from different countries or ethnicities
From: Copy number variant analysis for syndromic congenital heart disease in the Chinese population
No | Country or ethnicity | Year | Ranging size | Platform | Criteria for pathogenic/likely pathogenic or causal CNVs | Diagnostic yield of CMA | CHD (top 3)* | Extracardiac malformations (top 3) |
|---|---|---|---|---|---|---|---|---|
1 [6] | Belgium | 2007 | 0.15–14 Mb | 1 Mb BAC/PAC clone set | meet any of the following criteria: 1. contain genes known to cause CHD or another dominant monogenic disease through a dosage effect 2. other individuals with the same CNV and phenotype 3. de novo 4. over 20 affected genes | 10/60 (16.6%) | E (40%), A (20%), D (20%) | Craniofacial defects (60.0%), neurodevelopmental disorders (50.0%), genitourinary defects (20.0%) |
2 [11] | 12 European-Americans, 7 Hispanics, and 1 Asian | 2008 | 0.07–14.1 Mb | Nimblegen 385 K CGH | absent in DGV; contain known or hypothetical genes | 5/20 (25%) | A (40%), E (40%), D (20%) | Neurodevelopmental disorders (100%), genitourinary defects (20%), limbs defects (20%) |
3 [8] | Belgium | 2010 | 0.22–45.09 Mb | 1 Mb BAC/PAC clone set | meet any of the following criteria: 1. previously reported in DECIPHER, ECARUCA, CHDWiki, or OMIM 2. CNV causes a mutation in a gene known to cause an autosomal recessive disorder similar to the patient’s phenotype and both alleles are mutated | 16/90 (17.8%) | A (56.3%), H (18.8%), C (12.5%) | Craniofacial defects (93.8%), neurodevelopmental disorders (81.3%), limbs defects (62.5%) |
4 [15] | Caucasian | 2011 | 0.23–9.6 Mb | Affymetrix GeneChip 100 K array | absent in large control datasets; contain recognized genes | 12/58 (20.7%) | A (66.7%), F (16.7%), H (16.7%) | Craniofacial defects (75%), limbs defects (50%), musculoskeletal disorders (50%) |
5 [16] | 104 Hispanic/Latino Americans and 99 non-Hispanic patients of European descent | 2012 | 0.05–36 Mb | Agilent customized 105 K CGH array |  > 50 kb; had DGV overlap of ≤ 75%; contained at least one known gene and absent in the controls | 70/203 (34.5%) | not specified | Not specified |
6 [7] | Greece | 2013 | 0.08–19.01 Mb | Agilent 244 K CGH array or Agilent 4 × 180 K SNP + CGH array | contain significant candidate genes relating to CHD | 37/55 (67.3%) | A (62.2%), H (18.9%), B (16.2%) | Neurodevelopmental disorders (70.3%), other ECMs not specified |
7 [9] | America | 2014 | Not specified | Agilent 244 K CGH array or Agilent 4 × 180 K SNP + CGH array | ACMG standards and guideline | 47/260 (18.1%) | not specified | Not specified |
8 [12] | Brazil | 2017 | 0.60–17.4 Mb | Agilent Human Genome G3 SurePrint 8 × 60 K microarray or Affymetrix CytoScan HD chip |  ≥ 300 kb; relevant CNVs searched in DGV, DECIPHER, and OMIM | 8/78 (10.3%) | F (62.5%), H (25.0%), B (12.5%) | Craniofacial defects (100%), Neurodevelopmental disorders (87.5%), musculoskeletal disorders (62.5%) |
9 [14] | Brazil | 2017 | Not specified | multiplex ligation-dependent probe amplification(MLPA) or Affymetrix CytoScan 750Â K array | described in DECIPHER database or in PubMed | 12/47 (25.5%) | A (58.3%), D (33.3%), C (8.3%) | Craniofacial defects (75%), neurodevelopmental disorders (66.7%), genitourinary defects (8.3%) |
10 [13] | Saudi Arabia | 2018 | 0.01–11,530 Mb | Agilent array-CGH 2 × 400 K or Agilent CGH/SNP 2 × 400 K microarray | reported in public database and literatures being associated with known disease and likely to be clinically significant | 15/73 (20.5%) | not specified | Not specified |
11 [10] | Hungary | 2019 | 0.004–34.58 Mb | Affymetrix CytoScan 750 K array | ACMG standards and guideline | 7/33 (21.2%) | E (42.9%), A (28.6%), D (14.3%) | Not specified |
12 | China (our study) | 2022 | 0.2–25.7 Mb | Agilent-CGX 60 K array or Affymetrix CytoScan 750 K array | X-CNV, DECIPHER, and OMIM | 24/104 (23.1%) | A (66.1%), F (10.1%), D (7.3%) | Neurodevelopmental disorders (33.9%), craniofacial defects (11.9%), genitourinary defects (11.0%) |