Table 1.
Some recent studies that used chromosomal microarrays for diagnostic testing in cohorts of affected individuals and their diagnostic rates.
| Study/Year | Cohort | CMA Platforms | Sample No | Detection Rate of Pathogenic CNVs |
|---|---|---|---|---|
| Bruno et al.53 | Australia patents with ID and CA | AFFYMETRIX 250K microarrays | 117 | 15% |
| Kashevarova et al.11 | Russian patients with ID | AGILENT 44K e 60K. | 79 | 28% |
| Bartnik et al.13 | Polish patients with neurodevelopmental disorder | V8 OLIGO 180k (customized) | 256 | 16% |
| Preiksaitiene et al.15 | Lithuanian patients with neurodevelopmental disorder | AGILENT 105k and 400k | 201 | 14% |
| Roselló et al.5 | Spanish children with neurodevelopmental disorder | AGILENT 44K | 246 | 30% |
| Coutton et al.14 | French children with moderate ID | 4 × 180K OLIGONUCLEOTIDE ARRAY (AGILENT TECHNOLOGIES) | 66 | 21% |
| Lay-Son et al.16 | Chilean patients with neurodevelopmental disorder | CYTOSCAN HD, AFFYMETRIX | 40 | 25% |
| Pfundt et al.9 | North American patients with disorder neurodevelopment | CYTOSCAN DX, AFFYMETRIX (Platform similar to CYTOSCAN HD) | 960 | 14% (first line test)* |
| Quintela et al.26 | Galician patients with neurodevelopmental disorder (Spain) | CYTOGENETICS WHOLE-GENOME 2.7 M (n = 126) and CYTOSCAN HD (n = 447) | 573 | 11,2% to 13,6% |
| Wu et al.12 | Children with congenital heart disease (Chinese population) | AFFYMETRIX CYTOSCAN HD | 104 | 28% |
| Borlot et al.24 | Patients with unexplained childhood-onset epilepsy and intellectual disability (Toronto) | 4 × 180K OLIGONUCLEOTIDE ARRAY (AGILENT TECHNOLOGIES) | 134 | 16% |
| HEIDE et al.27 | Patients with both corpus callosum abnormality and intellectual disability (French) | 370 CNV-QUAD (n = 7), CYTOSNP-12 (n = 121) our HUMANOMNIEXPRESS-24 (n = 21) (ILLUMINA) | 149 | 13% |
| Di Gregorio et al.54 | Patients diagnosed with DD/ID in Turin, Italy | AGILENT 60K | 1015 | 11% |
| Sansović et al.55 | Patients with DD/ID with or without dysmorphism, ASD, and/or CA (Croatia) | AGILENT SUREPRINT G3 UNRESTRICTED CGH ISCA V2 | 337 | 22% |
| Kessi et al.56 | Patients with ID/DD and epilepsy (Chinese population) | AFFYMETRIX + SNP Microarray And ILLUMINA HUMANCYTOSNP-12 | 100 | 25% |
*CMA used as a first line test (no screening with classical cytogenetics). CYTOSCAN HD platform validation study at FDA. DD = developmental delay; ID = intellectual disability; CA = congenital anomalies; ASD = autism spectrum disorder.