Table 2.
Characteristics of studies reporting diagnostic or clinical utility of chromosomal microarray
| Citation | Site | Number of proband children | Genetic diseases tested | Proband age (mean or median) | Consanguinity | Diagnostic utility | De novo variant diagnosis rate | Rate of clinical utility |
|---|---|---|---|---|---|---|---|---|
| Lionel et al.36 | CA | 44 | Any | <18 yr | 9% | 0% | n.d. | 0% |
| Vissers et al.23 | NL | 150 | Neuro | 5 yr 7 mo | 3% | 3% | 100% | n.d. |
| Meng et al.33 | US | 237 | Any | 28 days | n.d. | 5% | n.d. | 3% |
| Willig et al.46 | US | 25 | Any | 26 days | 3% | 4% | n.d. | 0% |
| Petrikin et al.26 | US | 48 | Any | <4 mo | 5% | 6% | n.d. | 2% |
| Farnaes et al.38 | US | 18 | Any | <1 yr | 6% | 17% | n.d. | 6% |
| Stavropoulos et al.34 | CA | 100 | Neuro | 5.5 yr | n.d. | 8% | n.d. | n.d. |
| Ho et al.49 | US | 5487 | a | 7.2 yr | n.d. | 9% | n.d. | n.d. |
| Zilina et al.50 | ES | 1072 | Any | Postnatal | 8% | 11% | 22% | n.d. |
| Tao et al.51 | HK | 327 | Any | <18 yr | n.d. | 11% | n.d. | 9% |
| Henderson et al.52 | US | 1780 | a | <18 yr | n.d. | 13% | n.d. | 6% |
| Coulter et al.53 | US | 1792 | a | <18 yr | n.d. | 13% | n.d. | 6% |
| Battaglia et al.54 | IT | 349 | a | <18 yr | n.d. | 16% | 45% | n.d. |
| Sum/Average | 13 | 11,429 | 7% | 11% | 31% | 6% |
ES Estonia, IT Italy, HK Hong Kong, CA Canada, NL Holland
The statistics in bold are calculated across all rows
aIntellectual disability, developmental disorders, autism spectrum disorder, multiple congenital anomalies