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. 2018 Jul 9;3:16. doi: 10.1038/s41525-018-0053-8

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