Table 1.
Patient characteristics
| No. (%) |
P Value for Comparison Across Centers | |
|---|---|---|
| N = 2899 | ||
| Sex | .396 | |
| Male | 1590 (54.8%) | |
| Female | 1308 (45.1%) | |
| Unknown | 1 | |
| Race | <.001 | |
| African American /Black | 576 (19.9%) | |
| Asian | 120 (4.1%) | |
| Other | 165 (5.7%) | |
| White | 2038 (70.3%) | |
| Weight at birth (kg) | .392 | |
| Mean (SD) | 2.99 (0.69) | |
| Gestational age | .676 | |
| Term (≥37 wk) | 2310 (79.7%) | |
| Late preterm (32-37 wk) | 507 (17.5%) | |
| Preterm (<32 wk) | 80 (2.8%) | |
| Unknown | 2 (0.1%) | |
| Additional congenital malformation | <.001 | |
| Yes | 537 (18.5%) | |
| No | 2362 (81.5%) | |
Participants included children ≤14 months of age who underwent surgical repair for congenital heart disease across 5 centers, A1-A5 (all large children’s hospitals participating in the Cytogenomics of Cardiovascular Malformations Consortium). The proportion of patients who had genetic testing (testing rate) and the proportion of patients whose genetic testing results were reported as abnormal (testing yield) were analyzed, across 4 major genetic testing methods: chromosome analysis, FISH analysis, CMA, and molecular testing. The proportion of patients who received testing, the choice of modality, and the yield of testing differed significantly across centers.
CMA, chromosomal microarray analysis; FISH, fluorescence in situ hybridization analysis.