Table 3.
Diagnostic yield and inconclusive rate by mode of inheritance.
| Result type | Mode of inheritance | Pediatric (n = 529) | Prenatal (n = 316) |
|---|---|---|---|
| Definite/Probable Positive | AD1, de novo | 67 (12.7%) | 34 (10.8) |
| AD, inherited | 14 (2.6%) | 4 (1.3%) | |
| AD, segregation unknown | 17 (3.2%) | 1 (0.3%) | |
| AR2, homozygous | 14 (2.6%) | 4 (1.3%) | |
| AR, compound heterozygous | 11 (2.1%) | 11 (3.5%) | |
| X-linked | 18 (3.4%) | 6 (1.9%) | |
| All | 141 (26.7%) | 60 (19.0%) | |
| Inconclusive | |||
| AD, de novo | 11 (2.1%) | 6 (1.9%) | |
| AD, inherited | 11 (2.1%) | 4 (1.3%) | |
| AD, segregation unknown | 8 (1.5%) | 2 (0.6%) | |
| AR, homozygous | 24 (4.5%) | 3 (0.9%) | |
| AR, compound heterozygous | 9 (1.7%) | 3 (0.9%) | |
| X-linked | 11 (2.1%) | 2 (0.6%) | |
| All | 74 (14.0%) | 20 (6.3%) | |
| Negative | 314 (59.4%) | 236 (74.7%) |
AD1 autosomal dominant, AR2 autosomal recessive.