Table 4.
Significant differences in output measures of patients with a genetic test.
| Group | Characteristic | Abnormal genetic test (n = 62) | No pathogenic changes (n = 468) | P |
|---|---|---|---|---|
| Associated anomalies | CDH-complex (n = 207) | 56a (27.1%) | 151a (72.9%) | 1,432E-14 |
| CDH-isolated (n = 311) | 6b (1.9%) | 305b (98.1%) | ||
| CDH-unknown (n = 12) | 0a,b (0.0%) | 12a,b (100.0%) | ||
| Defect size | A (n = 97) | 10a,b (10.3%) | 87a,b (89.7%) | 0.000006 |
| B (n = 50) | 4a,b (8.0%) | 46a,b (92.0%) | ||
| C (n = 157) | 5b (3.2%) | 152b (96.8%) | ||
| D (n = 32) | 2a,b (6.3%) | 30a,b (93.8%) | ||
| NR (n = 194) | 41a (21.1%) | 153a (78.9%) | ||
| Type of genetic test | Karyotyping | 297 (56.0%) | ||
| WES | 51 (9.6%) | |||
| Array | 362 (68.3%) | |||
| Trisomy 13, 18, 21* | 530 (100%) |
Significant differences when evaluating only patients with a genetic test. Trisomy 13, 18, and 21 were evaluated in 530 patients and more than half of the patients received at least karyotyping or SNP-array. An abnormal genetic test is seen more often in complex-CDH (P < 0.001) and defect size C differs from the missing data category (P < 0.001) as substantially more abnormal genetic tests are described in the later. Within a column each characteristic measure that does not share a subscript letter (a−b) differs significantly from those with different subscript letters (a−b) whose column proportions do not differ significantly from each other at the 0.05 level. WES, whole exome sequencing; MD, Missing data; CDH-C, CDH patients with associated defects; CDH-I, CDH patients without other associated defects; CDH-MD, CDH patients in which no additional information was registered; POE, Paraoesophageal hernia; EV, Eventration; BL, Bilateral hernia; AGT, abnormal genetic test; NPC, no pathogenic changes.