Table 3.
Cohort description of output measures and genetic evaluation.
| Group | Characteristic | Genetic test (n = 530) | No genetic test (n = 275) | Total (n) | P | Abnormal genetic test (n = 62) | No genetic test (n = 275) | No pathogenic changes (n = 468) | Total (n) | P |
|---|---|---|---|---|---|---|---|---|---|---|
| Sex | F | 238a (44.9%) | 120a (43.6%) | 358 (44.5%) | 0.824 | 34a (54.8%) | 120a (43.6%) | 204a (43.6%) | 358 (44.5%) | 0.502 |
| M | 285a (53.8%) | 150a (54.5%) | 435 (54.0%) | 27a (43.5%) | 150a (54.5%) | 258a (55.1%) | 435 (54.0%) | |||
| O | 7a (1.3%) | 5a (1.8%) | 12 (1.5%) | 1a (1.6%) | 5a (1.8%) | 6a (1.3%) | 12 (1.5%) | |||
| Associated anomalies | CDH-C | 207a (39.1%) | 104a (37.8%) | 311 (38.6%) | 0.923 | 56a (90.3%) | 104b (37.8%) | 151b (32.3%) | 311 (38.6%) | 4.5658E-16 |
| CDH-I | 311a (58.7%) | 164a (59.6%) | 475 (59.0%) | 6a (9.7%) | 164b (59.6%) | 305b (65.2%) | 475 (59.0%) | |||
| CDH-MD | 12a (2.3%) | 7a (2.5%) | 19 (2.4%) | 0a (0.0%) | 7a (2.5%) | 12a (2.6%) | 19 (2.4%) | |||
| Location of defect | Bilateral | 4a (0.8%) | 6a (2.2%) | 10 (1.2%) | 0.005998 | 0a (0.0%) | 6a (2.2%) | 4a (0.9%) | 10 (1.2%) | 0.004092 |
| Eventration | 17a (3.2%) | 1b (0.4%) | 18 (2.2%) | 1a, b (1.6%) | 1b (0.4%) | 16a (3.4%) | 18 (2.2%) | |||
| Left | 415a (78.3%) | 199a (72.4%) | 614 (76.3%) | 48a (77.4%) | 199a (72.4%) | 367a (78.4%) | 614 (76.3%) | |||
| POE | 4a (0.8%) | 2a (0.7%) | 6 (0.7%) | 2a (3.2%) | 2a (0.7%) | 2a (0.4%) | 6 (0.7%) | |||
| Right | 73a (13.8%) | 58b (21.1%) | 131 (16.3%) | 7a, b (11.3%) | 58b (21.1%) | 66a (14.1%) | 131 (16.3%) | |||
| MD | 17a (3.2%) | 9a (3.3%) | 26 (3.2%) | 4a (6.5%) | 9a (3.3%) | 13a (2.8%) | 26 (3.2%) | |||
| Defect size | A | 97a (18.3%) | 19b (6.9%) | 116 (14.4%) | 1.3023E-41 | 10a, b (16.1%) | 19b (6.9%) | 87a (18.6%) | 116 (14.4%) | 1.3224E-44 |
| B | 50a (9.4%) | 2b (0.7%) | 52 (6.5%) | 4a (6.5%) | 2b (0.7%) | 46a (9.8%) | 52 (6.5%) | |||
| C | 157a (29.6%) | 12b (4.4%) | 169 (21.0%) | 5a (8.1%) | 12a (4.4%) | 152b (32.5%) | 169 (21.0%) | |||
| D | 32a (6.0%) | 0b (0.0%) | 32 (4.0%) | 2a (3.2%) | 0b (0.0%) | 30a (6.4%) | 32 (4.0%) | |||
| NR | 194a (36.6%) | 242b (88.0%) | 436 (54.2%) | 41a (66.1%) | 242b (88.0%) | 153c (32.7%) | 436 (54.2%) | |||
| Timing of test | MD-genetic test | – | – | – | – | 13a (21.0%) | 0b (21.0%) | 88a (18.8.0%) | 101 (12.5%) | 8.4554E-167 |
| MD-no genetic test | – | – | – | 0a (0.0%) | 127b (46.2%) | 0a (0.0%) | 127 (15.8%) | |||
| Postnatal-genetic test | – | – | – | 16a (25.8%) | 0b (0%) | 101a (21.6%) | 117 (14.5%) | |||
| Postnatal-no genetic test | – | – | – | 0a (0.0%) | 96b (34.9%) | 0a (0.0%) | 96 (11.9%) | |||
| Prenatal-genetic test | – | – | – | 33a (53.2%) | 0b (0%) | 279a (59.6%) | 312 (38.8%) | |||
| Prenatal-no genetic test | – | – | – | 0a (0.0%) | 52b (18.9%) | 0a (0.0%) | 52 (6.5%) |
In total, 530 out of 805 patients received a genetic test. Defect size (A–D) was described in 369 patients. Defect sizes are classified from A to D as described in the method section. A is the smallest defect size and D a (near) absence of the diaphragm. Within a column each characteristic 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. For instance, more patients with associated anomalies have an abnormal test and vice versa more patients with an isolated defect have no abnormal test (P < 0.001). Patients with defect size A stand apart from the other defect sizes in respect to the number of abnormal genetic tests, C in having no genetic test and having no pathogenic alteration (P < 0.001). There are differences in having no genetic test, having an abnormal test result and having a normal test result comparing post- and pre-natal subgroups (P < 0.001). Trisomy 13, 18, and 21 were evaluated in 530 patients and more than half of the patients received at least karyotyping or SNP-array. A full cohort description is available in Supplementary Table S1. Complete statistical comparison of patients with a genetic test is depicted in Supplementary Table S2. 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.