Table 4.
Associations Between Organ- or System-Specific Extracardiac Anomalies (ECA) and Genetic Diagnosis Identified.
| ECA Type | ECA Cohort Prevalence (%) | Genetic Diagnosis Identified (%) | Exact p-Value * | Odds Ratio (95% CI) ** |
|---|---|---|---|---|
| Skull | 1/1013 (0.1%) | 0/0 (0.0%) | p = 1.000 | |
| Head | 9/1013 (0.9%) | 4/9 (44.4%) | p = 0.2309 | |
| Neurological— Brain | 60/1013 (5.9%) | 33/60 (55.0%) | p < 0.0001 | 4.3 [2.5, 7.3] |
| Neurological— Other/Functional | 82/1013 (8.1%) | 40/82 (48.8%) | p < 0.0001 | 3.4 [2.1, 5.4] |
| Neural Tube Defect/Spinal Cord | 8/1013 (0.8%) | 4/8 (50.0%) | p = 0.1007 | |
| Eye | 29/1013 (2.9%) | 19/29 (66.5%) | p < 0.0001 | 6.4 [2.9, 14.0] |
| Ear | 4/1013 (0.4%) | 2/4 (50.0%) | p = 0.2462 | |
| Nose | 4/1013 (0.4%) | 2/4 (40.0%) | p = 1.000 | |
| Oral Cavity | 42/1013 (4.0%) | 23/42 (54.8%) | p < 0.0001 | 4.1 [2.2, 7.7] |
| Neck | 2/1013 (0.2%) | 2/2 (100.0%) | p = 0.0578 | |
| Throat—including Esophagus/Trachea | 34/1013 (3.4%) | 10/34 (29.4%) | p = 0.4228 | |
| Chest | 4/1013 (0.4%) | 1/4 (25.0%) | p = 1.000 | |
| Lung | 22/1013 (2.2%) | 10/22 (43.5%) | p = 0.0239 | 2.7 [1.2, 6.3] |
| Gastrointestinal & Abdominal Wall | 97/1013 (9.6%) | 34/97 (35.1%) | p = 0.0120 | 1.8 [1.2, 2.8] |
| Renal | 97/1013 (9.6%) | 33/97 (34.0%) | p = 0.0239 | 1.7 [1.1, 2.7] |
| Liver & Biliary | 45/1013 (4.4%) | 9/45 (20.0%) | p = 0.5956 | |
| Spleen | 45/1013 (4.4%) | 6/45 (13.3%) | p = 0.1032 | |
| Ribs & Vertebral | 38/1013 (3.8%) | 8/38 (21.0%) | p = 0.8467 | |
| Limb/Digit | 49/1013 (4.8%) | 24/49 (49.0%) | p = 0.0001 | 3.2 [1.8, 5.8] |
| Skin | 4/1013 (0.4%) | 3/4 (75.0%) | p = 0.0455 | 9.5 [1.0, 92.0] |
| Umbilical | 8/1013 (0.8%) | 1/8 (12.5%) | p = 0.6878 | |
| Immunologic | 3/1013 (0.3%) | 2/3 (66.7%) | p = 0.1458 | |
| Endocrine | 17/1013 (1.7%) | 10/17 (58.8%) | p = 0.0021 | 4.7 [1.8, 12.4] |
| Growth & Feeding | 75/1013 (7.4%) | 34/75 (45.3%) | p < 0.0001 | 2.9 [1.8, 4.6] |
| Hematologic | 9/1013 (0.9%) | 6/9 (66.7%) | p = 0.0080 | 6.4 [1.6, 25.9] |
| Other | 18/1013 (1.8%) | 6/18 (33.3%) | p = 0.4029 |
* Comparing proportions of those with a genetic diagnosis identified when the specific ECA is present vs absent. Statistically significant results indicate differences in genetic diagnosis proportion compared to the cohort average (24.1%; Table 1). ** The OR was only estimated for statistically significant associations. Statistically significant results and OR are in bold.