Table 2.
Exome sequencing results of P3EGS patients (based on pediatric inclusion criteria and prenatal phenotypes with ultrasound).
| Definitive/probable positive n (%a) | Inconclusive n (%a) | Negative n (%a) | Total n (%b) | |
|---|---|---|---|---|
| Pediatric inclusion criteria (n = 529) | ||||
| ID + MCA | 71 (28.2) | 31 (12.3) | 150 (59.5) | 252 (47.6) |
| MCA | 29 (27.6) | 16 (15.2) | 60 (57.1) | 105 (19.8) |
| ID only | 8 (16.7) | 6 (12.5) | 34 (70.8) | 48 (9.1) |
| Epilepsy + ID | 9 (21.4) | 8 (19.0) | 25 (59.5) | 42 (7.9) |
| NDD + ID | 9 (29.0) | 5 (16.1) | 17 (54.8) | 31 (5.9) |
| Metabolic disease, no ID | — | 3 (25.0) | 9 (75.0) | 12 (2.3) |
| NDD, no ID | 4 (40.0) | 1 (10.0) | 5 (50.0) | 10 (1.9) |
| Metabolic disease + ID | 4 (44.4) | 3 (33.3) | 2 (22.2) | 9 (1.7) |
| Encephalopathy | 2 (40.0) | — | 3 (60.0) | 5 (0.9) |
| Epilepsy no ID | 1 (33.3) | — | 2 (66.7) | 3 (0.6) |
| Otherc | 4 (33.3) | 1 (8.3) | 7 (58.3) | 12 (2.3) |
| Pediatric patients total | 141 (26.7) | 74 (14.0) | 314 (59.4) | 529 (100.0) |
| Prenatal inclusion criteria by ultrasound findings at enrollment (n = 316) | ||||
| Isolated anomaly | 15 (12.0) | 6 (4.8) | 104 (83.2) | 125 (39.6) |
| Cardiovascular | 3 (11.5) | 3 (11.5) | 20 (76.9) | 26 (8.2) |
| Central nervous system | 4 (16.0) | 0 (0) | 21 (84.0) | 25 (7.9) |
| Neck | 1 (5.3) | 2 (10.5) | 16 (84.2) | 19 (6.0) |
| Effusions | 2 (12.5) | — | 14 (87.5) | 16 (5.1) |
| Gastrointestinal tract | — | 1 (6.7) | 14 (93.3) | 15 (4.7) |
| Skeletal | 2 (20.0) | — | 8 (80.0) | 10 (3.2) |
| Genitourinary Tract | 2 (28.6) | — | 5 (71.4) | 7 (2.2) |
| Face | 1 (50.0) | — | 1 (50.0) | 2 (0.6) |
| Spine | — | — | 2 (100.0) | 2 (0.6) |
| Abdominal wall | — | — | 1 (100.0) | 1 (0.3) |
| Fetal growth alteration | — | — | 1 (100.0) | 1 (0.3) |
| Hematologic/lymphatic/skin | — | — | 1 (100.0) | 1 (0.3) |
| Ear | — | — | — | — |
| Pulmonary | — | — | — | — |
| Multiple anomalies | 45 (23.6) | 14 (7.3) | 132 (69.1) | 191 (60.4) |
| Prenatal patients total | 60 (19.0) | 20 (6.3) | 236 (74.7) | 316 (100.0) |
aRow %; bColumn %, ID Intellectual Disability, MCA Multiple Congenital Anomalies, NDD Neurodegenerative disorder/Cerebral palsy; Otherc Clinical findings associated with patients enrolled under ‘Other’ are provided with Table S12.