Table 2.
Genetic, Renal and Head Ultrasound Results
| CTD (53) |
SD (26) |
SV (25) |
LSO (20) |
RSO (4) |
Other (12) |
|
|---|---|---|---|---|---|---|
| Karyotype | ||||||
| Performed, n (%) | 45 (85) | 22 (85) | 24 (96) | 16 (80) | 4 (100) | 8 (67) |
| Abnormal, n (%) | 3 (7) | 8 (36) | 4 (17) | 1 (6) | 0 | 1 (12) |
| FISH for 22q11.2 | ||||||
| Performed, n (%) | 44 (83) | 12 (46) | 21 (84) | 14 (70) | 4 (100) | 8 (67) |
| Abnormal, n (%) | 4 (9) | 0 | 0 | 1 (7) | 0 | 0 |
| RUS | ||||||
| Performed, n (%) | 43 (81) | 16 (61) | 21 (84) | 18 (90) | 3 (75) | 11 (92) |
| Abnormal, n (%) | 8 (19) | 6 (37) | 4 (19) | 6 (33) | 2 (67) | 3 (27) |
| HUS | ||||||
| Performed, n (%) | 48 (91) | 16 (61) | 24 (96) | 19 (95) | 4 (100) | 11 (92) |
| Abnormal, n (%) | 13 (27) | 4 (25) | 4 (17) | 3 (16) | 1 (25) | 2 (18) |
|
| ||||||
|
Patients with Abnormal
Tests (%) * |
23 (43) | 15 (58) | 11 (44) | 11 (55) | 2 (50) | 5 (42) |
*
Nine patients had more than one abnormal test 5, see Table 6 for details CTD: Conotruncal Defect; FISH: Fluorescence in situ hybridization; HUS: Head Ultrasound; LSO: Left-sided Obstructive Lesions; RUS: Renal Ultrasound; RSO: Right-sided Obstructive Lesions; SD: Septal Defects; SV: Single-Ventricle