Table 3.
Testing rate and testing yield by cardiac lesion
| Any Tests | Chromosome Analysis |
FISH | CMA | Molecular | |
|---|---|---|---|---|---|
| All patients | |||||
| Testing | |||||
| Yes | 1607 (55.4%) | 408 (14.1%) | 344 (11.9%) | 1220 (42.1%) | 197 (6.8%) |
| No | 1292 (44.6%) | 2491 (85.9%) | 2555 (88.1%) | 1679 (57.9%) | 2702 (93.2%) |
| Abnormal | |||||
| Yes | 702 (43.7%) | 207 (50.7%) | 112 (32.6%) | 413 (33.9%) | 92 (46.7%) |
| No | 905 (56.3%) | 201 (49.3%) | 232 (67.4%) | 807 (66.1%) | 105 (53.5%) |
| Conotruncal defect | |||||
| Testing | |||||
| Yes | 599 (66.2%) | 89 (9.8%) | 179 (19.8%) | 464 (51.3%) | 71 (7.8%) |
| No | 306 (33.8%) | 816 (90.2%) | 726 (80.2%) | 441 (48.7%) | 834 (92.2%) |
| Abnormal | |||||
| Yes | 234 (39.1%) | 24 (27.0%) | 59 (33.0%) | 157 (33.8%) | 32 (45.1%) |
| No | 365 (60.9%) | 65 (73.0%) | 120 (67.0%) | 307 (66.2%) | 39 (54.9%) |
| LVOTO | |||||
| Testing | |||||
| Yes | 362 (58.9%) | 89 (14.5%) | 67 (10.9%) | 312 (50.7%) | 46 (7.5%) |
| No | 253 (41.1%) | 526 (85.5%) | 548 (89.1%) | 303 (49.3%) | 569 (92.5%) |
| Abnormal | |||||
| Yes | 128 (35.4%) | 27 (30.3%) | 15 (22.4%) | 99 (31.7%) | 18 (39.1%) |
| No | 234 (64.6%) | 62 (69.7%) | 52 (77.6%) | 213 (68.3%) | 28 (60.9%) |
| Septal defect | |||||
| Testing | |||||
| Yes | 168 (35.3%) | 60 (12.6%) | 25 (5.3%) | 112 (23.5%) | 23 (4.8%) |
| No | 308 (64.7%) | 416 (87.4%) | 451 (94.7%) | 364 (76.5%) | 453 (95.2%) |
| Abnormal | |||||
| Yes | 94 (56.0%) | 47 (78.1%) | 11 (44.0%) | 44 (39.3%) | 9 (39.1%) |
| No | 74 (44.0%) | 13 (21.7%) | 14 (56.0%) | 68 (60.7%) | 14 (60.9%) |
| AVSD | |||||
| Testing | |||||
| Yes | 166 (51.4%) | 111 (34.4%) | 19 (5.9%) | 63 (19.5%) | 12 (3.7%) |
| No | 157 (48.6%) | 212 (65.6%) | 304 (94.1%) | 260 (80.5%) | 311 (96.3%) |
| Abnormal | |||||
| Yes | 132 (79.5%) | 98 (88.3%) | 13 (68.4%) | 33 (52.4%) | 8 (66.7%) |
| No | 34 (20.5%) | 13 (11.7%) | 6 (31.6%) | 30 (47.6%) | 4 (33.3%) |
| RVOTO | |||||
| Testing | |||||
| Yes | 81 (57.9%) | 18 (12.9%) | 20 (14.3%) | 67 (47.9%) | 15 (10.7%) |
| No | 59 (42.1%) | 122 (87.1%) | 120 (85.7%) | 73 (52.1%) | 125 (89.3%) |
| Abnormal | |||||
| Yes | 26 (32.1%) | 1 (5.6%) | 3 (15.0%) | 20 (29.9%) | 6 (40.0%) |
| No | 55 (67.9%) | 17 (94.4%) | 17 (85.0%) | 47 (70.1%) | 9 (60.0%) |
| APVR | |||||
| Testing | |||||
| Yes | 60 (47.2%) | 9 (7.1%) | 9 (7.1%) | 58 (45.7%) | 2 (1.6%) |
| No | 67 (52.8%) | 118 (92.9%) | 118 (92.9%) | 69 (54.3%) | 125 (98.4%) |
| Abnormal | |||||
| Yes | 25 (41.7%) | 3 (33.3%) | 7 (77.8%) | 22 (37.9%) | 1 (50.0%) |
| No | 35 (58.3%) | 6 (66.7%) | 2 (22.2%) | 36 (62.1%) | 1 (50.0%) |
| Heterotaxy | |||||
| Testing | |||||
| Yes | 60 (75.9%) | 12 (15.2%) | 16 (20.3%) | 55 (69.6%) | 7 (8.9%) |
| No | 19 (24.1%) | 67 (84.8%) | 63 (79.7%) | 24 (30.4%) | 72 (91.1%) |
| Abnormal | |||||
| Yes | 19 (31.7%) | 0 (0%) | 0 (0%) | 15 (27.3%) | 6 (85.7%) |
| No | 41 (68.3%) | 12 (100%) | 16 (100%) | 40 (72.7%) | 1 (14.3%) |
| Arteriopathy | |||||
| Testing | |||||
| Yes | 27 (35.5%) | 1 (1.3%) | 4 (5.3%) | 17 (22.4%) | 6 (7.9%) |
| No | 49 (64.5%) | 75 (98.7%) | 72 (94.7%) | 59 (77.6%) | 70 (92.1%) |
| Abnormal | |||||
| Yes | 11 (40.7%) | 0 (0%) | 2 (50%) | 5 (29.4%) | 4 (66.7%) |
| No | 16 (59.3%) | 1 (100%) | 2 (50%) | 12 (70.6%) | 2 (33.3%) |
| Other | |||||
| Testing | |||||
| Yes | 84 (53.2%) | 19 (12.0%) | 5 (3.2%) | 72 (45.6%) | 16 (10.1%) |
| No | 74 (46.8%) | 139 (88.0%) | 153 (96.8%) | 86 (54.4%) | 142 (89.9%) |
| Abnormal | |||||
| Yes | 33 (39.3%) | 7 (36.8%) | 2 (40%) | 18 (25.0%) | 9 (56.2%) |
| No | 51 (60.7%) | 12 (63.2%) | 3 (60%) | 54 (75.0%) | 7 (43.8%) |
APVR, anomalous pulmonary venous return; AVSD, atrioventricular septal defect; CMA, chromosomal microarray analysis; FISH, fluorescence in situ hybridization analysis; LVOTO, left ventricle outflow tract obstruction; RVOTO, right ventricle outflow tract obstruction.