Table 1.
Systematic review of incremental diagnostic yield and VUS rate detected by CMA for each subgroup of CVM.
| Article (Area) | Test | US Anomaly | Diagnostic Yield | VUSs | Negative Results | |||
|---|---|---|---|---|---|---|---|---|
|
Fu, 2017 [89] (China) |
SNP | VSD | 4/73 | (5.48%) | 3/73 | (4.11%) | 66/73 | (90.41%) |
|
Gindes, 2021 [90] (Israel) |
CMA | PAVSD + MAPCAs | 0/3 | (0%) | - | - | 3/3 | (100%) |
|
Hureaux, 2019 [91] (France) |
CGH or SNP | isolated CVM | 17/160 | (10.63%) | 4/160 | (2.5%) | 139/160 | (86.88%) |
| Septal Defects | 3/38 | (7.89%) | 1/38 | (2.63%) | 34/38 | (89.47%) | ||
| RVOTD | 2/13 | (15.38%) | 1/13 | (7.69%) | 10/13 | (76.92%) | ||
| LVOTD | 2/49 | (4.08%) | 2/49 | (4.08%) | 45/49 | (91.84%) | ||
| CTD | 10/60 | (16.67%) | 0/60 | (0%) | 50/60 | (83.33%) | ||
|
Lazier, 2016 [92] (Canada) |
CGH | isolated CVM | 2/8 | (25%) | 0/8 | (0%) | 6/8 | (75%) |
| HLHS | 0/2 | (0%) | 0/2 | (0%) | 2/2 | (100%) | ||
| IAA | 0/2 | (0%) | 0/2 | (0%) | 2/2 | (100%) | ||
| TOF | 1/3 | (33.33%) | 0/3 | (0%) | 2/3 | (66.67%) | ||
| Hypoplastic RV + PA | 1/1 | (100%) | 0/1 | (0%) | 0/1 | (0%) | ||
|
Lee, 2020 [93] (Korea) |
SNP | D-TGA | 2/23 | (8.7%) | 0/23 | (0%) | 21/23 | (91.30%) |
|
Lu, 2022 [94] (China) |
SNP | isolated CVM | 18/116 | (15.52%) | - | - | 98/116 | (84.48%) |
|
Maya, 2017 [95] (Israel) |
CGH | ARSA | 0/36 | (0%) | - | - | 36/36 | (100%) |
|
Maya, 2020 [96] (Israel) |
CGH, SNP or hybrid | VSD | 6/566 | (1.06%) | - | - | 560/566 | (98.94%) |
|
Mustafa, 2020 [97] (USA) |
SNP | isolated CVM | 8/118 | (6.78%) | - | - | 110/118 | (93.22%) |
|
Qiao, 2021 [98] (China) |
SNP | isolated CVM | 18/247 | (7.29%) | - | - | 229/247 | (92.71%) |
| VSD | 7/92 | (7.61%) | - | - | 85/92 | (92.39%) | ||
| AVSD | 1/13 | (7.69%) | - | - | 12/13 | (92.31%) | ||
| DORV | 1/17 | (5.88%) | - | - | 16/17 | (94.12%) | ||
| D-TGA | 0/13 | (0%) | - | - | 13/13 | (100%) | ||
| IAA B | 0/2 | (0%) | - | - | 2/2 | (100%) | ||
| TOF | 6/34 | (17.65%) | - | - | 28/34 | (82.35%) | ||
| TA | 0/3 | (0%) | - | - | 3/3 | (100%) | ||
| AS | 0/4 | (0%) | - | - | 4/4 | (100%) | ||
| HLHS | 1/16 | (6.25%) | - | - | 15/16 | (93.75%) | ||
| Ebstein Anomaly | ½ | (50%) | - | - | 1/2 | (50%) | ||
| Pulmonary Stenosis | 1/16 | (6.25%) | - | - | 15/16 | (93.75%) | ||
| Tricuspid Atresia | 0/6 | (0%) | - | - | 6/6 | (100%) | ||
| heterotaxy | 0/17 | (0%) | - | - | 17/17 | (100%) | ||
| RAA | 0/11 | (0%) | - | - | 11/11 | (100%) | ||
| Cor Triatriatum | 0/1 | (0%) | - | - | 1/1 | (100%) | ||
|
Sagi-Dain, 2021 [99] (Israel) |
SNP or hybrid | isolated CVM | 27/1365 | (1.98%) | - | - | 1338/1365 | (98.02%) |
| VSD | 8/623 | (1.28%) | - | - | 615/623 | (98.72%) | ||
| ARSA | 3/381 | (0.79%) | - | - | 378/381 | (99.21%) | ||
| RAA | 5/136 | (3.68%) | - | - | 131/136 | (96.32%) | ||
| TOF | 6/67 | (8.96%) | - | - | 61/67 | (91.04%) | ||
| AVC | 1/42 | (2.38%) | - | - | 41/42 | (97.62%) | ||
| TGA | 3/30 | (10%) | - | - | 27/30 | (90%) | ||
| Vessel Anomaly | 1/27 | (3.7%) | - | - | 26/27 | (96.3%) | ||
| HLHS | 0/16 | (0%) | - | - | 16/16 | (100%) | ||
| SIT | 0/15 | (0%) | - | - | 15/15 | (100%) | ||
| Interrupted inferior vena cava | 0/7 | (0%) | - | - | 7/7 | (100%) | ||
| PLSVC | 0/7 | (0%) | - | - | 7/7 | (100%) | ||
| Aortic diameter anomaly | 0/6 | (0%) | - | - | 6/6 | (100%) | ||
| DORV | 0/5 | (0%) | - | - | 5/5 | (100%) | ||
| TA | 0/3 | (0%) | - | - | 3/3 | (100%) | ||
|
Shaffer, 2012 [100] (USA) |
CGH | isolated CVM | 4/119 | (3.36%) | - | - | 115/119 | (96.64%) |
| HLHS | 4/42 | (9.52%) | - | - | 38/42 | (90.48%) | ||
| TOF | 0/18 | (0%) | - | - | 18/18 | (100%) | ||
| VSD | 0/38 | (0%) | - | - | 38/38 | (100%) | ||
| Dextrocardia/SIT | 0/21 | (0%) | - | - | 21/21 | (100%) | ||
|
Song, 2019 [101] (China) |
CMA | isolated CVM | 17/138 | (12.32%) | 10/138 | (7.25%) | 111/138 | (80.43%) |
| VSD | 8/82 | (9.76%) | 5/82 | (6.1%) | 69/82 | (84.15%) | ||
| VSD + Aortic Abnormality | 3/8 | (37.5%) | 1/8 | (12.5%) | 4/8 | (50%) | ||
| VSD + Pulmonary Abnormality | 1/5 | (20%) | 0/5 | (0%) | 4/5 | (80%) | ||
| DORV | 1/1 | (100%) | 0/1 | (0%) | 0/1 | (0%) | ||
| VSD, VR | 0/1 | (0%) | 1/1 | (100%) | 0/1 | (0%) | ||
| TOF | 1/10 | (10%) | 0/10 | (0%) | 9/10 | (90%) | ||
| Single Ventricle | 2/5 | (40%) | 0/5 | (0%) | 3/5 | (60%) | ||
| VR | 1/21 | (4.76%) | 1/21 | (4.76%) | 19/21 | (90.48%) | ||
| AS, IAA | 0/5 | (0%) | 2/5 | (40%) | 3/5 | (60%) | ||
|
Svirsky, 2019 [102] (Israel) |
SNP | muscular VSD | 0/29 | (0%) | - | - | 29/29 | (100%) |
|
Turan, 2018 [103] (USA) |
SNP | isolated CVM | 16/86 | (18.6%) | - | - | 70/86 | (81.4%) |
| LVOTD | 3/22 | (13.64%) | - | - | 19/22 | (86.36%) | ||
| CTD | 5/34 | (14.71%) | - | - | 29/34 | (85.29%) | ||
| AVSD | 0/2 | (0%) | - | - | 2/2 | (100%) | ||
| VSD | 2/7 | (28.57%) | - | - | 5/7 | (71.43%) | ||
| RSD | 3/13 | (23.08%) | - | - | 10/13 | (76.92%) | ||
| RAA | 2/6 | (33.33%) | - | - | 4/6 | (66.67%) | ||
| ASD + PLSVC | ½ | (50%) | - | - | 1/2 | (50%) | ||
|
Wang, 2018 [104] (China) |
SNP | isolated CVM | 27/359 | (7.52%) | - | - | 332/359 | (92.48%) |
| VSD | 6/169 | (3.55%) | - | - | 163/169 | (96.45%) | ||
| TA | 3/6 | (50%) | - | - | 3/6 | (50%) | ||
| IAA B | 3/11 | (27.27%) | - | - | 8/11 | (72.72%) | ||
| D-TGA | 0/11 | (0%) | - | - | 11/11 | (100%) | ||
| DORV | 2/11 | (18.18%) | - | - | 9/11 | (81.81%) | ||
| TOF | 8/63 | (12.7%) | - | - | 55/63 | (87.30%) | ||
| HLHS | 1/16 | (6.25%) | - | - | 15/16 | (93.75%) | ||
| AS | 1/3 | (33.33%) | - | - | 2/3 | (66.67%) | ||
| AS + Pulmonary Stenosis | 0/2 | (0%) | - | - | 2/2 | (100%) | ||
| Pulmonary Stenosis | 1/16 | (6.25%) | - | - | 15/16 | (93.75%) | ||
| Pulmonary Atresia | 0/9 | (0%) | - | - | 9/9 | (100%) | ||
| Tricuspid Atresia | 0/3 | (0%) | - | - | 3/3 | (100%) | ||
| AVSD | 0/4 | (0%) | - | - | 4/4 | (100%) | ||
| Heterotaxy | 2/19 | (10.53%) | - | - | 17/19 | (89.47%) | ||
| Single Ventricle | 0/1 | (0%) | - | - | 1/1 | (100%) | ||
| L-TGA | 0/1 | (0%) | - | - | 1/1 | (100%) | ||
| RAA | 0/9 | (0%) | - | - | 9/9 | (100%) | ||
| PLSVC | 0/2 | (0%) | - | - | 2/2 | (100%) | ||
| DAA | 0/2 | (0%) | - | - | 2/2 | (100%) | ||
| Aortopulmonary window | 0/1 | (0%) | - | - | 1/1 | (100%) | ||
|
Wu, 2020 [105] (China) |
CMA | ARSA | 0/35 | (0%) | 0/35 | (0%) | 35/35 | (100%) |
| RAA | 1/19 | (5.26%) | 0/19 | (0%) | 18/19 | (94.74%) | ||
|
Zhu, 2016 [106] (China) |
CMA | isolated CVM | 6/58 | (10.34%) | 2/58 | (3.45%) | 50/58 | (86.21%) |
| CTD | 3/19 | (15.79%) | 1/19 | (5.26%) | 15/19 | (78.95%) | ||
| AVSD | 0/3 | (0%) | 0/3 | (0%) | 3/3 | (100%) | ||
| LVOTD | 0/4 | (0%) | 0/4 | (0%) | 4/4 | (100%) | ||
| RVOTD | ¼ | (25%) | 1/4 | (25%) | 2/4 | (50%) | ||
| VSD | 2/28 | (7.14%) | 0/28 | (0%) | 26/28 | (92.86%) | ||
ARSA: aberrant right subclavian artery; AS: aortic stenosis; AVC: atrioventricular canal; AVSD: atrioventricular septal defect; CGH: comparative genomic hybridization; CMA: chromosomal microarray analysis; CTD: conotruncal defect; CVM: cardiovascular malformation; DAA: double aortic arch; D-TGA: dextro-transposition of the great arteries; DORV: Double outlet right ventricle; HLHS: hypoplastic left heart syndrome; IAA: interrupted aortic arch; LVOTD: left ventricular outflow tract defect; L-TGA: levo-transposition of the great arteries; MAPCAs: major aortopulmonary collateral arteries; PA: pulmonary atresia; PAVSD: pulmonary atresia with ventricular septal defect; PLSVC: persistent left superior vena cava; RAA: right aortic arch; RV: right ventricle; RVOTD: right ventricular outflow tract defect; RSD: right sided defect; SIT: situs inversus; SNP: single-nucleotide polymorphism; TA: tricuspid atresia; TOF: tetralogy of Fallot; TGA: transposition of the great arteries; US: ultrasound; VR: vascular ring; VSD: ventricular septal defect; VUS: variants of uncertain significance.