Table 5.
Findings diagnostic for CHD by CMA and rGS
| CMA | rGS | |
|---|---|---|
| 22q11.21 deletion | 15 | 3* |
| Trisomy 21 | 6 | 2 |
| Beckwith-Wiedemann Syndrome | 2 | |
| Turner Syndrome | 2 | |
| Trisomy 9, mosaic | 1 | |
| 14q24.3q32.12 deletion | 1 | |
| 16p13.11-p12.3 duplication | 1 | |
| 8p23.1 duplication | 1 | |
| 10q23.22q26.3 duplication | 1 | |
| DNAH5 variant | 2 | |
| GATA6 variant | 1 | |
| NOTCH1 variant | 1 | |
| SETD5 variant | 1 | |
| TBX1 variant | 1 | |
| TRRAP variant | 1 | |
| 1q21.1 duplication | 1 | |
| 1q21.1 deletion | 1 | |
| 12P13.33p13.32 deletion | 1 | |
| 12q224.33 deletion | 1 | |
| 17p13.3 microduplication | 1 |
Abbreviations: CHD, Congenital heart disease; CMA, chromosome microarray; rGS, rapid genome sequencing
*
rGS performed due to additional medical concerns. Results reconfirmed Trisomy 21.