Major cardiac defects: Postnatal diagnoses
| Case number | Karyotype | Indication for echocardiography | Cardiac defect | Outcome |
|---|---|---|---|---|
| LVOTO, left ventricular outflow tract obstruction. | ||||
| 1 | Normal | Persistent cardiac murmur at 6 week follow up | VSD | Live birth, surgery |
| 2 | Normal | Suspected VSD on antenatal scan | VSD | Live birth, surgery |
| 3 | Normal | Central cyanosis and cardiac murmur | Pulmonary stenosis | Live birth, balloon dilatation |
| 4 | Normal | Persistent cardiac murmur at 6 week follow up | Pulmonary stenosis | Live birth, balloon dilatation |
| 5 | Normal | Central cyanosis and cardiac murmur | Tetralogy of Fallot | Live birth, surgery |
| 6 | Normal | Tachypnoea and poor feeding | Coarctation of the aorta, VSD, subaortic stenosis | Live birth, surgery |
| 7 | Normal | Neonatal collapse | Coarctation of the aorta and bicuspid aortic valve | Live birth, surgery |
| 8 | Normal | Central cyanosis | Transposition of the great arteries | Live birth, surgery |
| 9 | Normal | Failure to thrive, cardiomegaly on chest radiograph | Hypertrophic cardiomyopathy (LVOTO) | Live birth, long term follow up |
| 10 | T21 | Postnatal diagnosis of T21 and cardiac murmur | VSD | Live birth, surgery |