1 | Increased NT | 13+0 | Asymmetry RV/LV | Increased NT of 7 mm, no other findings | Normal | Planned for serial scans; TOP at 13 weeks, postmortem severely narrowed aortic isthmus (<300 μm). |
2. | Family history congenital heart disease (×2) | 13+1 | Asymmetry RV/LV and Ao/PA, right sided heart | Diaphragmatic hernia suspected at 15 weeks; severe diaphragmatic hernia, left heart hypoplasia at 19 weeks | Normal | TOP at 21+3 weeks, postmortem large diaphragmatic hernia with severe lung hypoplasia, hypoplasia of the LV and severely hypoplastic aortic arch |
3 | Increased NT, unbalanced translocation | 16+0 | Asymmetry RV/LV | Progressive left ventricular outflow obstruction on subsequent scans | Unbalanced translocation (7/15) | TOP at 23+6 weeks, postmortem severe hypoplasia of LV and aortic arch |
4 | Increased NT | 14+1 | Asymmetry RV/LV, right sided heart | Limb abnormality, suspected diaphragmatic hernia | Normal | TOP at 14+2 weeks, no postmortem examination |
5 | Increased NT | 13+1 | Small aortic isthmus | Increased NT of 7.9 mm; no other findings | Normal | Planned for serial scans; TOP at 13 weeks, no postmortem examination |
6 | Increased NT | 13+3 | Asymmetry RV/LV, distal aortic arch not seen | Cystic hygroma | 45 XO | TOP at 14+0 weeks, postmortem severely narrowed aortic arch and isthmus |
7 | Exomphalos | 14+2 | Asymmetry RV/LV and Ao/PA | Exomphalos | Normal | Live birth, successful repair of coarctation and exomphalos |