Table 3
Genetic features and testing.
| Case 1 | Case 2 | Case 3 | |
|---|---|---|---|
| Clinical features | Hypotonia, single simian crease on right hand, micropenis and bifid scrotum. | Family history of neonatal death with unknown cause. | Hypotonia, almond shaped eyes, low set ears, widely spaced nipples, sandal gap deformity. |
| Biochemical markers | Lactate: 28.7–33.8 mmol/L | ||
| Echocardiographic findings | Large PDA with RVSP 49 + right atrial pressure, moderate tricuspid regurgitation. | Large PDA, severe pulmonary hypertension with severely depressed biventricular function. | Moderate PDA with RVSP 74 + right atrial – pressure, flattened septum, severe RV dilation. |
| Radiologic testing | Brain MRI: Bilateral ventriculomegaly with interventricular hemorrhage. | Abdominal X-ray suggestive of intestinal obstruction. | |
| Encephalomalacia and gliosis of cerebral hemisphere. | Chest CTA: Enlargement of main PA. Smaller left lung along with small left. | ||
| PA branches | |||
| Suspected diagnosis | Unknown | Electron transport chain deficiency | Alveolar capillary dysplasia |
| Genetic testing results | FISH: 4 copies ofETV6 and 2 extra copies of short arm of chromosome 12. | WES: 2 heterozygous mutations in the TYMP genes. | WES: de novo heterogeneous Forkhead. |
| Box FI (FOXF1) deletion | |||
| Day of testing | DOL 2 (prior to ECMO) | DOL 2 | DOL 1 and 8 |
| Testing turn-around time | 8 days | 11 days | 14 days |
CTA, computed tomography arteriography; DOL, day of life; ECMO, extracorporeal membrane oxygenation; FISH, fluorescence in situ hybridization; MRI, magnetic resonance imaging; PA, pulmonary artery; PDA, patent ductus arteriosus; RV, right ventricle; RVSP, right ventricular systolic pressure; WES, whole exome sequence.
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