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.|
|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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