Transcriptomics of congenital heart defects and controls

Patients were enrolled into a biobank program at a single institution. A small volume of blood was collected in RNA stabilizer-containing tubes in the first month of the NICU hospitalization and prior to any cardiac surgery for CHD cases. Patients were selected and divided into three groups based on cardiac phenotype: cyanotic CHD and normoxic controls without CHD. Inclusion criteria for control patients were the absence of cardiopulmonary anomalies, gestational age greater than 32 weeks, absent or minimal respiratory support, as defined as non-invasive respiratory support with fractional inspired oxygen (FiO₂) of 21% (room air) with maintained normal oxygen saturations. Exclusion criteria were mechanical ventilation, or requirement of supplemental oxygen (FiO₂ > 21%). RNA sequencing was performed on cyanotic CHD patients (n = 11), and normoxic controls without CHD (n = 11).