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).

所有受试者均入组单机构生物样本库项目。针对先天性心脏病（Congenital Heart Disease, CHD）患者，于其在新生儿重症监护室（Neonatal Intensive Care Unit, NICU）住院首月内、接受任何心脏手术前，采用含RNA稳定剂的采血管采集少量血液样本。受试者根据心脏表型被分为三组：发绀型CHD组与无CHD的正常氧合对照组。对照组受试者的纳入标准为：无心肺畸形、胎龄超过32周，无或仅需极少量呼吸支持——该呼吸支持定义为采用吸入氧分数（Fractional Inspired Oxygen, FiO₂）为21%（即室内空气）的无创呼吸支持，并维持正常血氧饱和度。排除标准为接受有创机械通气，或需要吸入氧分数（FiO₂）＞21%的氧疗。本研究对11例发绀型CHD患者及11例无CHD的正常氧合对照组受试者开展了RNA测序。