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).

本研究所有受试者均于单一医疗机构入组生物样本库（biobank）项目。针对先天性心脏病（Congenital Heart Disease, CHD）患者，在其新生儿重症监护病房（Neonatal Intensive Care Unit, NICU）住院首月且接受心脏手术前，采用含RNA稳定剂的采血管采集少量血液样本。研究人员基于心脏表型将入组受试者划分为三组：紫绀型先天性心脏病（cyanotic CHD）组与无先天性心脏病的正常氧合对照组。对照组受试者的纳入标准为：无心肺结构异常、胎龄大于32周、无需或仅需极少量呼吸支持——其中极少量呼吸支持定义为采用吸入氧分数（Fractional Inspired Oxygen, FiO₂）为21%（室内空气）的无创呼吸支持，且血氧饱和度维持正常。排除标准为接受有创机械通气，或需使用吸入氧分数（FiO₂ > 21%）的供氧支持。最终对11例紫绀型先天性心脏病患者以及11例无先天性心脏病的正常氧合对照组受试者开展了RNA测序（RNA sequencing）。