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).

本研究的受试者均入组自单中心生物样本库项目。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）住院首月内、接受心脏外科手术前，使用含RNA稳定剂的采血管采集少量血液样本。研究对象依据心脏表型被划分为三组：发绀型CHD患者以及无CHD的常氧对照人群。对照受试者的纳入标准为：无心肺结构异常，胎龄大于32周，且无或仅需极少量呼吸支持——后者定义为采用吸入氧分数（Fraction of Inspired Oxygen, FiO₂）为21%（室内空气）的无创呼吸支持，且可维持正常血氧饱和度。排除标准为需有创机械通气，或需额外供氧（FiO₂＞21%）。本研究对11例发绀型CHD患者及11例无CHD的常氧对照受试者开展了RNA测序。