Maternal Biomarker Study for Single Ventricle Heart Defects

The goal of this study was to discover novel cell-free molecular signals within the blood of pregnant women that potentially signal abnormal cardiac morphogenesis during gestation. RNA from maternal blood plasma and from a single-ventricle defect iPSC model were extracted and sequenced to identify differentially expressed miRNAs. Overall design: Blood from pregnant women after 20 weeks of gestation whose fetus was formally diagnosed as healthy, PAIVS, or with HLHS were recruited and their cell-free RNA was sequenced. Furthermore, iPSCs from CHD patients were differentiated into cardiomyocytes and their supernatant RNA was sequenced. Both sequenced datasets were compared to identify any differentially expressed miRNAs that could potentially be used as a biomarker for single-ventricle disease. Pregnant women with healthy babies and iPSC lines from healthy individuals were used as controls.