Our programs include genome sequencing and deep phenotyping of fetal samples ranging from those harboring structural anomalies detected on ultrasound to fetal demise. Our collective goal is to sequence, analyze, and interpret genomic variation underlying fetal anomalies, and to aggregate all fetal genomics datasets under a cloud-based data resource with associated phenotype codes for the research and clinical communities.
We evaluate and develop technologies that have the potential to transform prenatal diagnostics. This includes utilization of technologies such as short read genome sequencing and RNA sequencing in addition to emerging approaches such as long read sequencing and methylation profiling as well as methods for standardizing phenotyping. We are also developing non-invasive methods to comprehensively assess fetal coding variation from a maternal blood sample.
Build a Network
The Fetal Genomics Consortium (FGC) serves as a nexus to bring together experts in maternal-fetal medicine, genetics, computational genomics, imaging and clinical diagnostics. The united goal is to advance care during and after pregnancy and understand the genomics of the developmental continuum.