Expanding the Utility of Prenatal Genetic Testing

Expanding the Utility of Prenatal Genetic Testing focuses on developing novel approaches to identifying fetal genetic conditions in utero. The placenta and fetus shed genetic material into maternal circulation, known as cell-free fetal DNA (cffDNA). Sequencing cell-free DNA in maternal circulation, therefore, can provide information about the genetic makeup of the fetus. By both adapting and employing the latest sequencing chemistries and developing novel statistical models, we hope to better characterize fetal genetic disorders with a non-invasive approach. Diagnosing genetic disorders in utero will eventually enable better care in the immediate neonatal period and the development of in utero gene therapy and other treatments.

The project is co-led by RENCI personnel (Dayne Filer, Bradford Powell, Kirk Wilhelmsen). RENCI resources provide the analytic knowledge and capabilities to drive the project.

• UNC Department of Obstetrics & Gynecology
• UNC School of Medicine High Throughput Sequencing Facility

• NC TraCS
• NIH National Institute of Child Health and Human Development