research spotlight

grant recipient 2019

HyDROPS Study Continues with Promising Life-Saving Outcomes Over the past 16 months, Dr. Teresa Sparks' research team at UCSF has made significant progress with the HyDROPS study (Hydrops: Diagnosing and Redefining Outcomes with Precision Study). The total enrollment has increased to 118 cases in that time. This far exceeds the original goal of enrolling 20 cases in the first year of this project and 40 in the second year. This success has been rooted in the ability to enroll participants on a national level, even outside of the group's established collaborating sites. The research team has also seen an incredible level of interest from both participants and providers, and are thrilled to be contributing more knowledge about NIHF at an accelerated pace. In February of 2020, Dr. Sparks and team presented preliminary findings in oral format at the Society for Maternal-Fetal Medicine conference, and the project was awarded the 2020 Dru Carlson Memorial Award for Best Research in Ultrasound and Genetics. In terms of diagnostic yield, the team has identified a clear or likely genetic

Dr. Sparks and team members accepting the award; SMFM presentations

disorder underlying NIHF through trio exome sequencing in 37% of cases. Approximately 1/3 of these were RASopathies, a group of genetic disorders caused by changes to a pathway important for cellular signaling and growth. In addition, researchers saw numerous other types of genetic disorders such as inborn errors of metabolism, primary lymphedemas, cardiac disorders, mitochondrial disorders, hereditary anemias, and many others. Notably, all diagnoses made through this project had important implications for improving the care of these pregnancies and infants. Further, this research enables the group to understand both the full spectrum of genetic disorders underlying NIHF and the ways in which they present in utero. Only through this more thorough understanding can we improve our approach to prenatal diagnosis and care, as well as work toward the development of novel and targeted in utero treatment approaches to optimize outcomes for pregnancies with NIHF. Moving forward, we will continue to enroll broadly, apply thorough genomic sequencing techniques, and continue our multidisciplinary collaborations with the goal of developing specific in utero treatments for genetic disorders leading to NIHF.