Birth Defect clinical trials at UC Health
2 research studies open to new patients
open to eligible people ages up to 18 years
The investigator aims to examine the clinical utility of WES, including assessment of a variety of clinical outcomes in undiagnosed pediatric cases.
open to eligible people ages 18-55
This is a multi-center, prospective study designed to investigate the genetic etiologies of non-immune hydrops fetalis (NIHF) and other birth defects. In the setting of NIHF, up to 46% of prenatally diagnosed cases remain of unknown etiology after standard work up, and a substantial proportion of other birth defects remain of unknown etiology as well. The investigators will perform whole exome sequencing (WES) for the fetus or neonate, as well as both biological parents, in each of these cases to investigate the underlying genetic etiology.