Awarded a research grant to further support the completion of your research project titled “Non-Immune Hydrops Fetalis: Toward a Precision-Based Approach.”
Their research is focused on prenatal evaluation and diagnosis for non-immune hydrops fetalis (NIHF), with an emphasis on the ultimate development of innovative in utero treatments to improve perinatal outcomes. Because an underlying cause is not identified in nearly half of all NIHF cases during pregnancy, their goal is to uncover the wide spectrum of etiologies with thorough genetic testing. Since the time of their 2018 application for the Brianna Marie Memorial Research Grant, their study has opened for enrollment at UCSF and 3 other institutions, as well as for enrollment of participants anywhere in the country. In 10 months, they enrolled 47 families from across the country. Preliminary results have been very encouraging, showing that whole exome sequencing (WES) identifies an underlying genetic etiology in 42% of unexplained NIHF cases. They ultimately aim to use the information they learn about the genetic etiologies of NIHF to develop and apply novel, in utero treatments specific to the underlying genetic disease (such as in utero enzyme replacement therapy and stem cell transplantation). With this research, they can significantly improve their ability to identify the cause of NIHF, and importantly, redefine their approach to perinatal treatment to significantly improve the grim prognosis for each affected baby.