Dr. Tomo Tarui, a Principal Investigator at the Mother Infant Research Institute at Tufts Medical Center, Pediatric Neurologist and Director of the Baby Neurology Program at the Tufts Children's Hospital, was awarded five years of mentored support from the National Institute of Child Health and Human Development (NICHD) for his research on the prenatal diagnosis of brain malformations.
Receipt of a K23 grant, “Prenatal diagnosis of brain malformations: improving assessment of prognosis,” is a significant achievement in itself, in the highly competitive funding atmosphere at the NIH. Moreover, it is a career milestone in Dr. Tarui’s path towards becoming an independent clinical investigator.
The goal of this study is to develop novel fetal neuroimaging and genetic diagnostic technologies for brain malformations that are detected in fetuses by second trimester prenatal ultrasound examination. Findings from this study will develop better ways to understand the long-term prognosis for fetuses that are identified as having brain malformations. The data will also be used to ultimately develop novel fetal treatments that could potentially improve neurodevelopmental outcomes in these affected children.
A Novel imaging technology with Fetal MRIs for 3-D Images of the Brain
Clearer and more accurate than ultrasound examinations, fetal MRI poses no risk to the baby. Fetal MRI technology is used in everyday clinical work as part of advanced obstetrical care such as prenatal diagnosis of fetal brain malformations. Dr. Tarui’s lab will utilize these imaging data for further analysis using an innovative computer software program to reconstruct a three-dimensional image of the brain, allowing them to determine structure, measure volume, calculate shape and analyze surface, curvature and slopes.
By measuring the fetal brain volume – both as a whole and in individual pieces - and reconstructing the brain surface, Dr. Tarui will examine the cerebral cortex, cerebellum which controls intellect and movement, and record any changes in the latter half of the pregnancy.
Fetal gene expression analysis using discarded amniotic fluid samples
Dr. Tarui’s team will also analyze amniotic fluid from women pregnant with fetuses with brain malformations. Amniotic fluid tests are used in everyday clinical work to diagnose fetal genetic anomalies. The left over amniotic fluid sample (supernatant of amniotic fluid) is usually discarded. Using advanced genetic analysis technologies such as whole genome microarrays, researchers can analyze gene expression patterns of the samples to determine which genes are turned on or off in living fetuses with brain malformations.
By examining specific changes in gene expression associated with the malformations, Dr. Tarui’s aim is to develop hypotheses for treatments to correct these diseases in affected fetuses in order to potentially improve neurodevelopmental function after these children are born.