For the first time ever, investigators in the Mother Infant Research Institute have demonstrated how to precisely evaluate the brain development of fetuses with Down syndrome while they are still in their mothers’ womb. Pediatric Neurologist and Director of the Fetal Neonatal Neurology Program Tomo Tarui, MD, used state-of-the-art fetal magnetic resonance neuroimaging technology to measure and quantify fetal brain volume and determine the exact point in the pregnancy where brain growth slows in fetuses with Down syndrome. The study, “Quantitative MRI Analysis of Regional Brain Growth in Living Fetuses with Down Syndrome,” was published in the July, 2019 edition of the journal Cerebral Cortex.
“This research may be the first step towards changing the way we care for babies with Down syndrome in utero,” said Dr. Tarui. “New studies to prevent or reduce the abnormal brain development in these babies are already in progress. But precise evaluation of fetal brain development is key to successfully designing and interpreting clinical trials to test the efficacy of these new fetal treatments.”
The study included 10 pregnant women carrying babies with Down syndrome and 12 women with fetuses without a genetic disorder. Each pregnant woman received an MRI between 20 and 35 weeks gestation. The MRIs clearly showed that brain growth began to deviate from a normal developmental pattern in the fetuses with Down syndrome beginning at the 28 week mark and continued for the remainder of the pregnancy.
“I am extremely grateful to the families who participated in this important study. They care about their babies and want to help them and others families like them,” said Dr. Tarui. “We are hopeful that the results of this study will help provide important, personalized information to mothers and families about their baby’s likely needs and functionality, so they can prepare for the necessary treatment and care.”
The study is funded by Jerome Lejeune Foundation and the Eunice Kennedy Shriver National Institute of Child Health and Human Development. Collaborating centers include Boston Children’s Hospital, Long Island Jewish Medical Center, Massachusetts General Hospital and University of Pennsylvania.