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Fetal MRI Research May Lead to Prenatal Treatment for Down Syndrome


Down syndrome, a genetic disorder that is associated with intellectual disability, has no known cure or treatment. At least, not yet. Tomo Tarui, MD, Pediatric Neurologist and Director of the Baby Neurology Program, is working with Diana W. Bianchi, MD, Clinical Geneticist and Executive Director of the Mother Infant Research Institute, on cutting-edge research. Together they are examining the differences in brain development between fetuses with and without Down syndrome, to understand how the brain of a living fetus grows. If successful, their research may lead to the identification of drugs that will treat babies with Down syndrome in the womb, reducing or preventing the damaging effects to the baby’s brain development.

“It is a drastically new concept to consider giving pregnant women medication as potential treatment for their babies during the fetal period,” said Tarui. “If we can learn how the fetal brain develops and changes, we will be much better equipped to evaluate and intervene following a prenatal diagnosis, thereby improving future learning, memory and behavior, particularly in Down syndrome. There is a unique opportunity to rescue a population of brain cells in the fetus with Down syndrome that would otherwise be permanently destroyed by the condition itself.”

To conduct this first-of-its-kind research, Tarui and Bianchi are using the most precise, state-of-the-art neuroimaging techniques in a way they have never been used before: to acquire brain magnetic resonance images (MRIs) of fetuses with Down syndrome. Clearer and more accurate than ultrasound examinations, fetal MRI poses no risk to the baby; a similar technology is used in everyday clinical work as part of advanced obstetrical care. Once the images are captured, the researchers use 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. The software detects subtle changes and corrects for fetal movement to eliminate any fuzziness in the images. By measuring the fetal brain volume – both as a whole and in individual pieces - and reconstructing the brain surface, Tarui and Bianchi can examine the cerebral cortex, which controls intellect, and record any changes in the latter half of the pregnancy.

An Important Supporter

This past December, Tarui and Bianchi received a two-year grant of more than $54,000 from the Jérôme Lejeune Foundation to fund the first-ever examination of brain MRIs of fetuses with Down syndrome in pregnant women who are continuing their pregnancies after genetic diagnosis. Named after the scientist credited with being the first to recognize that the disorder was caused by an extra copy of chromosome 21, the Jérôme Lejeune Foundation is dedicated to improving the lives of people with Down syndrome.

“The grant is especially significant because the Jérôme Lejeune Foundation is completely aligned with our vision that fetal Down syndrome diagnosis is the first step towards finding an effective prenatal treatment,” said Bianchi. “The Foundation recognizes that there is a very real opportunity to positively intervene in the brain development of the fetus to affect subsequent neurocognition. We are grateful for their support.”

Study Details

The study includes 30 pregnant women - 15 carrying fetuses that have been prenatally diagnosed with Down syndrome and 15 carrying fetuses that do not have Down syndrome - matched for the same stage of pregnancy. The pregnant women will undergo MRI examinations at two points during the pregnancy between which the fetal brain drastically changes:  in the second trimester at 22-24 weeks and in the third trimester at the 28-32 weeks. Since brain growth slows early in fetuses with Down syndrome, Tarui and Bianchi will look for differences and changes in the fetal brains with Down syndrome compared to the unaffected fetal brains. The study’s goal is to establish anatomical landmarks for fetal brain development in Down syndrome that can subsequently guide drug treatment in future clinical trials.

To learn more about the Tufts Medical Center approved study (#10214), please contact Tomo Tarui, MD at 617-636-5729 or