Quantitative MRI Analyses of Regional Brain Growth in Living Fetuses with down Syndrome

Tomo Tarui, Kiho Im, Neel Madan, Rajeevi Madankumar, Brian G. Skotko, Allie Schwartz, Christianne Sharr, Steven J. Ralston, Rie Kitano, Shizuko Akiyama, Hyuk Jin Yun, Ellen Grant, Diana W. Bianchi

Research output: Contribution to journalArticlepeer-review

16 Citations (Scopus)


Down syndrome (DS) is the most common liveborn autosomal chromosomal anomaly and is a major cause of developmental disability. Atypical brain development and the resulting intellectual disability originate during the fetal period. Perinatal interventions to correct such aberrant development are on the horizon in preclinical studies. However, we lack tools to sensitively measure aberrant structural brain development in living human fetuses with DS. In this study, we aimed to develop safe and precise neuroimaging measures to monitor fetal brain development in DS. We measured growth patterns of regional brain structures in 10 fetal brains with DS (29.1 ± 4.2, weeks of gestation, mean ± SD, range 21.7~35.1) and 12 control fetuses (25.2 ± 5.0, range 18.6~33.3) using regional volumetric analysis of fetal brain MRI. All cases with DS had confirmed karyotypes. We performed non-linear regression models to compare fitted regional growth curves between DS and controls. We found decreased growth trajectories of the cortical plate (P = 0.033), the subcortical parenchyma (P = 0.010), and the cerebellar hemispheres (P < 0.0001) in DS compared to controls. This study provides proof of principle that regional volumetric analysis of fetal brain MRI facilitates successful evaluation of brain development in living fetuses with DS.

Original languageEnglish
Pages (from-to)382-390
Number of pages9
JournalCerebral Cortex
Issue number1
Publication statusPublished - 2020 Jan 1
Externally publishedYes


  • Down syndrome
  • brain development
  • fetal MRI
  • human fetus
  • volumetric analysis

ASJC Scopus subject areas

  • Cognitive Neuroscience
  • Cellular and Molecular Neuroscience


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