Association between Quantitative MR Markers of Cortical Evolving Organization and Gene Expression during Human Prenatal Brain Development

Cereb Cortex. 2021 Jul 5;31(8):3610-3621. doi: 10.1093/cercor/bhab035.


The relationship between structural changes of the cerebral cortex revealed by Magnetic Resonance Imaging (MRI) and gene expression in the human fetal brain has not been explored. In this study, we aimed to test the hypothesis that relative regional thickness (a measure of cortical evolving organization) of fetal cortical compartments (cortical plate [CP] and subplate [SP]) is associated with expression levels of genes with known cortical phenotype. Mean regional SP/CP thickness ratios across age measured on in utero MRI of 25 healthy fetuses (20-33 gestational weeks [GWs]) were correlated with publicly available regional gene expression levels (23-24 GW fetuses). Larger SP/CP thickness ratios (more pronounced cortical evolving organization) was found in perisylvian regions. Furthermore, we found a significant association between SP/CP thickness ratio and expression levels of the FLNA gene (mutated in periventricular heterotopia, congenital heart disease, and vascular malformations). Further work is needed to identify early MRI biomarkers of gene expression that lead to abnormal cortical development.

Keywords: cortical evolving organization; cortical thickness; fetal brain; fetus; gene expression; subplate.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Brain / diagnostic imaging
  • Brain / growth & development*
  • Cerebral Cortex / abnormalities
  • Cerebral Cortex / diagnostic imaging*
  • Cerebral Cortex / embryology*
  • Female
  • Fetus / diagnostic imaging
  • Fetus / metabolism
  • Filamins / genetics
  • Gene Expression / genetics
  • Gene Expression / physiology
  • Gestational Age
  • Head
  • Humans
  • Magnetic Resonance Imaging
  • Malformations of Cortical Development / diagnostic imaging*
  • Nerve Net / diagnostic imaging*
  • Nerve Net / embryology*
  • Nerve Net / metabolism
  • Pregnancy
  • RNA, Messenger / biosynthesis
  • RNA, Messenger / genetics
  • Transcriptome


  • FLNA protein, human
  • Filamins
  • RNA, Messenger