Regional Alterations in Cortical Sulcal Depth in Living Fetuses with down Syndrome

Hyuk Jin Yun, Juan David Ruiz Perez, Patricia Sosa, J. Alejandro Valdés, Neel Madan, Rie Kitano, Shizuko Akiyama, Brian G. Skotko, Henry A. Feldman, Diana W. Bianchi, P. Ellen Grant, Tomo Tarui, Kiho Im

Research output: Contribution to journalArticlepeer-review

13 Citations (Scopus)


Down syndrome (DS) is the most common genetic cause of developmental disabilities. Advanced analysis of brain magnetic resonance imaging (MRI) has been used to find brain abnormalities and their relationship to neurocognitive impairments in children and adolescents with DS. Because genetic factors affect brain development in early fetal life, there is a growing interest in analyzing brains from living fetuses with DS. In this study, we investigated regional sulcal folding depth as well as global cortical gyrification from fetal brain MRIs. Nine fetuses with DS (29.1 ± 4.24 gestational weeks [mean ± standard deviation]) were compared with 17 typically developing [TD] fetuses (28.4 ± 3.44). Fetuses with DS showed lower whole-brain average sulcal depths and gyrification index than TD fetuses. Significant decreases in sulcal depth were found in bilateral Sylvian fissures and right central and parieto-occipital sulci. On the other hand, significantly increased sulcal depth was shown in the left superior temporal sulcus, which is related to atypical hemispheric asymmetry of cortical folding. Moreover, these group differences increased as gestation progressed. This study demonstrates that regional sulcal depth is a sensitive marker for detecting alterations of cortical development in DS during fetal life, which may be associated with later neurocognitive impairment.

Original languageEnglish
Pages (from-to)757-767
Number of pages11
JournalCerebral Cortex
Issue number2
Publication statusPublished - 2021 Feb 1


  • Down syndrome
  • cortical folding
  • fetal brain
  • magnetic resonance imaging
  • sulcal depth


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