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

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 f 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.

Automated summary

Down syndrome is the most common genetic cause of developmental disabilities, and there is a growing interest in analyzing brains from living fetuses with DS due to the impact of genetic factors on early fetal brain development. The study demonstrates that variations in regional sulcal depth in DS fetuses may be a sensitive marker for detecting alterations of cortical development and may be associated with later neurocognitive impairment.