Quantitative MRI Analyses of Regional Brain Growth in Living Fetuses with Down Syndrome
Open accessAbstract
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.
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Gross anatomical differences in brain structure are apparent in fetal and neonatal brains of individuals with Down syndrome, including reductions in overall brain volume, white matter volume, gyral complexity, sulcal depth and growth of the cortical plate.
“Gross anatomical differences in brain structure are apparent in the fetal and neonatal brains of individuals with DS, including reductions in overall brain volume, white matter volume, gyral complexity, sulcal depth and growth of the cortical plate6,8–15.”
From Consequences of trisomy 21 for brain development in Down syndrome (2024) · cites this paper as [13]
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Experimental — accuracy not yet measuredFetal brain MRIs show that the cortical plate, subcortical parenchyma, and cerebellar hemispheres have significantly decreased growth trajectories in fetuses with Down syndrome compared to typically developing controls beginning at 28 weeks of gestation.
“Analysis of fetal brain MRIs show that the cortical plate, subcortical parenchyma, and cerebellar hemispheres have significantly decreased growth trajectories in fetuses with DS compared to typically developing controls beginning at 28 weeks of gestation (Tarui et al., 2020).”
From Neurodevelopment in Down syndrome: Concordance in humans and models (2022) · cites this paper as Tarui et al., 2020
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Cites
Olmos-Serrano, J. L., Kang, H. J., Tyler, W. A., Silbereis, J. C., Cheng, F., Zhu, Y., Pletikos, M., Jankovic-Rapan, L., Cramer, N. P., Galdzicki, Z., et al. (2016) · Neuron · doi:10.1016/j.neuron.2016.01.042 · Cited by 239 · cited 1× · see citing works
“Growing evidence of fetal white matter developmental anomalies has been reported in animal models of DS (Olmos-Serrano et al. 2016) and human fetopsy studies (Zdaniuk et al.”
BackgroundQuantitative in vivo MRI measurement of cortical development in the fetus
Clouchoux, C., Kudelski, D., Gholipour, A., Warfield, S. K., Viseur, S., Bouyssi-Kobar, M., Mari, J.-L., Evans, A. C., du Plessis, A. J., & Limperopoulos, C. (2012) · Brain Structure and Function · doi:10.1007/s00429-011-0325-x · Cited by 164 · see citing works
Relationship Between Brain and Cognitive Processes in Down Syndrome
Menghini, D., Costanzo, F., & Vicari, S. (2011) · Behavior Genetics · doi:10.1007/s10519-011-9448-3 · Cited by 101 · see citing works
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Research works printed but not linked: 1
- Kates WR, Folley BS, Lanham DC, Capone GT, Kaufmann WE. 2002. Cerebral growth in Fragile X syndrome: review and com- parison with Down syndrome. Microsc Res Tech. 57:159-167.
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Neurodevelopment in Down syndrome: Concordance in humans and models
Klein, J. A., & Haydar, T. F. (2022) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2022.941855 · Cited by 47 · see citing works
“In particular, the cerebral cortical hemispheres, cerebellum, and hippocampal formations are significantly reduced in size (Wisniewski, 1990; Golden and Hyman, 1994; Kesslak et al., 1994; Raz et al., 1995; Pinter et al., 2001; Tarui et al., 2020; McCann et al., 2021).”
BackgroundShaw, P. R., Klein, J. A., Aziz, N. M., & Haydar, T. F. (2020) · Disease Models & Mechanisms · doi:10.1242/dmm.046243 · Cited by 45 · see citing works
McCann, B., Levman, J., Baumer, N., Lam, M. Y., Shiohama, T., Cogger, L., MacDonald, A., Ijner, P., & Takahashi, E. (2021) · NeuroImage: Clinical · doi:10.1016/j.nicl.2021.102815 · Cited by 30 · see citing works
Consequences of trisomy 21 for brain development in Down syndrome
Russo, M. L., Sousa, A. M. M., & Bhattacharyya, A. (2024) · Nature Reviews Neuroscience · doi:10.1038/s41583-024-00866-2 · Cited by 28 · see citing works
Comprehensive volumetric phenotyping of the neonatal brain in Down syndrome
Fukami-Gartner, A., Baburamani, A. A., Dimitrova, R., Patkee, P. A., Ojinaga-Alfageme, O., Bonthrone, A. F., Cromb, D., Uus, A. U., Counsell, S. J., Hajnal, J. V., et al. (2023) · Cerebral Cortex · doi:10.1093/cercor/bhad171 · Cited by 24 · see citing works
Ishihara, K. (2021) · Genes · doi:10.3390/genes12101598 · Cited by 8 · see citing works
- Authors
- Tarui, T., Im, K., Madan, N., Madankumar, R., Skotko, B. G., Schwartz, A., Sharr, C., Ralston, S. J., Kitano, R., Akiyama, S., Yun, H. J., Grant, E., & Bianchi, D. W.
- Affiliations
- Tufts Medical Center (US)
- Boston Children's Hospital (US)
- Northwell Health (US)
- Massachusetts General Hospital (US)
- University of Pennsylvania (US)
- Fetal-Neonatal Neuroimaging and Developmental Science Center, Division of Newborn Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA
- National Institutes of Health (US)
- Corresponding author
- Tarui, Tomo
- ORCID
- Venue
- Cerebral Cortex
- Publisher
- Oxford University Press (OUP)
- Published
- 2019-07-02
- Volume
- 30
- Issue
- 1
- Pages
- 382-390
- ISSN
- 1047-3211 (ISSN-L)
- 1460-2199
- PMC
- PMC7029684
- OpenAlex
- W2953564012
- Cited by
- 50
- References
- 3
- Citations by year
- 2026: 6 · 2025: 10 · 2024: 9 · 2023: 4 · 2022: 9 · 2021: 7 · 2020: 4 · 2019: 1
- FWCI
- 4.83
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- academic.oup.com/journals/pages/open_access/funder_policies/chorus/standard_publication_model (vor)
- Locations
- Cerebral Cortex (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institutes of Health (R21HD083956, K23HD079605)
- Topics
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Fetal and Pediatric Neurological Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- Down syndrome, fetal brain development, fetal brain MRI, brain volumetry, growth curves, cortical plate, cerebellar hemispheres, intellectual disability
- MeSH terms
- Brain, Brain Mapping, Down Syndrome, Gestational Age, Humans, Magnetic Resonance Imaging, Prenatal Diagnosis, Fetal Development
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