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de Zwarte, S. M.

Publications and source records attributed to de Zwarte, S. M..

3 recordsLinked to original sources

Automated segmentation of fetal intracranial volume in 3D ultrasound using deep learning: identifying sex differences in prenatal brain development

The human brain undergoes major developmental changes during pregnancy. Three-dimensional (3D) ultrasound images allow for the opportunity to investigate typical prenatal brain development on a large scale. Here, we developed a convolutional neural network (CNN) model for automated segmentation of fetal intracranial volume (ICV) from 3D ultrasound, and we applied the trained model in a large independent sample (N = 9795 ultrasounds; N=1763 participants) from the YOUth Baby and Child cohort measured at 20- and 30-week of gestational age to investigate sex differences in fetal ICV and ICV growth. 168 3D ultrasound images with ICV annotations were included to develop a 3D CNN model for automated fetal ICV segmentation. A data augmentation strategy provided physical variation and additional data to train the network. K-fold cross-validation and Bayesian optimization were used for network selection and the ensemble-based system combined multiple networks to form the final ensemble network. The final ensemble network produced consistent and high-quality segmentations of ICV. Our trained model successfully predicted ICV and ICV growth in a large independent longitudinal data set. Boys had significantly larger ICV at 20- (B=2.83; p=1.4e-13) and 30-weeks of pregnancy (B=12.01; p=2.0e-28), and more pronounced ICV growth than girls (t=-4.395; p=1.3e-5). Our approach provides us with the opportunity to investigate fetal brain development on a much larger scale and to answer fundamental questions related to prenatal brain development.

neuroscience↗

Dynamics of Brain Structure and its Genetic Architecture over the Lifespan

Human brain structure changes throughout our lives. Altered brain growth or rates of decline are implicated in a vast range of psychiatric, developmental, and neurodegenerative diseases. Here, we identified common genetic variants that affect rates of brain growth or atrophy, in the first genome-wide association meta-analysis of changes in brain morphology across the lifespan. Longitudinal MRI data from 15,640 individuals were used to compute rates of change for 15 brain structures. The most robustly identified genes GPR139, DACH1 and APOE are associated with metabolic processes. We demonstrate global genetic overlap with depression, schizophrenia, cognitive functioning, insomnia, height, body mass index and smoking. Gene-set findings implicate both early brain development and neurodegenerative processes in the rates of brain changes. Identifying variants involved in structural brain changes may help to determine biological pathways underlying optimal and dysfunctional brain development and ageing.

genetics↗

The genetic architecture of the human cerebral cortex

The cerebral cortex underlies our complex cognitive capabilities, yet we know little about the specific genetic loci influencing human cortical structure. To identify genetic variants, including structural variants, impacting cortical structure, we conducted a genome-wide association meta-analysis of brain MRI data from 51,662 individuals. We analysed the surface area and average thickness of the whole cortex and 34 regions with known functional specialisations. We identified 255 nominally significant loci (P [≤] 5 x 10-8); 199 survived multiple testing correction (P [≤] 8.3 x 10-10; 187 surface area; 12 thickness). We found significant enrichment for loci influencing total surface area within regulatory elements active during prenatal cortical development, supporting the radial unit hypothesis. Loci impacting regional surface area cluster near genes in Wnt signalling pathways, known to influence progenitor expansion and areal identity. Variation in cortical structure is genetically correlated with cognitive function, Parkinsons disease, insomnia, depression and ADHD.\n\nOne Sentence SummaryCommon genetic variation is associated with inter-individual variation in the structure of the human cortex, both globally and within specific regions, and is shared with genetic risk factors for some neuropsychiatric disorders.

genetics↗