Down syndrome and fetal ventriculomegaly

Farrell, Sandra A.

doi:10.1002/pd.1970140725

Cited by 7 publications

(3 citation statements)

References 8 publications

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“…2020 ). Hydrocephalus, fetal ventriculomegaly (especially in very low birth weight infants < 1,500 g), and enlargement of the third ventricle, have been reported to occur in DS ( Farrell 1994 ; Schimmel et al. 2006 ; Movsas et al.…”

Section: Discussionmentioning

confidence: 99%

Comprehensive volumetric phenotyping of the neonatal brain in Down syndrome

et al. 2023

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Down syndrome (DS) is the most common genetic cause of intellectual disability with a wide range of neurodevelopmental outcomes. To date, there have been very few in vivo neuroimaging studies of the neonatal brain in DS. In this study we used a cross-sectional sample of 493 preterm- to term-born control neonates from the developing Human Connectome Project to perform normative modeling of regional brain tissue volumes from 32 to 46 weeks postmenstrual age, accounting for sex and age variables. Deviation from the normative mean was quantified in 25 neonates with DS with postnatally confirmed karyotypes from the Early Brain Imaging in DS study. Here, we provide the first comprehensive volumetric phenotyping of the neonatal brain in DS, which is characterized by significantly reduced whole brain, cerebral white matter, and cerebellar volumes; reduced relative frontal and occipital lobar volumes, in contrast with enlarged relative temporal and parietal lobar volumes; enlarged relative deep gray matter volume (particularly the lentiform nuclei); and enlargement of the lateral ventricles, amongst other features. In future, the ability to assess phenotypic severity at the neonatal stage may help guide early interventions and, ultimately, help improve neurodevelopmental outcomes in children with DS.

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Section: Discussionmentioning

confidence: 99%

Comprehensive volumetric phenotyping of the neonatal brain in Down syndrome

et al. 2023

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“…The lateral ventricles were previously found to be enlarged in fetuses from 28 GW onwards 42 . Hydrocephalus 74,75 , ventriculomegaly 76 (especially in very low birth weight infants < 1500g) 77 , and enlargement of the third ventricle 78 have all been noted in small numbers in DS. McCann et al have demonstrated continued enlargement of the lateral ventricles throughout childhood into young adulthood with large effect sizes 30 .…”

Section: I) Several Features Of the Neonatal Brain In Ds Appear To Fo...mentioning

confidence: 99%

Comprehensive volumetric phenotyping of the neonatal brain in Down syndrome

Gartner

Baburamani

Dimitrova

et al. 2022

Preprint

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Down syndrome (DS) is the most common genetic cause of intellectual disability with a wide spectrum of neurodevelopmental outcomes. Magnetic resonance imaging (MRI) has been used to investigate differences in whole and/or regional brain volumes in DS from infancy to adulthood. However, to date, there have been relatively few in vivo neonatal brain imaging studies in DS, despite the presence of clearly identifiable characteristics at birth. Improved understanding of early brain development in DS is needed to assess phenotypic severity and identify appropriate time windows for early intervention. In this study, we used in vivo brain MRI to conduct a comprehensive volumetric phenotyping of the neonatal brain in DS. Using a robust cross-sectional reference sample of close to 500 preterm- to term-born control neonates, we have performed normative modelling and quantified volumetric deviation from the normative mean in 25 individual infants with DS [postmenstrual age at scan, median (range) = 40.57 (32.43 – 45.57) weeks], corrected for sex, age at scan and age from birth. We found that absolute whole brain volume was significantly reduced in neonates with DS (pFDR <0.0001), as were most underlying absolute tissue volumes, except for the lentiform nuclei and the extracerebral cerebrospinal fluid (eCSF), which were not significantly different, and the lateral ventricles, which were significantly enlarged (pFDR <0.0001). Relative volumes, adjusting for underlying differences in whole brain volume, revealed a dynamic shift in brain proportions in neonates with DS. In particular, the cerebellum, as well as the cingulate, frontal, insular and occipital white matter (WM) segments were significantly reduced in proportion (pFDR <0.0001). Conversely, deep grey matter (GM) structures, such as the thalami and lentiform nuclei, as well as CSF-filled compartments, such as the eCSF and the lateral ventricles were significantly enlarged in proportion (pFDR <0.0001). We also observed proportionally reduced frontal and occipital lobar volumes, in contrast with proportionally enlarged temporal and parietal lobar volumes. Lastly, we noted age-related volumetric differences between neonates with and without a congenital heart defect (CHD), indicating that there may be a baseline brain phenotype in neonates with DS, which is further altered in the presence of CHD. In summary, we provide a comprehensive volumetric phenotyping of the neonatal brain in DS and observe many features that appear to follow a developmental continuum, as noted in older age cohorts. There are currently no paediatric longitudinal neuroimaging investigations in DS, starting from the earliest time points, which greatly impedes our understanding of the developmental continuum of neuroanatomical parameters in DS. Whilst life expectancy of individuals with DS has greatly improved over the last few decades, early interventions may be essential to help improve outcomes and quality of life.

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“…[3] The fetal ventriculomegaly can be an isolated feature with no other associated anomaly or it may be associated with various congenital malformations like Arnold Chiari malformation, Dandy walker malformation, Agenesis of corpus callosum or chromosomal anomalies like Downs syndrome. [4] It is important to comprehend that ventriculomegaly is not always associated with macrocephaly and many times fetal head circumference may be within 2 standard deviations of the mean despite the presence of ventriculomegaly. [5] Despite the practical difficulties of doing MRI in a pregnant woman like accessibility, cost and availability of radiologists in reporting fetal MRI it is recommended in cases of fetal ventriculomegaly because of its ability to detect any additional abnormalities, which might give insight into the etiology of the ventriculomegaly as well as neurodevelopmental outcome for the fetus.…”

Section: Introductionmentioning

confidence: 99%

Role Of Magnetic Resonance Imaging in Fetal Ventriculomegaly

Bhosale¹,

Kachare²

2017

AIMDR

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Background: Fetal ventriculomegaly is diagnosed when maximal diameter of the atrium of the lateral ventricles exceeds 10 mm. The overall prevalence of fetal ventriculomegaly ranges between 1-2 per 1000. The etiopathogenesis of fetal ventriculomegaly can be either due to imbalance between production and absorption of CSF or abnormal cerebral development. In addition to these 2 mechanisms destructive disease processes, vascular insults and intrauterine infections can also cause fetal ventriculomegaly. In addition to objectively assessing the severity of fetal ventriculomegaly MRI can also detect structural anomalies, white matter pathologies and destructive lesions affecting fetal brain. This study was performed to evaluate the utility of fetal MRI for prenatal assessment of fetal ventriculomegaly. Aims and Objectives: To evaluate the utility of fetal MRI for prenatal assessment of fetal ventriculomegaly. Methods: This was a prospective cohort study conducted in the department of radio-diagnosis in a tertiary care hospital situated in a metropolitan city over a period of 24 months. All pregnant women who have been referred for fetal MRI after a diagnosis of fetal ventriculomegaly on ultrasound were included in this study. MRI was done using GE 1.5 Tesla TWIN SPEED, HDX MRI machine using predefined protocol. The data was collected on pre-designed study pro forma. The data was entered in Microsoft Excel Program and checked for any inconsistencies. Data was analysed using SPSS 16.0 version. Results: The prevalence of ventriculomegaly was found to be 40% (12 out of 30). Out of this bilateral ventriculomegaly was seen in 8 cases (66.66%) while unilateral ventriculomegaly was seen in 4 cases (33.33%). Isolated ventriculomegaly was seen in 6 cases (50%) while ventriculomegaly was associated with other CNS anomalies in rest (50%). Out of 12 cases with ventriculomegaly 7 patients (58.33%) had mild ventriculomegaly and moderate and severe ventriculomegaly was seen in 3 (25%) and 2 (16.67%) patients respectively. Conclusions: MRI is a valuable imaging modality for the diagnosis of fetal ventriculomegaly. It can reliably diagnose ventriculomegaly as well as any associated abnormalities. It can be further used to decide management and predict the outcome of patients with fetal ventriculomegaly.

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Down syndrome and fetal ventriculomegaly

Cited by 7 publications

References 8 publications

Comprehensive volumetric phenotyping of the neonatal brain in Down syndrome

Comprehensive volumetric phenotyping of the neonatal brain in Down syndrome

Comprehensive volumetric phenotyping of the neonatal brain in Down syndrome

Role Of Magnetic Resonance Imaging in Fetal Ventriculomegaly

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