Early alterations in cortical and cerebellar regional brain growth in Down Syndrome: An in-vivo fetal and neonatal MRI assessment

Abstract

Down Syndrome (DS) is the most frequent genetic cause of intellectual disability with a wide spectrum of neurodevelopmental outcomes. At present, the relationship between structural brain morphology and the spectrum of cognitive phenotypes in DS, is not well understood. This study aimed to quantify development of the fetal and neonatal brain in DS using dedicated, optimised and motion-corrected invivo magnetic resonance imaging (MRI). We detected deviations in development and altered regional brain growth in the fetus with DS from 21 weeks' gestation, when compared to age-matched controls.Reduced cerebellar volume was apparent in the second trimester with significant alteration in cortical growth becoming evident during the third trimester. Developmental abnormalities in the cortex and cerebellum are likely substrates for later neurocognitive impairment, and ongoing studies will allow us to confirm the role of antenatal MRI as an early biomarker for subsequent cognitive ability in DS. In the era of rapidly developing technologies, it is hoped that the results of this study will assist counselling for prospective parents.

Biometric assessments of the posterior fossa by fetal MRI: A systematic review

“…A total of 804 studies were initially screened and 59 publications were included in the final systematic review 4,5,7,15‐69 (Figure 1) (Table S1). Separate publications with duplicated data from those included were assessed 51,70‐80 …”

“…Four studies showed measurements of the PF correlated with a diagnosis of more systemic abnormalities compared to controls – congenital heart disease, 51 Down syndrome 66 and fetuses small for GA 33,43 …”