Biometric magnetic resonance imaging analysis of fetal brain development in Down syndrome

Author:

Kitano Rie1,Madan Neel2,Mikami Takahisa3,Madankumar Rajeevi4,Skotko Brian G.56ORCID,Santoro Stephanie56,Ralston Steven J.7,Bianchi Diana W.8ORCID,Tarui Tomo910ORCID

Affiliation:

1. Obstetrics and Gynecology Tsuchiura Kyodo General Hospital Tsuchiura Japan

2. Radiology Tufts Medical Center Boston Massachusetts USA

3. Department of Neurology Tufts Medical Center Boston Massachusetts USA

4. Obstetrics and Gynecology Long Island Jewish Medical Center New Hyde Park New York USA

5. Down Syndrome Program Division of Medical Genetics and Metabolism Department of Pediatrics Massachusetts General Hospital Boston Massachusetts USA

6. Department of Pediatrics Harvard Medical School Boston Massachusetts USA

7. Obstetrics and Gynecology The University of Maryland Baltimore Maryland USA

8. Section on Prenatal Genomics and Fetal Therapy Center for Precision Health Research National Human Genome Research Institute National Institutes of Health Bethesda Maryland USA

9. Mother Infant Research Institute Tufts Medical Center Boston Massachusetts USA

10. Pediatric Neurology Hasbro Children's Hospital Providence Rhode Island USA

Abstract

AbstractObjectivesTo assess brain development in living fetuses with Down syndrome (DS) by biometric measurements on fetal brain magnetic resonance images (MRI).MethodsWe scanned 10 MRIs of fetuses with confirmed trisomy 21 at birth and 12 control fetal MRIs without any detected anomalies. Fetal brain MRIs were analyzed using 14 fetal brain and skull biometric parameters. We compared measures between DS and controls in both raw MRIs and motion‐corrected and anterior‐posterior commissure‐aligned images.ResultsIn the reconstructed images, the measured values of the height of the cerebellar vermis (HV) and anteroposterior diameter of the cerebellar vermis (APDV) were significantly smaller, and the anteroposterior diameter of the fourth ventricle (APDF) was significantly larger in fetuses with DS than controls. In the raw MRIs, the measured values of the right lateral ventricle were significantly larger in fetuses with DS than in controls. Logistic regression analyses revealed that a new parameter, the cerebellar‐to‐fourth‐ventricle ratio (i.e., (APDV * Height of the vermis)/APDF), was significantly smaller in fetuses with DS than controls and was the most predictive to distinguish between fetuses with DS and controls.ConclusionsThe study revealed that fetuses with DS have smaller cerebellums and larger fourth ventricles compared to the controls.

Funder

Eunice Kennedy Shriver National Institute of Child Health and Human Development

Fondation Jérôme Lejeune

Publisher

Wiley

Subject

Genetics (clinical),Obstetrics and Gynecology

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