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Spectrum of Fetal Intraparenchymal Hemorrhage in COL4A1/A2-Related Disorders

Elizabeth George1, Rachel Vassar2, Andrew Mogga3

  • 1Department of Radiology and Biomedical Imaging, University of California San Francisco, San Francisco, California.

Pediatric Neurology
|August 10, 2023
PubMed

Insights

Genetic variants in COL4A1/A2 cause fetal intracranial hemorrhage (IPH). Fetal MRI reveals a spectrum of IPH, suggesting genetic testing for COL4A1/A2 variants in all fetal IPH cases.

Area of Science:

  • Neuroimaging
  • Genetics
  • Fetal Medicine

Background:

  • COL4A1/A2 variants are linked to fetal and neonatal intracranial hemorrhage (IPH), porencephaly, and schizencephaly.
  • Fetal magnetic resonance imaging (MRI) findings in these disorders are not well-documented.

Purpose of the Study:

  • To characterize fetal MRI findings in patients with intraparenchymal hemorrhage (IPH) and COL4A1/A2 variants.
  • To assess the spectrum of IPH presentation and its correlation with clinical outcomes.

Main Methods:

  • Retrospective case series of eight patients with fetal IPH and COL4A1/A2 variants.
  • Inclusion of postnatal imaging and clinical follow-up for five patients.

Main Results:

  • Multifocal and bilateral IPH observed in four of eight patients, involving frontal lobes (all cases) and basal ganglia (six of eight).
  • Median IPH diameter was 16 mm; all patients had ventriculomegaly, and four had intraventricular hemorrhage.
  • Prenatal IPH size correlated with motor outcomes; no recurrent hemorrhages were noted.

Conclusions:

  • COL4A1/A2 variants present with a wide spectrum of prenatal IPH, from unifocal to multifocal and bilateral.
  • Fetal brain MRI findings highlight the variability in IPH severity.
  • Genetic testing for COL4A1/A2 variants is recommended for all cases of fetal IPH.
Abstract

Keywords:
COL4A1/2Fetal MRIGeneticIntracranial hemorrhageVasculopathy

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