Fetal Brain MRI Abnormalities in Pyruvate Dehydrogenase Complex Deficiency.
Olivier FortinKelsey ChristoffelAbdullah B ShoaibCharu VenkatesanKate CilliJason W SchroederCésar Augusto Pinheiro Ferreira AlvesRebecca D GanetzkyJamie L FraserPublished in: Neurology (2024)
Fetuses with PDCD have similar brain MRI findings to neonates described in the literature, although some of these findings are subtle early in pregnancy. Additional features, such as cystic lesions of the GEs, are noted in the second trimester in fetuses with PDCD. These may represent an early diagnostic marker of PDCD, although more data are needed to validate this association. Early diagnosis of PDCD using fetal MRI may inform genetic counseling, pregnancy decision making, and neonatal care planning.
Keyphrases
- contrast enhanced
- preterm birth
- magnetic resonance imaging
- gestational age
- decision making
- diffusion weighted imaging
- pregnancy outcomes
- resting state
- white matter
- healthcare
- systematic review
- low birth weight
- computed tomography
- pregnant women
- functional connectivity
- multiple sclerosis
- cerebral ischemia
- quality improvement
- machine learning
- preterm infants