Prenatal Neurological Diagnosis: Challenges in Neuroimaging, Prognostic Counseling, and Prediction of Neurodevelopmental Outcomes

Pediatr Neurol. 2023 May:142:60-67. doi: 10.1016/j.pediatrneurol.2023.02.013. Epub 2023 Feb 24.

Abstract

Prenatal diagnosis of fetal brain abnormalities is rapidly evolving with the advancement of neuroimaging techniques, thus adding value to prognostic counseling and perinatal management. However, challenges and uncertainties persist in prenatal counseling due to limitations of prenatal imaging, continued development and maturation of the brain structure, and the heterogeneity and paucity of outcome studies. This topical review of fetal neurological consultations highlights prenatally diagnosed brain abnormalities that challenged prognostic counseling and perinatal management. Representative cases across multiple centers that highlighted diagnostic challenges were selected. Charts were reviewed for neuroimaging, genetic evaluation, prenatal prognostic discussion, postnatal imaging and testing, and infant outcome. We present case studies with prenatal and postnatal information discussing prenatal testing, fetal MRI interpretation, and complexities in the prognostic counseling process. Advocating for large-scale multicenter studies and a national collaborative fetal neurological registry to help guide the ever-expanding world of prenatal diagnostics and prognostic counseling is critical to this field. Study of large-scale outcomes data from such a registry can better guide fetal neurological consultations and facilitate comprehensive multidisciplinary planning and program development for educational curriculum for fetal-neonatal neurology.

Keywords: Brain; Counseling; Fetal; Malformation; Outcomes.

Publication types

  • Review

MeSH terms

  • Brain Diseases*
  • Counseling
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Magnetic Resonance Imaging
  • Nervous System Malformations*
  • Neuroimaging
  • Pregnancy
  • Prenatal Diagnosis / methods
  • Prognosis
  • Retrospective Studies
  • Ultrasonography, Prenatal