Oral or Poster Presentation
Concurrent Session 4D - Maternal Fetal Medicine
Introduction: Long-term postnatal outcomes of fetuses with prenatally suspected septo-optic dysplasia (SOD) have been poorly documented. Our aims were to describe the natural history of prenatally suspected SOD, to quantify the incidence of postnatally confirmed SOD, and to document the long-term visual, endocrine and neurodevelopmental outcomes of these infants.
Methods: We conducted an observational retrospective study of all fetuses with prenatally suspected isolated SOD, assessed at a single tertiary centre over a 10-year period. Pregnancy, delivery, pre- and postnatal imaging and neonatal outcomes were reviewed for clinical confirmation of SOD. Long-term ophthalmologic, endocrine, developmental and genetic evaluations were assessed.
Results: Of 214 fetuses presenting with absence of the cavum septum pellucidum, 18 (8.4%) were classified prenatally as suspected isolated SOD. Prenatal MRI findings uniform to all cases included remnants of the septal leaflets of the cavum, fused forniceal columns, normal olfactory bulbs and tracts and a normal optic chiasm. Twelve fetuses were liveborn and five (27.8%) had postnatally confirmed SOD. No predictive prenatal or postnatal imaging findings reliably differentiated between infants with and without postnatally confirmed SOD. At a median follow-up of 2.5 (2.5,7) years, visual and endocrine impairment were present in 2 (40%) and 4 (80%) cases, respectively. Developmental delay was common (80%) and mostly severe. All seven neonates with an absent cavum septum pellucidum but non-confirmed SOD had normal development.
Conclusion: Only a quarter of individuals with prenatally suspected SOD will have postnatal confirmation of the diagnosis. Clinical manifestations in children with confirmed SOD are variable, but neurodevelopmental delay may be more prevalent than formerly thought.