VP53.02: Clinical characteristics and outcome of fetal partial agenesis of septum pellucidum

Abstract

Agenesis of septum pellucidum (ASP) has an excellent prognosis when is isolated. Available series in ASP include few cases of the partial ASP (pASP) subgroup, probably because it is a very uncommon and misdiagnosed condition. Thus, our objective was to describe clinical characteristics and outcomes of pSAP. Retrospective study including fetuses diagnosed of pASP in our neurosonography unit from January 2019 to December 2020. Cases secondary to destructive origin were excluded. We collected data from advanced neurosonography and magnetic resonance including gestational age (GA) at diagnose, the evaluation of the optic nerves and chiasma, the presence of associated CNS and non-CNS anomalies and the presence of the pituitary gland. All cases have genetic study with array-CGH. pASP was considered as isolated when no other prenatal findings were detected. Postnatal data included MRI after delivery, evaluation of the visual system, endocrine tests and clinical neurologic follow-up. Seven patients with a prenatal diagnosis of pASP were included. Mean GA at diagnose was 27.2 weeks (range 24.1-30.7). pASP was considered isolated in 4 fetuses and all are developing normally at 13 months (range 8-16). From the three fetuses considered non-isolated, one with other CNS findings (mild ventriculomegaly, cortical maturation delay in operculum area and cerebellar growth in the lower limit) presents delay in language acquisition at 17 months; one with other CNS and non-CNS findings (column fornix fusion, dilatation of anterior horns, short corpus callosum, ARSA and low implantation ears) is considered as SOD spectrum at 12 months; and one with non-CNS findings (unilateral cleft lip and palate) is developing normal at 18 months. pASP has a good prognosis when isolated and the presence of associated findings increases the risk of abnormal neurodevelopment. pASP is an underdiagnosed condition and further research is warranted to explore its incidence and specific prognosis.