Agenesis of the septum pellucidum: Prenatal diagnosis and outcome

Abstract

Objective: The purpose of this study is to describe the imaging findings in a group of fetuses with suspected agenesis of the septum pellucidum (ASP) and to evaluate their clinical outcome.Methods: This is a retrospective multicenter study on a cohort of fetuses diagnosed with suspected ASP, between 2008 and 2017. The records of each patient, including ultrasound (US) and magnetic resonance studies, were reviewed and compared with the postnatal findings.Results: Forty-seven patients were included in the study at a mean gestational age of 26.6 weeks. In 17 patients, the ASP was considered isolated. Fourteen patients delivered live-born, and all 14 are developing normally. Three were lost to follow-up.Twenty-four patients had associated malformations involving the central nervous system (CNS); 13 were delivered (normal development [5], abnormal [6] and no follow-up [2]). Nine patients opted for termination, and two pregnancies were lost to follow-up.Six patients had non-CNS associated findings, two were delivered with normal neurological development and four had a termination.Conclusions: Isolated ASP is usually associated with a favorable outcome; but in the presence of associated malformations, there is at least a 50% risk of abnormal development. Current imaging techniques can provide an accurate prognosis in cases when ASP appears isolated.

Isolated Agenesis of Septum Pellucidum and Adult-Onset Seizure Tendency With Eye Closure Sensitivity

“…ASP is not typically seen as an isolated finding. Borkowski‐Tillman et al found that ASP can occur isolated or in combination with other developmental abnormalities such as corpus callosum agenesis, schizencephaly, holoprosencephaly, and ventriculomegaly [ 2 ]. Isolated ASP is associated with a favorable outcome but that ASP associated with other central nervous system findings can predispose to a high risk of abnormal neurodevelopment [ 2 ].…”

“…Borkowski‐Tillman et al found that ASP can occur isolated or in combination with other developmental abnormalities such as corpus callosum agenesis, schizencephaly, holoprosencephaly, and ventriculomegaly [ 2 ]. Isolated ASP is associated with a favorable outcome but that ASP associated with other central nervous system findings can predispose to a high risk of abnormal neurodevelopment [ 2 ]. Secondary, or acquired, causes of ASP are frequently due to long-standing hydrocephalus secondary to leptomeningitis, trauma, and porencephaly [ 1 ].…”

“…Developmentally it forms from the lamina terminalis from 12th to 17th weeks of gestation during the process of corpus callosum and forebrain formation [ 1 ]. Agenesis of septum pellucidum (ASP) is regarded as a spectrum of maldevelopment of forebrain structures, which is frequently associated with septo-optic dysplasia (SOD) that consists of a triad of midline brain defects, optic nerve hypoplasia, and hypopituitarism [ 1 , 2 ]. We report an adult patient with isolated ASP that presented with new-onset seizure accompanied by abnormal electro-encephalogram (EEG) findings.…”

Prenatal diagnosis and outcome of fetuses with isolated agenesis of septum pellucidum: cohort study and meta‐analysis

“…Two studies have demonstrated evidence that optic tract diameter increases linearly throughout gestation and provided reference ranges 9,12 ; in these two studies, a total of 14 fetuses were diagnosed with isolated ASP based on US examination of the optic pathways. Among these cases, all nine children from the series of Bault et al 9 had good ophthalmological outcome with normal vision, while all five children from the series of Vi ñals et al 12 17 Bault (2011) 9 Shinar (2020) 20 Borkowski-Tillman (2020) 21 Present study (2022) Combined 0.19 (0.04-0.46) 0.00 (0.00-0.37) 0.38 (0.09-0.76) 0.00 (0.00-0.23) 0.00 (0.00-0.23) 0.09 (0.01-0.24)…”

Evaluación del cerebro fetal: nuevas herramienta

“…Esta evaluación cualitativa rápida aporta importante información sobre la existencia de al menos una porción del cuerpo calloso, y la simetría del sistema ventricular y de la zona periventricular, que puede ser asiento de patología del desarrollo cortical, hemorrágica o infecciosa (18,19) . Todo esto lo posiciona como una herramienta con potencial para la detección de holoprosencefalia (20,21) , anomalías comisurales (agenesia completa del cuerpo calloso, displasia septo-preóptica) (22)(23)(24)(25)(26)(27)(28) , esquisencefalia (29) y barotrauma (ventriculomegalia obstructiva) (30,31) .…”