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

Fifteen cases of isolated ASP with a median postnatal follow up of 36 months (12-60) were selected from the two Centres. Six studies met the inclusion criteria for the systematic review and a total of 79 cases were eligible for the analysis, including our series. Genetic tests were antenatally carried out in 30 fetuses and turned out to be abnormal in 2 of them (pooled proportion 9.0%; 95% CI 1.8-20.7; I2. 0%). Additional or discordant imaging findings were postnatally noted in 9/70 patients (Pooled proportion 13.7%; 95%CI 3.5-29.0; I2 63.9%); Among the 79 neonates with available follow-up, SOD was postnatally diagnosed in 14 cases (Pooled proportion 19.0%; 95% CI 8.6-32.2; I2 48.0%). In 60 cases Optic nerves or optic tracts were considered to be normal at antenatal imaging; among them, a diagnosis of SOD was carried out in 6 cases (Pooled proportion 9.1%; 95%CI 1.1-24.0; I2 62.0%). Among the 46 infants with available neurological follow-up that were not affected by SOD , a major neurological disability was diagnosed in 3 (pooled proportion 6.5%; 95% CI0.5-18.6; I2 40.1%) CONCLUSION: In the vast majority of cases with apparently isolated ASP the prognosis is favorable. However, additional anomalies are detected after birth in about 10% of these cases and have a negative impact on the clinical outcome. The antenatal visualisation of optic tract does not rule out SOD. This article is protected by copyright. All rights reserved.