Rakhee Kisan Sansgiri MBBS, DMRD, Presenter: Nothing to Disclose

Deborah Levine MD, Abstract Co-Author: Consultant, SafeMed Inc, San Diego, CA

Danielle Pier, Abstract Co-Author: Nothing to Disclose

Judy Ann Estroff MD, Abstract Co-Author: Nothing to Disclose

Richard L. Robertson MD, Abstract Co-Author: Nothing to Disclose

Caroline Diana Robson MBChB, Abstract Co-Author: Consultant, Amirsys, Inc

Carol Elizabeth Barnewolt MD, Abstract Co-Author: Nothing to Disclose

Tina Young Poussaint MD, Abstract Co-Author: Nothing to Disclose

Tejas S. Mehta MD, Abstract Co-Author: Nothing to Disclose

00030490-DMT et al, Abstract Co-Author: Nothing to Disclose

To assess the outcome of prenatal septal dysplasia diagnosis in a population of  fetuses referred for ventriculomegaly (VM).

In a prospective study of fetuses undergoing US and MR for VM over a 5 year period, images were reviewed by 6 radiologists (3 US readers and 4 MR readers, 1 of whom also read the US) for prenatal septal leaflet dysplasia (septo optic dysplasia, agenesis of septum pellucidum or defect in septum pellucidum).Cases coded as holoprosencephaly or complete corpus callosal agenesis were excluded.Consensus diagnosis and postnatal follow up were recorded.  

Of 425 fetuses,20 were coded by at least 1 reader for abnormal septal leaflets.Gestational age ranged from 20-36 wks (mean=28 wks).14/20 and 20/20 had at least 1 reader code septal dysplasia on US and MR, respectively.10/20,18/20, and 9/20 had final US, MR, and combined US/MR consensus for septal dysplasia, respectively. 11/20 had termination of pregnancies and 1 died at 1 week of life.10/12 with demise had additional findings including porencephaly(N=4), myelomeningocele(N=3), cerebellar hypoplasia(N=3), and 1 case each of encephalocele, arachnoid cyst, hemorrhage, schizencephaly and micropthalmia. Autopsy was performed in 7. 5 had tissue insufficient for diagnosis, 1 had confirmation of septooptic dysplasia, and 1 had an encephalocele without comment on septal leaflets. Of 8 survivors, 3 had additional prenatal imaging findings (migrational abnormalities in 2 and cerebellar hypoplasia and small brainstem in 1).7 had follow up postnatal imaging on which 5 cases were confirmed to be have septal dysplasia (3 of these had prenatal consensus diagnosis),1had a large cavum septum pellucidum, and 1 had hypoplasia of the corpus callosum.Of the 5 with postnatal septal dysplasia, additional findings were present in 3, including schizencephaly, neuronal heterotopia, hypoplasia of the corpus callosum, polymicrogyria, and hypoplastic optic nerves.3/5 with documented septal dysplasia had follow-up, 1 with hypotonia, 1 with mild and 1 with severe developmental delay.  

There is considerable variability in prenatal diagnosis of septal leaflet dysplasia.Additional severe CNS anomalies are commonly present in association with this finding.

Severe CNS anomalies are commonly present in association with the finding of septal dysplasia. The majority of cases are confirmed on postnatal imaging.

Sansgiri, R, Levine, D, Pier, D, Estroff, J, Robertson, R, Robson, C, Barnewolt, C, Poussaint, T, Mehta, T, et al, 0, Outcome in Fetuses with Ventriculomegaly and Septal Leaflet Dysplasia.  Radiological Society of North America 2009 Scientific Assembly and Annual Meeting, November 29 - December 4, 2009 ,Chicago IL. http://archive.rsna.org/2009/8011158.html