27 statements
· 1 topic
· summaries given as host listed separately
Featured statements
▶Ep 1 · 2:00
By the time patients with congenital aqueductal stenosis come to a fetal care center, their ventricular measurements are typically in the moderate or severe range.
All to say, if you have isolated CAS you have very favorable motor outcome, and this is a very important counseling piece that we can provide to families.
2024 Fetal Care Center Frontiers in Fetal Neurology Day 1 - Dr. Charu Venkatesen
▶Ep 1 · 0:00
clinicalCongenital aqueductal stenosis on MRI is defined by a thin corpus callosum, thickened tectum, fluid through the aqueduct not seen all the way through with narrowing and obstruction at the inferior portion of the aqueduct, and a large third ventricular recess.↗
▶Ep 1 · 0:00
quoteI do wanna say many of the themes that I want to highlight in this talk apply not just for this diagnosis, but also to many of the neurological conditions that we see um in the fetal period.↗
▶Ep 1 · 0:00
epidemiologicalVentriculomegaly is the most common CNS abnormality identified on fetal imaging.↗
▶Ep 1 · 0:00
clinicalFetal ventriculomegaly is measured at the atrium of the lateral ventricles, with anything larger than 10 millimeters considered abnormal: 10-12mm is mild, 12.1-15mm is moderate, and over 15mm is severe.↗
▶Ep 1 · 0:00
clinicalBy the time patients with congenital aqueductal stenosis come to a fetal care center, their ventricular measurements are typically in the moderate or severe range.↗
▶Ep 1 · 2:00
quoteBy the time patients with congenital aqueductal stenosis come to a fetal care center, their ventricular measurements are typically in the moderate or severe range.↗
▶Ep 1 · 3:00
clinicalCongenital aqueductal stenosis etiology can be acquired (intrinsic obstruction from post-hemorrhagic insult or infection causing gliosis, or extrinsic compression from a mass) or due to genetic disorders including L1CAM mutation, rhombencephalosynapsis, and distroglycanopathies such as Walker-Warburg syndrome.↗
▶Ep 1 · 3:00
epidemiologicalThe incidence of congenital aqueductal stenosis ranges from 0.5 to 1 per 1000 births.↗
▶Ep 1 · 5:40
quoteSo with these broad range of numbers that are reported in the literature, this is quite challenging, and the question becomes, well, how can we improve counseling?↗
▶Ep 1 · 6:00
clinicalNone of the isolated CAS patients were non-ambulatory long-term, whereas 32% of complex CAS patients were non-ambulatory.↗
▶Ep 1 · 6:00
clinicalLong-term epilepsy rates were 56% in complex CAS versus 20% in isolated CAS.↗
▶Ep 1 · 6:00
clinicalLong-term feeding support via gastrostomy tube was required in approximately five times as many complex CAS cases compared to isolated CAS cases.↗
▶Ep 1 · 6:00
opinionIf you have isolated CAS, you have very favorable motor outcome.↗
▶Ep 1 · 6:00
clinicalAt discharge, 63% of complex CAS cases required feeding support versus 29% of isolated CAS cases.↗
▶Ep 1 · 6:00
epidemiologicalIn the Cincinnati study of 140 cases of congenital aqueductal stenosis identified by fetal MRI, 16% had early demise (termination or fetal demise), 3% were lost to follow-up, and 113 were live births.↗
▶Ep 1 · 6:00
epidemiologicalOf 113 live births in the Cincinnati CAS study, 11% died prior to hospital discharge and 8% were lost to follow-up, leaving short-term neurodevelopmental data available for 86 patients.↗
▶Ep 1 · 6:00
clinicalIsolated congenital aqueductal stenosis is defined as CAS being the only anomaly on imaging with no other intra or extracranial findings, while complex CAS includes any accompanying intra or extracranial anomalies or genetic abnormalities.↗
▶Ep 1 · 6:00
clinicalAt time of discharge in the Cincinnati study, 95% of complex CAS cases required CSF diversion (all via ventriculoperitoneal shunt) versus 70% of isolated CAS cases.↗
▶Ep 1 · 6:00
clinicalThere were no differences between isolated and complex CAS groups in terms of seizures or respiratory support at discharge.↗
▶Ep 1 · 6:00
clinicalFor long-term motor outcomes, 93% of isolated CAS patients were fully ambulatory versus 44% of complex CAS patients.↗
▶Ep 1 · 8:20
quoteAll to say, if you have isolated CAS you have very favorable motor outcome, and this is a very important counseling piece that we can provide to families.↗
▶Ep 1 · 9:00
quoteWe tend to operate in silos oftentimes, and for a field like fetal neurology, where we are, really have so many touch points, collaboration is quite important.↗
▶Ep 1 · 9:00
opinionInternational registries are needed for congenital aqueductal stenosis and other rare prenatally identified neurological conditions to accumulate hundreds to thousands of patients.↗
▶Ep 1 · 9:00
opinionMany prenatally identified neurological conditions including agenesis of the corpus callosum and vermian hypoplasia can be categorized as isolated or complex, but complex is a very heterogeneous category requiring better genotype-phenotype characterization.↗
▶Ep 1 · 9:00
opinionLongitudinal studies are needed to characterize the adult-lived experience beyond age 10, including patient and family-defined outcomes such as stressors on families, perception of pain, quality of life, and independence.↗
▶Ep 1 · 9:00
opinionMore studies are needed examining postnatal and fetal interventions to improve outcome in congenital aqueductal stenosis.↗
▶Ep 1 · 9:40
quoteThese are rare conditions. Um, and as you saw, you know, we have 140 patients that we pulled and trying to get data, but we need hundreds and thousands of patients, and that can only be accomplished through collaboration with larger patient data sets.↗
Summaries Charu gave as host
· 3 summaries
Recaps of other experts' statements, not Charu's own clinical position.
Summaries Charu gave as host · Congenital Aqueductal Stenosis3 summaries
2024 Fetal Care Center Frontiers in Fetal Neurology Day 1 - Dr. Charu Venkatesen
▶Ep 1 · 3:00
host summaryCharu Venkatesen summarizing a resource: In the literature, typical development in congenital aqueductal stenosis is reported to range from 4% to 63%.↗
▶Ep 1 · 3:00
host summaryCharu Venkatesen summarizing a resource: Epilepsy risk in congenital aqueductal stenosis is reported around 50% in the literature.↗
▶Ep 1 · 3:00
host summaryCharu Venkatesen summarizing a resource: In the literature, postnatal mortality for congenital aqueductal stenosis is reported to range from 34 to 68%.↗