(329) Prenatally Identified Congenital Aqueductal Stenosis: Short- and Long-Term Neurodevelopmental Outcomes

Assess short- and long-term neurodevelopmental outcomes in patients with prenatally identified congenital aqueductal stenosis (CAS) with and without ventricular rupture to improve counseling for patients and families.


Study Design:

This was an IRB-approved, retrospective-cohort study of 140 CAS patients who underwent fetal MRI (87 also received postnatal brain imaging) at Cincinnati Children’s Hospital Medical Center between 2003 and 2023.  Patients were grouped according to etiology and ventricular rupture status. Patients were deemed to have “syndromic CAS” if there was a coexisting diagnosis of a malformation (e.g., rhombencephalosynapsis, Dandy-Walker malformation, etc.) or genetic syndrome (e.g., X-linked hydrocephalus, Walker-Warburg, etc.). Otherwise, they were classified as “isolated CAS.” Patient records were analyzed for metrics such as length of NICU stay, seizures, respiratory and feeding support, speech capabilities, and gross motor function score (GMFCS).


Results:

Of 140 patients with fetal imaging, 18 died in the fetal or immediate neonatal period, and 14 pregnancies were terminated. 108 and 88 patients were available to analyze short- and long-term outcomes, respectively.  The mean age was 7.23 years (range: [1.04, 18.74]) for long-term outcomes. Long-term motor outcomes were not correlated with ventricular rupture. There were no differences when comparing patients with rupture to those without rupture. However, poor motor outcomes were correlated with syndromic CAS with a statistically significant difference (p< .001) in GMFCS compared to isolated CAS; 65.9% of syndromic CAS required assistance with ambulation vs. 6.67% of those with isolated CAS. Similarly, the risk for future epilepsy and the requirement for feeding assistance was significantly increased with syndromic CAS.


Conclusion:

These findings challenge the conventional counseling that ventricular rupture is a reliable predictor of poor prognosis. Instead, distinguishing syndromic from isolated CAS is more fruitful for personalizing treatment and informing care decisions.