688 - Short-and Long-Term Outcomes of Prenatally Diagnosed Cephaloceles by Fetal MRI

Publication Number: 2671.688

Charu Venkatesan, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, United States; Natalie G. Kenter, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, United States; Paul S. Horn, Cincinnati Children's Hospital, Cincinnati, OH, United States; Smruti K. Patel, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, United States; Karin Bierbrauer, University of Cincinnati College of Medicine, Cincinnati, OH, United States; Usha Nagaraj, Cincinnati Children's Hospital Medical Center, cincinnati, OH, United States

Background: Cephalocele is the herniation of intracranial structures through a calvarial defect in varying locations including frontal, parietal, occipital, ethmoid, and vertex bones. Fetal MRI provides detailed evaluation of prenatally diagnosed cephaloceles including location, type of tissue present in the sac and presence of other brain and fetal anomalies. Providers are tasked with discussing potential outcomes with expectant families. There are only a few studies in the literature describing fetal MRI findings and evaluating patient outcomes.

Objective: Assess mortality and neurodevelopmental outcomes in patients with prenatally identified cephaloceles to improve counseling for patients and families.

Design/Methods: This was an IRB-approved, retrospective-cohort study of 63 patients with fetal MRI at Cincinnati Children’s Hospital between 2003 and 2025. Neuroimaging, maternal and infant demographic data, and clinical outcomes were evaluated.

Results: Of 63 patients with fetal imaging, 55 had clinical data available for analysis (28:occipital; 19:parietal; 1:speno-ethmoid; 5:fronto-nasal; 1:vertex; 1:frontal). 9 fetuses had in utero demise (3 miscarriage; 6 terminations of pregnancy (TOP)). Out of 46 live births, 7 died shortly after delivery. 38 patients were admitted to the hospital. 6 patients died during hospitalization and 6 died after discharge. All patients with brainstem and spinal cord present in the sac died. Univariable predictors of demise in patients without brainstem and spinal cord in the sac were: ventricles in sac (OR: 9.0; p=0.005; 95% CI 1.9-41.7), cerebellum in sac (OR: 10.8; p=0.038; 95% CI 1.1-103.1), occipital lobe in sac (OR:11.4; p=0.002; 95% CI 2.4-53.3), systemic fetal anomalies (OR: 5.0; p=0.021; CI: 1.3-19.3) and microcephaly (OR: 8.2; p=0.006; 95% CI 1.8-36.4). Overall, 6.4% had seizures in the NICU, 48.3% required ventriculoperitoneal shunt, 42% required feeding support and 22.6% respiratory support at discharge. Long-term follow-up of survivors showed that 60% had normal ambulation, 42% had normal language and 24% developed epilepsy.

Conclusion(s): Overall, mortality was high (51%). Presence of brainstem, spinal cord, ventricles, occipital lobe and cerebellum in the cephalocele sac, additional systemic anomalies and microcephaly are predictors of demise and can aid in counseling and delivery planning.