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In utero progression of cephaloceles: prenatal to postnatal analysis
Maria A Punchak1, Sanjana R Salwi1, Sierra D Land2
11Division of Neurosurgery, Department of Surgery, Children's Hospital of Philadelphia.
Insights
Progressive neural herniation in fetal cephaloceles is uncommon. Larger cephalocele sac volume during fetal development predicts an increased risk of herniation. This impacts understanding of cephalocele natural history.
Area of Science:
- Neuroscience
- Developmental Biology
- Medical Imaging
Background:
- Cephaloceles are neural tube defects with poorly understood natural history.
- Understanding fetal cephalocele progression is crucial for prenatal counseling and management.
Purpose of the Study:
- To investigate the natural history of fetal cephaloceles from prenatal diagnosis through the postnatal period.
- To identify factors associated with progressive neural herniation in cephaloceles.
Main Methods:
- Retrospective review of 25 patients with cephaloceles evaluated between 2013 and 2023.
- Prenatal and postnatal MRI for volumetric analysis of neural tissue and sac volume.
- Definition of progressive herniation: ≥5% increase in neural tissue volume or new herniation.
Main Results:
- 24% of patients (6/25) showed progressive cephalocele herniation.
- Cephalocele sac volume at fetal imaging predicted progressive herniation (multivariate analysis).
- Ventriculomegaly occurred in 44%, with 56% requiring CSF diversion.
Conclusions:
- Progressive neural herniation is not a common outcome in fetal cephaloceles.
- Cephalocele sac volume is a significant predictor of progressive herniation risk.
Objective:
The natural history of cephaloceles is not well understood. The goal of this study was to better understand the natural history of fetal cephaloceles from prenatal diagnosis to the postnatal period.
Methods:
Between January 2013 and April 2023, all patients evaluated with a cephalocele at the Center for Fetal Diagnosis and Treatment were identified. All patients underwent prenatal and postnatal MRI. Demographic and imaging covariates were obtained from the electronic medical record. Volumetric analyses were performed to determine the percentage of neural tissue within the cephalocele. Progressive herniation was defined as an increase in cephalocele absolute neural tissue volume ≥ 5% or new herniation of an additional intracranial structure into the cephalocele.
Results:
A total of 25 patients met the inclusion criteria. Of these patients, 6 (24%) exhibited progressive cephalocele herniation from the prenatal to postnatal MRI. The median sac volume was 2.2 mL (mean 6.2 mL, range 0.3-40.5 mL). The median change in brain volume in the patients with cephalocele progression was a decrease of 1.5% (mean -7.3%, range -36.4% to 3.1%). Cephalocele sac volume at the time of fetal imaging was predictive of progressive herniation, which persisted on multivariate analysis when controlling for gestational age, sex, and percentage of herniated neural tissue. While 44% of the patients had ventriculomegaly, 56% ultimately required permanent CSF diversion.
Conclusions:
Progressive neural herniation from the fetal to postnatal period is not commonly seen in fetal cephaloceles. Sac volume is associated with an increased risk of progressive herniation into the cephalocele.
