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Prenatal diagnosis of fetal cephalocele: a sonographic spectrum
1Department of Radiology, Vanderbilt University Medical Center, Nashville, Tennessee 37232-2675.
Insights
This study analyzed 15 fetuses with cephalocele, a neural tube defect. Early diagnosis before 24 weeks significantly influenced management decisions and outcomes, with most families opting for termination.
Area of Science:
- Medical Science
- Fetal Medicine
- Neurology
Background:
- Cephalocele is a congenital neural tube defect characterized by protrusion of the brain and/or meninges through an opening in the skull.
- Accurate prenatal diagnosis is crucial for management and counseling.
Purpose of the Study:
- To report the findings and outcomes of fetuses diagnosed with cephalocele.
- To evaluate the impact of gestational age at diagnosis on management and prognosis.
Main Methods:
- Retrospective analysis of 15 fetal cases diagnosed with cephalocele.
- Review of diagnostic timing, location of the defect, management decisions, and postnatal outcomes.
Main Results:
- Eleven cephaloceles were occipital, two vertex, and two frontonasal.
- Diagnosis before 24 weeks gestation led to termination in nine cases.
- Outcomes varied: one benign meningocele case is normal, one died from cardiac anomalies, one post-24-week diagnosis had successful surgery, two had severe handicaps, and one died postpartum.
Conclusions:
- Gestational age at cephalocele diagnosis is a critical factor in management decisions and fetal prognosis.
- Outcomes for fetuses with cephalocele are highly variable, influenced by defect type, location, and associated anomalies.
Abstract:
We present the findings in a series of 15 fetuses diagnosed as having a cephalocele. Eleven cephaloceles were located in the occipital region and two each at the vertex and the frontonasal region. Eleven fetuses were diagnosed before 24 week's gestation. Nine families opted for an interruption. Of the two fetuses that went to term, one had a benign meningocele and is growing normally at 18 months, the other died in the neonatal period of associated cardiac anomalies. Of the four fetuses diagnosed after 24 weeks, one is normal (after surgery) at 9 months, two are severely handicapped, and one died in the immediate postpartum period.