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Fetal cephaloceles: diagnosis with US
R B Goldstein1, A S LaPidus, R A Filly
1Department of Radiology, University of California Medical Center, San Francisco 94143-0628.
Radiology
|September 1, 1991
Summary
Prenatal diagnosis of cephaloceles indicates a poor prognosis, with high rates of handicaps and abnormal karyotypes. Associated neural and nonneural anomalies are common, complicating prenatal detection.
Area of Science:
- Medical Imaging
- Fetal Medicine
- Neurology
Background:
- Cephaloceles are neural tube defects with significant associated morbidity.
- Prenatal diagnosis is crucial for management and counseling.
Purpose of the Study:
- To review prenatal sonographic findings in fetuses with cephaloceles.
- To assess the prognosis and associated anomalies.
- To compare cephaloceles with cystic hygromas.
Main Methods:
- Retrospective review of prenatal sonograms from 15 fetuses with cephaloceles.
- Analysis of fetal outcomes, karyotypes, and associated malformations.
- Comparison with 15 fetuses with cystic hygromas.
Main Results:
- Poor prognosis: 21% live birth rate, likely handicaps.
- Abnormal karyotypes in 44% of tested fetuses.
- High incidence of associated cranial and neural/nonneural axis abnormalities (60%).
- Sonography struggled to differentiate meningocele/encephalocele and had limitations in detecting all neural malformations.
- Cephaloceles are distinguishable from cystic hygromas based on mass location and cranial findings.
Conclusions:
- Prenatal diagnosis of cephaloceles is associated with a poor prognosis and frequent anomalies.
- Sonographic detection of associated abnormalities and karyotype analysis are important.
- Distinguishing cephaloceles from cystic hygromas is possible with careful sonographic evaluation.