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Dandy-Walker malformation complex: correlation between ultrasonographic diagnosis and postmortem neuropathology.
Joanna J Phillips1, Barry S Mahony, Joseph R Siebert
1Department of Pathology, University of California, San Francisco, California, USA.
Obstetrics and Gynecology
|March 2, 2006
Summary
Prenatal ultrasound diagnosis of Dandy-Walker malformation complex often does not match autopsy findings. Classic sonographic features are key for accurate diagnosis of this fetal brain abnormality.
Area of Science:
- Medical imaging
- Neuropathology
- Fetal medicine
Background:
- Dandy-Walker malformation complex is a significant fetal brain abnormality.
- Accurate prenatal diagnosis is crucial for management and counseling.
Purpose of the Study:
- To evaluate the correlation between prenatal sonographic findings and autopsy-proven neuropathology in Dandy-Walker malformation complex.
- To identify sonographic features predictive of accurate diagnosis.
Main Methods:
- Retrospective review of 44 autopsy cases with prenatal diagnosis of Dandy-Walker malformation complex.
- Blinded comparison of ultrasound and pathology data.
- Standardized reevaluation of archival images.
Main Results:
- Neuropathology confirmed Dandy-Walker malformation complex in only 41% of cases.
- Concordance between prenatal diagnosis and autopsy findings was poor (55% after reevaluation).
- Key sonographic indicators for accurate diagnosis included enlarged cisterna magna, vermian aplasia, and a trapezoid-shaped interhemispheric gap.
Conclusions:
- Correlation between prenatal ultrasound and autopsy for Dandy-Walker malformation complex is suboptimal.
- Unequivocal prenatal diagnosis requires classic sonographic findings: enlarged cisterna magna, vermian aplasia, and a trapezoid-shaped interhemispheric gap.