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Obstetrics & Gynecology 2006;107:685-693
© 2006 by The American College of Obstetricians and Gynecologists
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ORIGINAL RESEARCH

Dandy-Walker Malformation Complex

Correlation Between Ultrasonographic Diagnosis and Postmortem Neuropathology

Joanna J. Phillips, MD, PhD1, Barry S. Mahony, MD2, Joseph R. Siebert, PhD3,4, Tasneem Lalani, MD, MS5, Corinne L. Fligner, MD4,6 and Raj P. Kapur, MD, PhD3,4

From the 1Department of Pathology, University of California, San Francisco, California; 2Seattle Ultrasound Associates and Swedish Hospital and Medical Center, Seattle, Washington; 3Department of Laboratories, Children's Hospital and Regional Medical Center, Seattle, Washington; and the Departments of 4Pathology, 5Radiology, and 6Laboratory Medicine, University of Washington, Seattle, Washington.

OBJECTIVE: This autopsy-based study was designed to evaluate sonographic and neuropathologic findings of fetuses diagnosed prenatally with Dandy-Walker malformation complex.

METHODS: The retrospective study encompassed a series of 44 autopsy cases from 2 tertiary referral centers with a prenatal ultrasound diagnosis of Dandy-Walker malformation complex between 1995 and 2003. Ultrasound and pathology data from the cases and from age-matched controls were reviewed in a blinded manner. An unequivocal diagnosis of Dandy-Walker malformation complex from ultrasonography or pathology archival images required significant hypoplasia or aplasia of the cerebellar vermis.

RESULTS: Neuropathologic examination failed to confirm the prenatal diagnosis of Dandy-Walker malformation complex in 59% (26/44, 95% confidence interval [CI] 44–72) of the cases. After standardized reevaluation of high quality archival sonograms and pathology images, concordance remained poor at 55% (6/11 cases, 95% CI 28–79). Sonographic features that favored concordance included marked enlargement of the cisterna magna (≥ 10 mm), complete aplasia of the vermis, and a trapezoid-shaped gap between the cerebellar hemispheres. This latter finding contrasted with a keyhole-shaped gap in fetuses with no cerebellar neuropathology.

CONCLUSION: Correlation between a prenatal ultrasound diagnosis of Dandy-Walker malformation complex and autopsy neuropathology findings is poor. Unequivocal prenatal sonographic diagnosis of Dandy-Walker malformation complex should be reserved for cases with the classic findings of Dandy-Walker malformation, including enlargement of the cisterna magna, aplasia of the vermis, and a trapezoid-shaped, rather than keyhole-shaped, interhemispheric gap.

LEVEL OF EVIDENCE: III






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Copyright © 2006 by the American College of Obstetricians and Gynecologists.