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False-positive diagnosis of spina bifida in a fetus with triploidy
D D Johnson1, C W Nager, N E Budorick
1Department of Reproductive Medicine, University of California, San Diego, La Jolla, USA.
Background:
Neural tube defects can be difficult to diagnose using ultrasound. Cranial markers, such as the lemon and banana signs, are useful sonographic findings that alert the ultrasonographer to examine the spine more carefully. The false-positive rate for the banana sign has been reported previously as zero.
Case:
A patient with elevated maternal serum alpha-fetoprotein presented for a fetal ultrasound examination. Findings on the scan included a lemon sign, a banana sign, an effaced cisterna magna, and splayed lumbar vertebrae. After pregnancy termination, no spinal abnormality was detected on autopsy. X-rays of the fetal spine demonstrated narrowing in the thoracic spine. The karyotype of the fetus was 69,XXY.
Conclusion:
The sonographic cranial findings suggestive of a neural tube defect were misleading in this case.