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The diagnosis varies with the type of defect.
Although often overlooked, spina bifida occulta is occasionally palpable, and a spinal X-ray can show the bone defect. Myelography can differentiate it from other spinal abnormalities, especially spinal cord tumors.
Meningocele and myelomeningocele are obvious on examination; transillumination of the protruding sac can sometimes distinguish between them. (In meningocele, it typically transilluminates; in myelomeningocele, it doesn’t.)
In myelomeningocele, a pinprick examination of the legs and trunk shows the level of sensory and motor involvement; skull X-rays, cephalic measurements, and a computed tomography scan demonstrate associated hydrocephalus.
Other appropriate laboratory tests in patients with myelomeningocele include urinalysis, urine cultures, and tests for renal function starting in the neonatal period and continuing at regular intervals.
Although amniocentesis can detect only open defects, such as myelomeningocele and meningocele, this procedure is recommended for all pregnant women who have previously had children with spinal cord defects; these women are at an increased risk for having children with similar defects. If these defects are present, amniocentesis shows increased alpha-fetoprotein levels by 14 weeks’gestation.
Ultrasonography can also detect or confirm the presence and extent of neural tube defects.
Source: Handbook of Diseases, 2003
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