Myelomeningocele (Children)

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Diagnosis & Tests

Myelomeningocele is a visible defect after the child is born. Neurologic examination may indicate loss of neurologic functions below the defect. For example, response of the infant to pinpricks at various locations may indicate the level where sensation is maintained.

Prenatal screening:

During the first trimester, pregnant women can have a blood test called a triple screen. This test screens for spina bifida, Down syndrome, and other congenital diseases in the baby. Eighty-five percent of women carrying a fetus with spina bifida will show elevated maternal serum alpha fetoprotein (one of the three proteins measured in this blood test).

The triple screen has a high false positive rate, so if it is positive further testing is required to confirm the diagnosis. A prenatal ultrasound is then done and is usually a reliable test for spina bifida. Occasionally amniocentesis (test of the amniotic fluid) is done.

After birth:

• Spine X-rays may reveal the exact extent and location of the defect.
• Spine ultrasound may show an abnormal spinal cord or spine.
• Spine CT or spine MRI scan are occasionally used to determine the location and extent of the defect.