Chromosomal and Genetic Conditions

Myelomeningocele Symptoms and Diagnosis

Symptoms of Myelomeningocele

A baby with a myelomeningocele has a sac holding parts of the spinal cord area sticking though the back. This can cause symptoms that include:

  • Problems with physical movement
  • Loss of sensation; for example, the baby can't sense hot or cold
  • Loss of bowel and bladder control
  • Twisted or abnormal legs and feet, for example, clubfoot  
     
  • Too much cerebrospinal fluid in the head (hydrocephalus)
  • Problems with formation of the brain (Chiari 2 malformation)

Myelomeningocele Diagnosis

Your community doctor may find the condition before your baby is born. A blood test for pregnant women called the quadruple screen may show you have more of a protein called maternal alpha fetoprotein (AFP) in your blood than normal. This is a sign that a developing baby may have spina bifida.

If the blood test shows high levels of AFP, you may have tests to make sure of the diagnosis. These include:

  • Ultrasound
  • Amniocentesis

Doctors can also find a myelomeningocele after the baby is born. Your baby may have imaging tests that let doctors see the spine. They include:

  • X-rays
  • Ultrasound
  • CT (computed tomography) scan  
  • MRI (magnetic resonance imaging)