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spina bifida Alternative Names spinal rachischisis, spinal dysraphism Definition Spina bifida is a type of birth defect that causes abnormal formation of the spinal column. What is going on in the body? The spinal column is a series of bones stacked on top of each other. There is a canal, or opening, in the center of these bones. This canal contains the spinal cord, a protective membrane around the cord, and many nerves. In spina bifida, the rear part of the spinal canal does not develop properly. This leaves an opening in the spinal column, which may cause problems in the nervous system. This most often occurs in the lower back, but any part of the spinal column may be affected. There are three common forms of spina bifida. Spina bifida occulta is the most common and least severe form of spina bifida. The rear part of the spinal column usually has only a small opening. The spinal cord and the protective membrane usually remain in their proper place. Meningocele is the least common of the three forms. The rear part of the spinal column has a larger opening. The protective membrane around the cord sticks out through the spinal column. The spinal cord and nerves usually remain in place. Myelomeningocele is the most severe form of this condition. The rear part of the spinal cord has a larger opening. The protective membrane and the spinal cord or some nerves stick out through the opening. Some children with spina bifida have hydrocephalus, or an increase in the fluid surrounding the brain. What are the signs and symptoms of the condition? Examination of a newborn infant with spina bifida may show different things. This depends on the form, location, and severity of the condition. Spina bifida occulta often has no findings at all. It may not be noticed until much later in life. Some children have a wisp of hair, a dimple, or a soft swelling in the skin over the area of the spinal canal defect. Meningocele may show obvious swelling in the skin over the area of the spinal column defect. The skin may even be missing. Many newborns have no other symptoms, although severe cases may cause problems in the nervous system. These can cause paralysis and loss of feeling. Myelomeningocele defects are usually the most obvious. A large swelling of the skin over the spinal column may occur, if the skin is present at all. Nervous system problems are usually found. These may include paralysis and loss of feeling. Constant dribbling of urine and leakage of stool may be present. If the defect is high up in the neck, an enlarged head and breathing troubles may occur. What are the causes and risks of the condition? Both genes and the environment are thought to play a part in causing spina bifida. For example, Caucasian women have affected children more often than African American women. The following factors increase the risk of a woman having a child with spina bifida: Having a previous child who has spina bifida. This increases the risk greatly for future children. Nutrition problems, especially a deficiency of folic acid. An excess of vitamin A also may cause this condition. Taking certain medications during pregnancy. These include medicines used to control seizures and vitamin A derivatives used to treat acne. A family history of spina bifida. This can be either in the woman or her partner. What can be done to prevent the condition? Many cases of spina bifida can be prevented if women get enough daily folic acid before becoming pregnant and during at least the first 12 weeks of pregnancy. The folic acid may come from foods fortified with folic acid or from folic acid supplements. Because many pregnancies are unplanned, all women who may get pregnant are advised to get at least 400 micrograms of folic acid daily. Prevention is often most effective before a woman knows she is pregnant. Those who already have an affected child may benefit from taking more folic acid and should speak with the healthcare provider. However, at least 30% of neural tube defects are unrelated to the mother's folic acid level. Women taking medicines to prevent seizures or drugs with vitamin A should discuss pregnancy with the healthcare provider. Vitamin A supplements should be avoided by pregnant women and women trying to get pregnant. How is the condition diagnosed? Sometimes, spina bifida can be diagnosed with an alphafetoprotein blood test before a child is born. Further testing is recommended if the blood test is abnormal. A pregnancy ultrasound can be used to look at the baby inside the womb. Another procedure, amniocentesis, may be done. This involves getting a sample of the fluid that surrounds the baby in the womb. A needle is inserted through the skin of the mother's belly and into the womb. Fluid is then taken out and sent to the lab for testing. The results of testing are often abnormal if a child has spina bifida. This condition may or may not be obvious during a physical exam at birth. If a defect is seen or suspected, further special X-ray tests are often used to define the exact defect. What are the long-term effects of the condition? Long-term effects depend on the severity and location of the defect. There may be no long-term effects at all, or death may occur. Severe nervous system damage is possible, and can cause the following symptoms: loss of sensation mental retardation paralysis permanent loss of bowel and bladder control seizures weakness Infection of the nervous system may also occur and can lead to death. The emotional impact on the family can be devastating if a child is severely affected. What are the risks to others? Spina bifida is not contagious and poses no risk to others. What are the treatments for the condition? Treatment depends on the severity and location of the defect. Mild forms of the condition may not require treatment. Severe defects may require immediate surgery after birth and intense treatment for the rest of the person's life. Following are other treatment options: assistive devices, such as a wheelchair, crutches, or braces medication to treat medical problems physical therapy and occupational therapy surgery to cover defects with skin to prevent infection surgical correction of problems with various organ systems a ventriculoperitoneal shunt, which is a tube inserted from the brain to the abdomen to drain excess fluid What are the side effects of the treatments? Surgery carries a risk of bleeding, infection, and allergic reaction to anesthesia. What happens after treatment for the condition? The greater the damage, the longer and more intensive the treatment must be. Some people who have spina bifida need treatment for life. How is the condition monitored? Parents can help monitor the symptoms. The healthcare provider also uses the physical exam to monitor the condition. Any new or worsening symptoms should be reported to the healthcare provider.

Author: Adam Brochert, MD Date Written: 05/10/00 Reviewer: Eileen McLaughlin, RN, BSN Date Reviewed: 06/11/01 Potential conflict of interest information for reviewers available on request