Just what is this disease of infants we call spina bifida?
Spina bifida is one of the most common and serious birth defects diagnosed in the United States. It affects as many as 1 in 700 infants born in North America. Infants born with this condition have a defect in the spine which allows portions of the spinal cord to be pushed outwards. The portion of the spinal column pushed outwards as a result of the defect is exposed to the environment, making it susceptible to injury or infection with bacteria. This can have devastating consequences for the infant if not corrected.

What causes spina bifida?
Although no one knows the exact cause of this disease, it seems to involve both genetic factors and environmental causes. It seems to be more common in some families, although most cases occur in infants where there is no known family history,suggesting there is also an environmental component. It's been discovered that inadequate intake of folic acid by the mother before and during pregnancy greatly increases the risk of this disease in the fetus. Some studies have suggested that mothers who have infants with spina bifida don't metabolize folic acid in the same way as normal mothers which makes them more susceptible to the disease. There is ongoing research to try to find more precise answers as to what causes this relatively common infant birth defect.

What are the potential consequences of untreated spina bifida?
This will depend on the the size of the spinal defect as well as where the defect is located on the spine. The higher up the defect occurs, the more deficits the infant will have since all of the nerves below the defect are affected. Symptoms can range from mild weakness of the lower extremities to complete paralysis with loss of bowel and bladder function. An infant with spina bifida can also develop a condition called hydrocephalus, which means there's a buildup of fluid on the brain.

How is spina bifida diagnosed?
Spina bifida is normally screened for by using a maternal blood test which checks for levels of alpha fetal protein. When the level of this protein is elevated, spina bifida is suspected. This test would be followed up by performing an ultrasound to see if the fetus shows the characteristic spinal column defect. An amniocentesis would also be performed to confirm the \high levels of alpha fetal protein.

How is spina bifida treated?
Proper diagnosis and treatment of this serious condition is important in order to optimize the chance that the affected infant will live a as normal a life as possible. The goal of treatment of spina bifida is to close the defect in the affected patient's spine. As a general rule, a child born with spina bifida will have surgery to close the defect within the first few days of life. The problem is the affected nerve tissue may already be damaged at this point. Generally when nerve damage has occurred, it's not reversible even through surgery. Surgery will still be indicated to prevent further nerve damage by sealing off the spinal column defect so the spinal tissue is not further exposed and damaged. Surprisingly enough, doctors in some cases are doing surgery to close the defect while the child is still a fetus in the mother's womb which may improve the long term prognosis in some cases.

What is the prognosis after surgery to correct the defect?
Despite surgery to correct the spinal column defect, the infant may be left with residual problems due to previous nerve damage. As such, he may require assistance with walking such as walkers and braces and have problems with bowel and bladder movements, sometimes requiring catheterization. Some children with spina bifida will experience learning problems in school requiring special tutoring and educational attention, although many of these children are of normal intelligence. The good news is life expectancy in children affected with spina bifida has increased dramatically with 75% of children born with the most severe form living into early adulthood. This is, indeed, good news!

What can be done to prevent spina bifida?
The best way we know of at the present time to prevent spina bifida is to get an adequate intake of folic acid before and during pregnancy. This helps to prevent the spinal column defect from occurring. Folic acid can be taken in supplemental form as advised by your doctor. Generally, the dosage ifs 400 micrograms taken on a daily basis. If you're pregnant, be sure to ask your doctor about possible supplementation with folic acid.

As you can see spina bifida is a complex and sometimes devastating disease. Fortunately, children are living better and longer than ever before with this disease and there is ongoing research to determine the cause of spina bifida as well as measures to treat and prevent this disease.