Spina bifida describes varying birth defects caused by incomplete formation of the spine in utero. Along with problems associated directly with movement originating from the spine, spina bifida often causes permanent nerve damage to the areas affected. Though damage to the spine may be surgically corrected, nerves are generally not repairable and may impair brain function and movement.
Part of the spine may be exposed to the outside, and noticed at birth. Surgery is generally undertaken to close the spine and to place skin grafts over areas where the spine is exposed. Movement difficulties depend upon which area of the spine is affected. For example, spina bifida in the lumbar region, the area between the abdomen and pelvis, tends to affect the legs, feet and knees. Usually those with lumbar malformations cannot walk or stand.
Spina bifida is categorized by location and severity. Three forms exist and they are: spina bifida cystica, spina bifida occulta, and meningocele. Spina bifida cystica is the most severe and difficult form. The spinal cord is open and may have been totally improperly formed. Brain function and movement are significantly affected, with many children fully or partially paralyzed. Fluid in the brain, hydrocephalus, is also a frequent occurrence requiring a shunt to reduce fluid.
Some studies indicate that fetal surgery may help reduce impairment caused by spina bifida cystica. Studies of unborn children with this type of spina bifida show that nerve damage worsens as the pregnancy progresses. There are several clinical trials now underway to evaluate the benefit of early closure of the spine to reduce symptoms after birth. These trials are still new, as is the ability to perform surgery on an unborn child. However, preliminary results look promising.
Spina bifida occulta is one of the least damaging types. The spine is not exposed at birth, and many may grow up completely unaware of their condition. Pain in the legs tends to manifest in adults who are in their 30s and 40s. Some people may be diagnosed earlier if the hips, knees or legs are deformed. Treatment usually revolves around closing the very small fracture or opening of the spine. Nerve damage, however, is usually permanent, though pain may be reduced.
Meningocele spina bifida usually looks the worst but has the best outcome for treatment. Skin may not have formed over the spine. The meninges, or membranous tissue of the spine are usually pushed through the skin causing a large cyst to form on the back. Though these tissues may be damaged somewhat, the nerves are usually not damaged. Surgery places the meninges back into the spine, and frequently results in an excellent outcome.
Not all causes for spina bifida are known. However, studies in the 1990s concluded that taking folic acid daily prior to pregnancy reduces risk significantly. Usually spina bifida begins with malformation of the neural tube, forming in the fourth week of pregnancy, so folic acid must be taken prior to conception to be effective.
Many early tests can scan for spina bifida and other neural tube defects. Amniocentesis can show evidence of spina bifida and other birth defects, and is usually performed between gestational weeks 14 and 16. Chronic villus sampling may also give much earlier detection, yet the results are somewhat disputed and may not always be accurate. Both tests carry some risks to the unborn child. Where a mother has already given birth to a child with spina bifida, risk may be slightly increased. Most obstetricians recommend both prenatal testing of the above types and genetic counseling.
Fetal surgery and increased understanding of spina bifida may help to eradicate its damage and its existence. Those affected may have significant impairment and challenges trying to live in a world not adjusted for those with disabilities. It is hoped that more study in this area will help future generations of children avoid spina bifida in any form.
