Fact: Spina Bifida is the most common permanently disabling birth defect in the United States
What is Spina Bifida?
Spina bifida is a birth defect that happens when a baby's backbone (spine) does not form normally. As a result, the spinal cord and the nerves that branch out of it may be damaged.
The term spina bifida comes from Latin and literally means "split" or "open" spine. This defect happens at the end of the first month of pregnancy, when a baby's spine and spinal cord (a bundle of nerves that runs down the center of the spine) are developing.
Spina bifida occurs in three forms, each varying in severity.
Spina bifida occulta
This mildest form results in a small separation or gap in one or more of the bones (vertebrae) of the spine. Because the spinal nerves usually aren't involved, most children with this form of spina bifida have no signs or symptoms and experience no neurological problems.
Visible indications of spina bifida occulta can sometimes be seen on the newborn's skin above the spinal defect, including:
- An abnormal tuft of hair
- A collection of fat
- A small dimple or birthmark
Many people who have spina bifida occulta don't even know it, unless the condition is discovered during an X-ray or other imaging test done for unrelated reasons.
This rare form, the protective membranes around the spinal cord (meninges) push out through the opening in the vertebrae. Because the spinal cord develops normally, these membranes can be removed by surgery with little or no damage to nerve pathways.
Also known as open spina bifida, myelomeningocele is the most severe form — and the form people usually mean when they use the term "spina bifida."
In myelomeningocele, the baby's spinal canal remains open along several vertebrae in the lower or middle back. Because of this opening, both the membranes and the spinal cord protrude at birth, forming a sac on the baby's back.
In some cases, skin covers the sac. Usually, however, tissues and nerves are exposed, making the baby prone to life-threatening infections.
Neurological impairment is common, including:
- Muscle weakness of the legs, sometimes involving paralysis
- Bowel and bladder problems
- Seizures, especially if the child requires a shunt
- Orthopedic problems — such as deformed feet, uneven hips and a curved spine (scoliosis)
Although doctors and researchers don't know for sure why spina bifida occurs, they have identified a few risk factors:
- Race. Spina bifida is more common among whites and Hispanics.
- Sex. Girls are affected more often.
- Family history of neural tube defects. Couples who've had one child with a neural tube defect have a slightly higher chance of having another baby with the same defect. That risk increases if two previous children have been affected by the condition.
In addition, a woman who was born with a neural tube defect, or who has a close relative with one, has a greater chance of giving birth to a child with spina bifida. However, most babies with spina bifida are born to parents with no known family history of the condition.
- Folate deficiency. Folate (vitamin B-9) is important to the healthy development of a baby. Folate is the natural form of vitamin B-9. The synthetic form, found in supplements and fortified foods, is called folic acid. A folate deficiency increases the risk of spina bifida and other neural tube defects.
- Some medications. Anti-seizure medications, such as valproic acid (Depakene), seem to cause neural tube defects when taken during pregnancy, perhaps because they interfere with the body's ability to use folate and folic acid.
- Diabetes. Women with diabetes who don't control their blood sugar well have a higher risk of having a baby with spina bifida.
- Obesity. Pre-pregnancy obesity is associated with an increased risk of neural tube birth defects, including spina bifida.
- Increased body temperature. Some evidence suggests that increased body temperature (hyperthermia) in the early weeks of pregnancy may increase the risk of spina bifida. Elevating your core body temperature, due to fever or the use of saunas or hot tubs, has been associated with increased risk of spina bifida.
How is spina bifida diagnosed?
During pregnancy, you can have a blood test (maternal serum triple or quadruple screen) and an ultrasound of the developing baby. These tests check for signs of spina bifida and other problems. If test results suggest a birth defect, you can choose to have an amniocentesis. This test helps confirm if the baby has spina bifida.
After birth, a doctor can usually tell if a baby has spina bifida by how the baby's back looks. If spina bifida is suspected, the doctor may do an X-ray, an MRI, or a CT scan to see if the defect is mild or severe.
Treatments and drugs
Spina bifida treatment depends on the severity of the condition. Spina bifida occulta often doesn't require treatment at all, but other types of spina bifida do.
Meningocele involves surgery to put the meninges back in place and close the opening in the vertebrae. Myelomeningocele also requires surgery, usually within 24 to 48 hours after birth.
Performing the surgery early can help minimize risk of infection that's associated with the exposed nerves and may also help protect the spinal cord from additional trauma.
During the procedure, a neurosurgeon places the spinal cord and exposed tissue inside the baby's body and covers them with muscle and skin.
Sometimes a shunt to control hydrocephalus in the baby's brain is placed during the operation on the spinal cord.
In this procedure — which takes place before the 26th week of pregnancy — surgeons expose a pregnant mother's uterus surgically, open the uterus and repair the baby's spinal cord.
Proponents of fetal surgery believe that nerve function in babies with spina bifida seems to worsen rapidly after birth, so it may be better to repair spina bifida defects while you're still pregnant and the baby is still in your uterus (in utero).
So far, children who received the fetal surgery need fewer shunts and are less likely to need crutches or other walking devices. But the operation poses risks to the mother and greatly increases the risk of premature delivery.
Discuss with your doctor whether this procedure may be right for you.
Treatment doesn't end with the initial surgery, though. In babies with myelomeningocele, irreparable nerve damage has already occurred and ongoing care from a multidisciplinary team of surgeons, physicians and therapists is usually needed. Babies with myelomeningocele may need further operations for a variety of complications.
Paralysis and bladder and bowel problems often remain, and treatment for these conditions typically begins soon after birth. Babies with myelomeningocele may also start exercises that will prepare their legs for walking with braces or crutches when they're older.
Many have a tethered spinal cord — a condition in which the spinal cord is bound to the scar of the closure and is less able to properly grow in length as the child grows. This progressive "tethering" can cause loss of muscle function to the legs, bowel or bladder. Surgery can limit the degree of disability and may also restore some function.
Cesarean birth may be part of the treatment for spina bifida. Many babies with myelomeningocele tend to be in a feet-first (breech) position. If your baby is in this position or if your doctor has detected a large cyst, cesarean birth may be a safer way to deliver your baby.
After recovery from surgery, babies born with a meningocele or myelomeningocele may need long-term care to help treat any underlying conditions that result from their spina bifida. Those with paralysis may eventually need walking aids like leg braces, walkers, or a wheelchair. Children with myelomeningocele who also have hydrocephalus will need the continuing care of a neurosurgeon, and they may have learning difficulties in school that require special services.
With the right medical care, kids can go on to lead normal, active lives. The goal is to create a lifestyle for them and their families in which their disability interferes as little as possible with normal everyday activities.
Many cases of spina bifida can be prevented if women of childbearing age take 0.4 milligrams (400 micrograms) of folic acid every day before pregnancy and continue to take it throughout the first trimester. Some women may have to take more folic acid, especially if they are taking the medicine valproic acid for epilepsy or depression.
Because many women don't find out that they're pregnant until 4 to 5 weeks into the pregnancy, it is important to start taking folic acid before becoming pregnant. This provides the best protection for an unborn baby. Good sources of folic acid include eggs, orange juice, and dark green leafy vegetables. Many multivitamins contain the recommended dose of folic acid, too.
Information on this page taken directly from:
Spina Bifida Association
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The following are organizations and/or websites dedicated to providing information and education surrounding Spina Bifida. These organizations are dedicated to research, education, awareness, and/or support. They are listed in Alphabetical order without any preference or prejudice. Listing these organizations is not a recommendation or referral in any regard for seeking treatment or consultation or support for treatment.
Spina Bifida Association