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Spina bifida is part of a group of birth defects called neural tube defects. The neural tube is the embryonic structure that eventually develops into the baby's brain and spinal cord and the tissues that enclose them. Normally, the neural tube forms early in the pregnancy and closes by the 28th day after conception. In babies with spina bifida, a portion of the neural tube fails to develop or close properly, causing defects in the spinal cord and in the bones of the backbone. Spina bifida occurs in various forms of severity. When treatment for spina bifida is necessary, it's done through surgery, although such treatment doesn't always completely resolve the problem.
Complications of Spina Bifida
Spina bifida may occasionally cause no symptoms or only minor physical disabilities. More frequently, it leads to severe physical and mental disabilities. Factors that affect the severity of complications include:
Complications may include:
Additional problems may arise as children with spina bifida get older. Children with myelomeningocele may develop learning disabilities, including difficulty paying attention, problems with language and reading comprehension, and trouble learning math. Children with spina bifida may also experience latex allergies, skin problems, urinary tract infections, gastrointestinal disorders and depression.
Causes of Spina Bifida
Doctors aren't certain what cause spina bifida. As with many other problems, it appears to result from a combination of genetic and environmental risk factors, such as a family history of neural tube defects and folic acid deficiency.
Signs & Symptoms of Spina Bifida
Spina bifida occurs in three forms, each varying in severity:
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 — often including loss of movement (paralysis) — is common. So are bowel and bladder problems, seizures and other medical complications.
Diagnosis of Spina Bifida
If you're pregnant, you'll be offered prenatal screening tests to check for spina bifida and other birth defects. The tests aren't perfect. Even if the results are negative, there's still a small chance that spina bifida is present, and most mothers who have positive blood tests have normal babies. Talk to your doctor about prenatal testing, its risks and how you might handle the results. Prenatal testing is a personal choice.
The primary test used to check for myelomeningocele is the maternal serum alpha-fetoprotein (MSAFP) test. To perform this test, your doctor draws a blood sample and sends it to a laboratory, where it's tested for alpha-fetoprotein (AFP) — a protein that's produced by the fetus. It's normal for a small amount of AFP to cross the placenta and enter the mother's bloodstream, but abnormally high levels of AFP suggest that the fetus has a neural tube defect, most commonly spina bifida or anencephaly, a condition characterized by an underdeveloped brain and an incomplete skull. Some spina bifida cases don't produce a high level of AFP. On the other hand, when a high level of AFP is found, a neural tube defect is present only a small percentage of the time. Varying levels of AFP can be caused by other factors — including a miscalculation in fetal age or multiple fetuses — so your doctor may order a follow-up blood test for confirmation. If the results are still high, you'll need further evaluation, including an ultrasound examination.
Your doctor may perform the MSAFP test with two or three other blood tests, which look for:
Depending on the number of tests, the combination is called a triple screen or quadruple screen (quad screen). These tests are commonly done with the MSAFP test, but their objective is to screen for trisomy 21 (Down syndrome), not neural tube defects.
Many obstetricians rely on ultrasonography to screen for spina bifida. If blood tests indicate high AFP levels, your doctor will suggest an ultrasound exam to help determine why. The most common ultrasound exams bounce high-frequency sound waves off tissues in your body to form black-and-white images on a video monitor. The information these images provide can help establish whether there's more than one fetus and can help confirm gestational age — two factors that can affect AFP levels. An advanced ultrasound can also detect signs of spina bifida; such as an open spine or particular features in your baby's brain that indicate spina bifida. In expert hands, ultrasound today is quite effective in detecting spina bifida and assessing its severity. Ultrasound is safe for both mother and baby.
If a blood test shows high levels of AFP in your blood but the ultrasound is normal, your doctor may offer amniocentesis. During amniocentesis, your doctor uses a needle to remove a sample of fluid from the amniotic sac that surrounds the fetus. An analysis indicates the level of AFP present in the amniotic fluid. A small amount of AFP is normally found in amniotic fluid. However, when an open neural tube defect is present, the amniotic fluid contains an elevated amount of AFP because the skin surrounding the baby's spine is gone and AFP leaks into the amniotic sac. A second test can be done on the same sample to reliably confirm that a neural tube defect is present. Discuss the risks of this test, including a slight risk of loss of the pregnancy, with your doctor.
Treatments of Spina Bifida
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 several hours to several days 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.
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. 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. In addition, babies with myelomeningocele may need further operations for a variety of complications. 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 also may be part of the treatment for spina bifida. In many babies with spina bifida, the condition is detected before birth, and cesarean birth may be a safer way to deliver these babies. Delivery before labor begins may diminish the degree of damage to the baby's exposed nerves, so most specialists now recommend a cesarean section. This planned birth has another advantage — it allows a pediatric neurosurgical team to be ready for intervention soon after birth.
Researchers are investigating the effectiveness of prenatal surgery for spina bifida. In this experimental and controversial procedure, which isn't widely available, surgeons expose a pregnant mother's uterus surgically, open the uterus and repair the fetus' spinal cord. The surgery takes place between the 19th and 25th weeks of pregnancy. 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 seem to need fewer shunts, but their walking ability and bowel and bladder functioning don't seem to be improved. And the operation poses risks to the mother and greatly increases the risk of premature delivery. To get a better idea if there is enough of a benefit to justify the risks, the National Institute of Child Health and Human Development is conducting a large, long-term clinical trial called the Management of Myelomeningocele Study. The study hasn't yet been completed, so for now, it's unclear whether this risky technique is more effective than is traditional surgery to close the spinal column after birth.
Prevention of Spina Bifida
Folic acid, taken in supplement form at least one month before conception and during the first trimester of pregnancy, greatly reduces the risk of spina bifida and other neural tube defects.
Get folic acid first
It's critical to have enough folic acid in your system by the early weeks of pregnancy to prevent spina bifida. Because many women don't discover that they're pregnant until this time, experts recommend that all women of childbearing age take a daily supplement with between 400 and 800 micrograms (mcg) of folic acid. Several foods, including breakfast cereals, are fortified with 400 mcg of folic acid per serving. Folic acid may be listed on food packages as folate, which is the natural form of folic acid found in food.
If you're actively trying to conceive, most pregnancy experts believe supplementation of at least 400 mcg of folic acid a day is the best approach for women planning pregnancy. Your body doesn't absorb folate as easily as it absorbs synthetic folic acid, and most people don't get the recommended amount of folate through diet alone, so vitamin supplements are necessary to prevent spina bifida. And, it's possible that folic acid will also help reduce the risk of other birth defects, including cleft lip, cleft palate and some congenital heart defects. It's also a good idea to eat a healthy diet, including foods rich in folate or enriched with folic acid. This vitamin is present naturally in many foods, including:
When higher doses are needed
If you have spina bifida or if you've given birth to a child with spina bifida, you'll need extra folic acid before you become pregnant. If you're taking anti-seizure medications or you have diabetes, you may also benefit from a higher dose of this B vitamin. In these cases, the recommended dose of folic acid may be up to 4,000 mcg (4 mg) beginning one month prior to conception and during the first few months of pregnancy. However, check with your doctor before taking additional folic acid supplements.
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