Spina bifida is a birth defect that mainly affects the spine. Normally in the first month of pregnancy, a special set of cells forms the “neural tube.” The top of the tube becomes the brain and the remainder becomes the spinal cord and structures around it. In spina bifida, the neural tube doesn’t close all the way and some of the bones
of the spine don’t close in the back. Often, abnormalities of the brain (such as hydrocephalus, described below) accompany abnormalities of the spine because the neural tube closes first in the middle and then closure proceeds both upward and downward—meaning that if something happens that prevents normal formation of the spine, it may also prevent normal formation of the part of the
brain that is forming (closing) at the same time. The term neural tube defect describes a group of conditions, including spina bifida, that occur when the neural tube does not close all the way. Each year approximately 1,400 babies born in the United States have spina bifida, according to the U.S. Centers for Disease Control and Prevention. The exact cause of spina bifida is unknown. There is no cure but most people with spina bifida lead long and productive lives.
Scientists suspect genetic, nutritional, and environmental factors all play a role in spina bifida. People with spina bifida have different abilities and medical issues. top There are four types of spina bifida: occulta, closed neural tube defects, meningocele, and myelomeningocele. The symptoms of spina bifida vary
from person to person, depending on the type and level of involvement. top Folic
acid, also called folate, is an important vitamin for the development of a healthy fetus. Although taking this vitamin cannot guarantee having a healthy baby, it can help. Studies show that women of childbearing age who add folic acid to their diets can significantly reduce the risk of having a child with a neural tube defect. Therefore, it is recommended that all women of childbearing age take a daily vitamin supplement with 400 micrograms of folic acid before and during early
pregnancy. Foods high in folic acid include dark green vegetables, egg yolks, and some fruits. Many foods—such as some breakfast cereals, enriched breads, flours, pastas, rice, and other grain products—are now fortified with folic acid. Many multivitamins contain the recommended dosage of folic acid as well. Women who already have a child with spina bifida, who have spina bifida themselves, or who have already had a pregnancy affected by any neural tube
defect are at greater risk of having another child with a neural tube defect. These women should take a higher prescription dose of folic acid before and early in pregnancy. Spina Bifida Complications Spina bifida’s impact is determined by the type of defect and in the case of myelomeningocele and closed neural tube defects the size and location of the malformation. Spina bifida complications may include:
top How is spina bifida diagnosed?In most cases, spina bifida is diagnosed before birth (prenatal). However, some mild cases may go unnoticed until after birth (postnatal). Very mild forms of spinal bifida are found when doing tests for other conditions or may never be detected. Prenatal Diagnosis The most common screening methods used to look for spina bifida during pregnancy are maternal serum alpha fetoprotein (MSAFP) screening and fetal ultrasound. A doctor can also perform an amniocentesis test.
The second trimester MSAFP screen may be performed alone or as part of a larger, multiple-marker screen. Multiple-marker screens can look for neural tube defects and other birth defects, including Down syndrome and other chromosomal abnormalities. First trimester screens for chromosomal abnormalities also exist but signs of spina bifida are not evident until the second trimester when the MSAFP screening is performed.
Postnatal Diagnosis Closed neural tube defects are often recognized at birth due to an abnormal fatty mass, tuft or clump of hair, or a small dimple or birthmark on the skin at the site of the spinal malformation. Spina bifida occulta is usually found when x-rays are done for another reason. In rare cases, myelomeningocele and meningocele are not diagnosed during routine prenatal tests. The baby will be diagnosed when they are born with a bubble on their back. Babies with myelomeningocele and closed neural tube defects may have muscle weakness in their feet, hips, and legs that result in joint deformities first noticed at birth. Mild cases of spina bifida (occulta, closed neural tube defects) not diagnosed during prenatal testing may be detected postnatally using ultrasound or X-ray imaging to look at the spine. Doctors may use magnetic resonance imaging (MRI) or a computed tomography (CT) scan to get a clearer view of the spinal cord and vertebrae. To evaluate for hydrocephalus, the doctor will request a head ultrasound, CT or MRI to look for extra cerebrospinal fluid inside the brain. top How is spina bifida treated?Treatment depends on the type of spina bifida a person has. Myelomeningocele and meningocele require a surgery to close the bubble shortly after birth to prevent infection such as meningitis. Most people with myelomeningocele have hydrocephalus and most of them will need a shunt placed as an infant. Children with a closed neural tube defect may need surgery to prevent further complications such as weakness and bowel and bladder function. Generally, people with spina bifida occulta will not need any treatment. Prenatal Surgery Prenatal (before birth) surgery involves opening the mother’s abdomen and uterus (or womb) and sewing shut the abnormal opening over the developing baby’s spinal cord. This is thought to protect the baby’s spinal cord from ongoing damage in the uterus. The Management of Myelomeningocele Study (MOMS) showed that prenatal surgery to close the defect in the spinal cord improved outcomes compared to children who had postnatal surgery for spina bifida. Data from the 2012 study showed that prenatal surgery reduced the need to drain fluid from the brain, improved mobility, and increased the chances that a child will be able to walk independently early on. This study was funded by the National Institutes of Health's Eunice Kennedy Shriver National Institute of Child Health and Human Development. The procedure does not restore lost neurological function that happened before the surgery, but may prevent additional damage from occurring during the rest of the pregnancy. Although prenatal surgery poses some risk to the fetus as well as to the mother, the benefits are promising and are still being studied. Postnatal Surgery In treating myelomeningocele and meningocele, the key priorities are to prevent infection from developing in the exposed nerves and spinal cord through the spinal defect, and to protect the exposed nerves and spinal cord from additional trauma. Therefore, a child born with these types of spina bifida who has not undergone prenatal surgery will have surgery to close the defect and minimize the risk of infection or further trauma within the first few days of life. Treatments for Complications Some children with myelomeningocele and closed neural tube defects will need surgery to improve the alignment of their feet, legs, or spine. Children with myelomeningocele usually have hydrocephalus and may require surgery to help drain fluid in the brain, such as the placement of a shunt or ETV. Multiple surgeries may be required to replace the shunt, which may become clogged, infected, or disconnected. Some individuals with myelomeningocele or closed neural tube defects require assistive devices for mobility such as braces, walkers, crutches, or wheelchairs. The location of the defect on the spine often determines the type of assistive devices needed. Children with a defect high on the spine will have little movement of the legs and will use a wheelchair for mobility. Children with a defect lower on the spine usually have more strength in the legs. They may be able to walk independently, or they may use crutches, leg braces, walkers, and wheelchairs depending on the activity. Children with myelomeningocele usually have some degree of delayed mobility, so they are referred to physical therapists early on to maximize their strength and function. Treatment for bladder and bowel dysfunction typically begins soon after birth. Children with myelomeningocele and some closed neural tube defects have damage to the lowest spinal nerves which control typical bowel and bladder function. Some children may be able to urinate typically, but most will need to drain their bladders with a catheter or thin tube 4-6 times a day to remain dry in between and to prevent kidney damage. Kidneys are monitored closely so that medications or surgeries can be performed to prevent renal failure. To prevent bowel accidents many people with myelomeningocele and closed neural type defects will use rectal medications or large volume enemas to have planned bowel movements. Close follow-up with a spina bifida specialty clinic is recommended to develop a safe bowel and bladder program. Treatment for progressive tethering of the spinal cord (called tethered cord syndrome) can be treated with surgery to help prevent further neurological deterioration. top What research is being done?The National Institute of Neurological Disorders and Stroke (NINDS), one of the National Institutes of Health (NIH), is the primary federal supporter of research on brain and nervous system disorders. NINDS conducts research in its laboratories at the NIH in Bethesda, Maryland, and supports research through grants to major medical institutions across the country. In addition to NINDS, other NIH Institutes support research on spina bifida and neural tube defects. Genetic studies. In one study supported by NINDS, scientists are looking at the hereditary basis of neural tube defects and hope to find the genetic factors that make some children more likely to have a neural tube defect. These researchers are also studying gene expression during the process of normal neural tube closure, which will provide information on the human nervous system during development. Findings may lead to ways to prevent these disorders. In addition, NINDS-supported scientists are working to identify, characterize, and evaluate genes involved in neural tube defects. The goal is to understand the genetics of neural tube closure and to develop information that will lead to improved clinical care, treatment, and genetic counseling. Other scientists are studying genetic risk factors for spina bifida, especially those that reduce the effectiveness of folic acid in preventing spina bifida. This study will shed light on how folic acid prevents spina bifida and may lead to improved forms of folate supplements. Developmental studies. NINDS supports and conducts a wide range of basic research studies to understand how the brain and nervous system develop. These studies contribute to a greater understanding of neural tube defects such as spina bifida and offer hope for new ways to treat and potentially prevent these disorders as well as other birth defects. Surgery. Results of the Management of Myelomeningocele Study (MOMS) (see Prenatal Surgery) showed significant benefit to the developing baby. Because fetal surgery has shown promise, NINDS-funded researchers are also developing new methods, such as stem cell patches and tissue engineering, to add to the prenatal repair of spinal defects. Other NIH research efforts. More information about research on spina bifida supported by NINDS and other NIH Institutes and Centers can be found using NIH RePORTER, a searchable database of current and past research projects supported by NIH and other federal agencies. RePORTER also includes links to publications and resources from these projects. Enter “spina bifida” to start your search. top How can I help with research?Consider joining a clinical study. Both healthy individuals and those with a disease or condition can participate in medical research studies (sometimes called clinical trials or protocols) to help researchers better understand a disease and perhaps develop new treatments. For information about clinical studies on disorders including spina bifida and how to participate in one, please contact the NIH’s Patient Recruitment and Public Liaison office at 800-411-1222 or visit the Clinicaltrials.gov website. top Where can I get more information?For more information on neurological disorders or research programs funded by the National Institute of Neurological Disorders and Stroke, contact the Institute's Brain Resources and Information Network (BRAIN) at: BRAIN Information also is available from the following organizations: Eunice Kennedy Shriver National Institute of Child Health and Human Development Spina Bifida Association March of Dimes MedlinePlus "Spina Bifida Fact Sheet", NINDS, Publication date January 2021 NIH Publication No. 21-NS-309 Back to Spina Bifida Information Page See a list of all NINDS disorders Publicaciones en Español Espina Bífida Prepared by: NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient's medical history. All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated. |