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| |    Neural Tube Defects: What Are They? by Lynn Cates, M.D., F.A.A.P. reviewed by Laura Jana, M.D., F.A.A.P. It is quite common for expectant parents to fear that their children might be born with a birth defect. In general, birth defects affect either a fetus's physical development or intellectual ability, or both. One of the most serious-and most common--types are neural tube defects (NTDs), which can cause both mental and physical problems. As alarming as this prospect is, there's good news: Up to 70 percent of cases can now be prevented if women take folic acid supplements while they are in their childbearing years, especially before they become pregnant and during the first few weeks of pregnancy. Understanding neural tube defects In a developing fetus, the neural tube ultimately becomes the baby's spinal cord and brain. At the beginning of fetal life, the neural tube is open, but by the end of the first month of gestation, the neural tube fuses closed, with the bones coming together to protect the underlying nervous system. NTDs result when any part of this developmental process is incomplete, and affects the bones of the spine (the vertebrae and backbone) as well as the spinal cord and brain. Types of neural tube defects There are three main categories of NTDs:
Neural tube defects occur in about 1 in every 1,000 to 2,000 live births in the United States, or in about 1,500 to 2,000 babies each year. The vast majority (about 95 percent) of NTDs occur in families with no history of this disorder. However, if a mother has given birth to one child with spina bifida, she has about a 2 to 3 percent chance of having a second child with the disorder. If she has had two children, her risk of having a third rises to about 5 percent. The risk also is higher in mothers who are taking certain medications (e.g., for epilepsy), or who have diabetes. NTDs are more common in people of European or Hispanic backgrounds, and less common among blacks, most Asians, and Ashkenazi Jews. Most children with NTDs have no other birth defects, but occasionally NTDs make up only one component of certain serious syndromes. What causes neural tube defects? It is very clear that one of the most common causes of NTDs is insufficient folic acid in the mother's diet, both before she became pregnant and during the first few weeks of pregnancy. Several other factors may contribute to the development of NTDs as well, including poor nutrition, certain drugs, and exposure to chemicals or radiation. In a few families, there also appears to be a genetic predisposition. What is the outlook for children with neural tube defects? Most babies with anencephaly live at most only a few hours after birth. Babies with encephalocele ordinarily don't survive very long after birth, and if they do survive, they usually are severely mentally retarded. In contrast, with prompt diagnosis and aggressive treatment, most children with spina bifida survive, and the vast majority can lead full and active lives. Overall, about 70 percent of children with spina bifida have normal intelligence, and, with physical therapy, about 70 percent eventually will be able to walk, although they may need braces, crutches, or canes. The most common problems include muscle weakness and paralysis of the legs, abnormal bowel and bladder function, hydrocephalus (or increased fluid build-up around the brain), infections, and social and learning problems. Diagnosis, treatment, and prevention Please see our article on how these defects are identified, managed, and prevented. Resources Other sources of information about neural tube defects include: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 1-888-MODIMES (663-4637) www.modimes.org The Spina Bifida Association of America 4590 MacArthur Boulevard, NW Suite 250 Washington, DC 20007-4226 1-800-621-3141 1-202-944-3285 www.sbaa.org
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