Neural Tube Defects
What is Neural Tube Defects?
Neural tube defects are birth defects that affect the baby's brain, spine, or spinal cord. They happen during the first month of pregnancy, often before a woman knows she is pregnant. The neural tube is the part of a developing baby that becomes the brain and spinal cord. When this tube does not close completely, a neural tube defect occurs.
The two most common types are spina bifida and anencephaly. Spina bifida happens when the spinal column does not close all the way. This can cause nerve damage and problems with walking and bladder control. Anencephaly is a more severe condition where major parts of the brain and skull do not develop. Babies with anencephaly are usually stillborn or die shortly after birth.
Neural tube defects affect about 3,000 pregnancies in the United States each year. Most cases can be prevented with proper nutrition and folic acid intake before and during early pregnancy. Understanding your folate levels through blood testing can help you take steps to reduce this risk.
Symptoms
- Visible opening in the spine in babies with spina bifida
- Fluid-filled sac on the baby's back
- Partial or complete paralysis of the legs
- Bowel and bladder control problems
- Abnormally large head due to fluid buildup
- Learning disabilities or developmental delays
- Seizures in some cases
- Curved spine or other bone problems
Neural tube defects are present at birth and are typically detected during pregnancy through prenatal screening. In cases of anencephaly, babies may have missing portions of the brain and skull visible at birth. Many cases of spina bifida are now detected before birth through ultrasound and blood tests.
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Causes and risk factors
Neural tube defects occur when the neural tube fails to close properly during the first 28 days of pregnancy. Low levels of folic acid, also called folate, are the most significant preventable risk factor. Women who do not get enough folic acid before and during early pregnancy have a much higher risk of having a baby with a neural tube defect. Genetic factors also play a role, including mutations in the MTHFR gene that affect how the body processes folate.
Other risk factors include obesity before pregnancy, poorly controlled diabetes, certain medications, and high body temperature during early pregnancy. Women who have already had a pregnancy affected by a neural tube defect have a higher risk in future pregnancies. Family history of neural tube defects, Hispanic ethnicity, and certain anti-seizure medications also increase risk. Taking folic acid supplements before conception can reduce risk by up to 70 percent.
How it's diagnosed
Neural tube defects are diagnosed through prenatal screening during pregnancy. Blood tests between 15 and 20 weeks of pregnancy measure alpha-fetoprotein levels, which are often elevated when a neural tube defect is present. Ultrasound imaging can also detect most cases of neural tube defects. Amniocentesis may be recommended if initial screening suggests a problem.
Before pregnancy, testing folate levels can help identify women at higher risk. Rite Aid offers folate testing, including serum folate, RBC folate, and MTHFR mutation testing through our add-on options. These tests help you understand your folate status and genetic factors that affect folate processing. Testing at Quest Diagnostics locations makes it easy to check your levels before trying to conceive.
Treatment options
- Folic acid supplementation before conception and during pregnancy, typically 400 to 800 micrograms daily
- Higher dose folic acid, 4,000 micrograms daily, for women with previous affected pregnancies
- Methylfolate supplements for women with MTHFR gene mutations
- Surgery within 48 hours of birth to close the opening in spina bifida cases
- Fetal surgery during pregnancy to repair spina bifida in some cases
- Shunt placement to drain excess fluid from the brain
- Physical therapy and mobility aids for children with spina bifida
- Bladder catheterization and bowel management programs
- Eating folate-rich foods including leafy greens, beans, and fortified cereals
- Regular monitoring by specialists including neurologists and orthopedic surgeons
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Frequently asked questions
Neural tube defects are birth defects affecting the brain, spine, or spinal cord that occur during the first month of pregnancy. The most common types are spina bifida, where the spinal column does not close completely, and anencephaly, where parts of the brain and skull do not develop. These conditions happen when the neural tube, which forms the brain and spinal cord, fails to close properly during early development.
The primary preventable cause is low folic acid levels before and during early pregnancy. Genetic factors, including MTHFR gene mutations, affect how the body processes folate. Other risk factors include obesity, poorly controlled diabetes, certain medications, previous affected pregnancy, and family history. Taking folic acid supplements before conception can reduce risk by up to 70 percent.
Yes, most neural tube defects can be prevented with adequate folic acid intake. Women should take 400 to 800 micrograms of folic acid daily starting at least one month before conception and continuing through the first trimester. Women who have had a previous affected pregnancy should take 4,000 micrograms daily. Eating folate-rich foods and getting tested for folate levels can also help reduce risk.
Neural tube defects are detected through prenatal screening tests. Blood tests between 15 and 20 weeks measure alpha-fetoprotein levels, which are often elevated with neural tube defects. Ultrasound imaging can visualize the baby's spine and brain to detect abnormalities. If screening tests suggest a problem, amniocentesis may be recommended to confirm the diagnosis.
Folate blood tests measure your folic acid levels to assess risk before pregnancy. These include serum folate, which shows recent intake, and RBC folate, which reflects long-term stores. MTHFR mutation testing identifies genetic variants that affect folate processing. Testing your folate status before trying to conceive helps you address deficiencies early.
Spina bifida is a neural tube defect where the spinal column does not close completely during development. This creates an opening in the spine that can expose the spinal cord and nerves. Symptoms range from mild to severe and may include paralysis, bowel and bladder problems, and learning disabilities. Surgery within 48 hours of birth or sometimes before birth can help close the opening and prevent further damage.
Women with low folate levels, obesity, or poorly controlled diabetes face higher risk. Those who have had a previous pregnancy affected by neural tube defects have increased risk in future pregnancies. Family history, MTHFR gene mutations, Hispanic ethnicity, and use of certain anti-seizure medications also increase risk. Women taking medications for epilepsy should talk to their doctor before trying to conceive.
You should start taking folic acid at least one month before you start trying to conceive. Neural tube defects occur during the first 28 days of pregnancy, often before you know you are pregnant. Taking 400 to 800 micrograms of folic acid daily during this critical period gives your baby the best protection. All women of childbearing age should consider taking folic acid.
The MTHFR gene provides instructions for processing folate in your body. Mutations in this gene can reduce your ability to convert folic acid into its active form. This means you may have lower usable folate levels even if you consume enough folic acid. Women with MTHFR mutations may benefit from taking methylfolate, the active form of folic acid, instead of regular folic acid supplements.
Neural tube defects cannot be cured, but treatment can manage symptoms and improve quality of life. Surgery within 48 hours of birth can close the opening in spina bifida cases. Some babies may undergo fetal surgery before birth. Treatment may include shunt placement for fluid buildup, physical therapy, mobility aids, and bowel and bladder management programs. Early intervention and ongoing specialist care help children reach their full potential.