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Neural Tube Defects

Last Updated November 2023 | This article was created by familydoctor.org editorial staff and reviewed by Robert "Chuck" Rich, Jr., MD, FAAFP

What are neural tube defects?

Neural tube defects (NTDs) are birth defects. They affect a baby’s spine, spinal cord, or brain. Very early in pregnancy, cells from the developing fetus gather together to form a tube. From this tube, the brain, spinal cord and spinal column develops. When a portion of that tube fails to form properly, it results in NTDs.

The different kinds of neural tube defects are:

  • Spina bifida. This is the most common NTD. It occurs in the base of the fetus’ spinal column. The opening allows part of the spinal cord to poke through the column. Spina bifida comes in several types.
  • It occurs in the upper part of the neural tube. This causes unformed sections of the fetus’ brain, skull, and scalp. It is more common in girls than boys.
  • This is similar to anencephaly, but rarer. It occurs when part of the brain and membranes poke through the skull.
  • Chiara malformation. Also rare, this occurs when brain tissue leaks into the fetus’ spinal canal.

Symptoms

The main sign of NTDs is physical deformities. Symptoms can include paralysis, developmental delays, and seizures.

What causes neural tube defects?

The exact cause of NTDs is not known. It may be difficult to determine because the defects begin in the first month of pregnancy. A lot of women don’t even know they are pregnant at this stage.

Your risk for having a baby with neural tube defects increases if you:

  • Have a family history of NTDs
  • Have obesity
  • Have diabetes
  • Take certain medicines to prevent seizures
  • Are of a certain race. NTDs are highest among Hispanics.

Other potential risk factors are genetics and the environment.

How are neural tube defects diagnosed?

A doctor often diagnoses an NTD during pregnancy. The defects can show up on imaging or lab tests. If your doctor sees signs of an NTD, they may perform additional tests.

Can neural tube defects be prevented or avoided?

The best way to help prevent neural tube defects is by taking folic acid. This is a type of B vitamin. You can take it as a supplement or in a multivitamin. Folic acid also is found in some enriched or fortified foods. Things like cereals, breads, pastas, rices, and flours contain higher amounts. The American Academy of Family Physicians (AAFP) recommends that all women who are pregnant or trying to get pregnant should take folic acid. They need 0.4 to 0.8 mg (400 to 800 mcg) every day.

Doctors also suggest eating foods high in folate. These include:

  • Dark green leafy vegetables (such as spinach)
  • Broccoli
  • Asparagus
  • Beans
  • Peas
  • Lentils
  • Oranges and orange juice

Neural tube defects treatment

NTDs do not have cures. Treatment options focus on relieving pain and preventing future damage. Babies who have spina bifida may need surgery to help correct damage.

Living with neural tube defects

Babies who have anencephaly do not live. They either are stillborn or die hours after birth. Babies who have other NTDs have lasting effects. Spina bifida can cause paralysis below the spine. Another common issue is difficulty going to the bathroom.

Questions to ask your doctor

  • How do I know if I need folic acid?
  • Should I wait until I’m pregnant to start taking folic acid?
  • When during pregnancy can I be tested to see if my baby has an NTD?
  • What are the benefits to diagnosing an NTD during pregnancy?

Resources

American Academy of Family Physicians, Clinical Preventive Service Recommendation: Neural Tube Defects

March of Dimes: Neural Tube Defects

National Institutes of Health, Eunice Kennedy Shriver National Institute of Child Health and Human Development: Neural Tube Defects

Spina Bifida Association

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