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Overview of Brain and Spinal Cord Birth Defects

By

Stephen J. Falchek

, MD, Nemours/Alfred I. duPont Hospital for Children

Reviewed/Revised Jul 2023
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Topic Resources
  • Birth defects of the brain and spinal cord can occur in early or late fetal development.

  • Typical symptoms include intellectual disability, paralysis, incontinence, or loss of sensation in some parts of the body.

  • The diagnosis is based on various blood and imaging tests, such as computed tomography and magnetic resonance imaging.

  • Some defects can be repaired surgically, but brain or spinal cord damage is usually permanent.

  • Folate taken before and during pregnancy can reduce the risk of certain types of defects.

There are many causes of birth defects of the brain and spinal cord, including many previously unknown genetic factors.

Symptoms of Brain and Spinal Cord Birth Defects

Diagnosis of Brain and Spinal Cord Birth Defects

  • Before birth, amniocentesis, prenatal ultrasonography, or fetal magnetic resonance imaging (MRI) and cell-free DNA screening

  • After birth, computed tomography or MRI

When a defect is identified, parents need psychologic support and genetic counseling because the risk of having other children with such a defect may be high.

Treatment of Brain and Spinal Cord Birth Defects

  • Surgery

Some defects, such as those that cause visible openings or swellings, can be repaired surgically.

Although brain or spinal cord damage resulting from the defect is usually permanent, surgery can help prevent further complications and improve function.

With prompt surgical intervention, some children have near-normal development.

Prevention of Brain and Spinal Cord Birth Defects

  • Folate

All women of childbearing age who have not had an infant with a neural tube defect should take a vitamin supplement with folic acid (folate Folate Deficiency Folate deficiency is common. Because the body stores only a small amount of folate, a diet lacking in folate leads to a deficiency within a few months. Not eating enough raw leafy vegetables... read more ) beginning 3 months before getting pregnant and continuing through the first 3 months of pregnancy.

Women who have had an infant with a neural tube defect are at high risk of having another affected infant and should take high doses of folate supplements beginning 3 months before getting pregnant again and continuing through the first 3 months of pregnancy. Folate supplements may not prevent all cases of neural tube defects but can reduce the risk of neural tube defects substantially.

More Information

The following English-language resource may be useful. Please note that THE MANUAL is not responsible for the content of this resource.

  • March of Dimes: An organization for pregnant people and babies that provides support and information about how to prevent maternal health risks, premature birth, and mother and infant deaths

Drugs Mentioned In This Article

Generic Name Select Brand Names
Folacin , Folicet, Q-TABS
NOTE: This is the Consumer Version. DOCTORS: VIEW PROFESSIONAL VERSION
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