Merck Manual

Please confirm that you are not located inside the Russian Federation

honeypot link

Overview of Brain and Spinal Cord Birth Defects

By

Stephen J. Falchek

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

Last full review/revision Apr 2019| Content last modified Apr 2019
Click here for the Professional Version
  • 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 computed tomography and magnetic resonance imaging.

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

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

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)

  • After birth, computed tomography or magnetic resonance imaging

Before birth, amniocentesis Amniocentesis Prenatal diagnostic testing involves testing the fetus before birth (prenatally) to determine whether the fetus has certain abnormalities, including certain hereditary or spontaneous genetic... read more (removing a sample of fluid from around the fetus), prenatal ultrasonography Ultrasonography Prenatal diagnostic testing involves testing the fetus before birth (prenatally) to determine whether the fetus has certain abnormalities, including certain hereditary or spontaneous genetic... read more , or a newer technique called fetal MRI may enable doctors to identify many of these defects during pregnancy. When a defect is identified, parents need psychologic support and genetic counseling because the risk of having other children with such a defect is high.

Prevention of Brain and Spinal Cord Birth Defects

  • Folate

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 (a B vitamin, folic acid) taken before and during pregnancy can decrease the risk of some neural tube defects. For this reason, women of child-bearing age are encouraged to take folate if they think that they may become pregnant.

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 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.

More Information

NOTE: This is the Consumer Version. DOCTORS: Click here for the Professional Version
Click here for the Professional Version
Others also read
Test your knowledge
Preventive Health Care Visits in Infants
Frequent doctor visits are recommended for all infants younger than 1 year of age. These visits, also called well-child visits, make it possible to check development, look for health problems, provide age-appropriate vaccinations, and educate parents. Which of the following is a condition that might affect some infants born very prematurely, with less than 32 weeks of development in the uterus?
Download the Manuals App iOS ANDROID
Download the Manuals App iOS ANDROID
Download the Manuals App iOS ANDROID

Also of Interest

Download the Manuals App iOS ANDROID
Download the Manuals App iOS ANDROID
Download the Manuals App iOS ANDROID
TOP