Neural tube defects and spina bifida


  • Neural tube defects are a certain type of birth defect of the brain, spine, and/or spinal cord.

    Neural tube defects can result in nerve damage, learning disabilities, paralysis, and death.
    The diagnosis can be made before birth and is based on a blood test, an amniotic fluid test, or an ultrasound.
    After birth, doctors do a physical examination and may do additional imaging tests.
    Folate (folic acid) taken by the mother before conception and during the first trimester can help prevent these defects.
    Surgery is needed to close neural tube defects.

    (See also Overview of Brain and Spinal Cord Birth Defects.)
    In the fetus, the brain and spinal cord develop as a groove that folds over to become a tube called the neural tube. Layers of tissue that come from this tube normally become the brain and spinal cord and the tissues that cover them, including part of the spine and the meninges. Sometimes the neural tube does not develop normally, which may affect the brain, spinal cord, and meninges.
    Anencephaly is the most severe form of neural tube defect. In anencephaly, the brain tissue fails to develop. This defect is always fatal.
    Chiari malformation may be present. In this abnormality, the cerebellum (the part of the brain that controls balance) protrudes through the opening in the bottom of the skull. The protruding cerebellum may put pressure on the brain stem or spinal cord. Children may develop hydrocephalus (water on the brain).
    Syringomyelia, a dilation of the normally small fluid-filled central canal of the spinal cord, cord may be present.


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