Neural Tube Defects

Neural tube defects are birth defects of the brain, spine, or spinal cord. They happen in the first month of pregnancy, often before a woman even knows that she is pregnant. The two most common neural tube defects are spina bifida and anencephaly. In spina bifida, the fetal spinal column doesn't close completely. There is usually nerve damage that causes at least some paralysis of the legs. In anencephaly, most of the brain and skull do not develop. Babies with anencephaly are usually either stillborn or die shortly after birth. Another type of defect, Chiari malformation, causes the brain tissue to extend into the spinal canal.

The exact causes of neural tube defects aren't known. You're at greater risk of having an infant with a neural tube defect if you

  • Are obese
  • Have poorly controlled diabetes
  • Take certain antiseizure medicines

Getting enough folic acid, a type of B vitamin, before and during pregnancy prevents most neural tube defects.

Neural tube defects are usually diagnosed before the infant is born, through lab or imaging tests. There is no cure for neural tube defects. The nerve damage and loss of function that are present at birth are usually permanent. However, a variety of treatments can sometimes prevent further damage and help with complications.

NIH: National Institute of Child Health and Human Development

Different Conditions

----------------------

Abnormal neuronal migration

A condition caused by failure of the cortex to correctly develop during the antenatal period, or by trauma. This condition is characterized by epileptic seizures. This condition may also present with learning impairments.
Related ICD 10 COde
ICD 10 Code Q07.9

----------------------

Anencephaly or similar anomalies

Anencephaly is a neural tube defect, characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours. In most cases autopsy findings reveal absence of adrenal glands. Anencephaly is likely to be multifactorial, the result of gene-environment interactions. Familial cases with a seemingly autosomal recessive mode of inheritance have been described but most cases are sporadic. Folic acid and zinc deficiencies, as well as maternal obesity, have been shown to be risk factors.

Additional Information

Anencephaly is a neural tube defect. Its prevalence at birth ranges from 1 in 5000 to 1 in 2000. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days. Autopsy findings reveal that anencephaly is in most cases associated with absence of adrenal glands. Anencephaly is likely to be multifactorial, the result of gene-environment interactions. Familial cases with a seemingly autosomal recessive mode of inheritance have been described but most cases are sporadic. The prevalence at birth displays an unequal geographical distribution, with especially high rates in the British Isles, China, Mexico and Turkey. This may be attributed to the genetic backgrounds of the populations and to dietary habits. Folic acid and zinc deficiencies, as well as maternal obesity, have been shown to be risk factors. Prenatal diagnosis can be made easily by ultrasonography in the first trimester of pregnancy when the cranial vault is not yet apparent. Prevention of recurrence for subsequent pregnancies should include prescription of 4 mg/day of folic acid, to be started before pregnancy and continued until the second missed period. For subsequent pregnancies there is also an increased risk of spina bifida.

Organ Affected

Entire brain (body structure)|Brain structure (body structure)

Abbreviated Terms

  • Hemianencephaly
  • Hemicephaly
  • Holoanencephaly
  • Meroanencephaly
  • congenital absence of cerebrum
  • hemicephalia
  • hemicephalus
  • incomplete anencephaly
  • bone anomaly of skull, with anencephaly
  • anomaly of skull, with anencephaly
  • congenital hemicrania
  • skull agenesis with anencephaly
  • absence of skull bone with anencephaly
  • congenital skull deformity with anencephaly
  • Also Known As

  • anencephalic monster
  • anencephalus
  • brain absence
  • brain agenesis
  • brain aplasia
  • absent brain
  • congenital absence of brain
  • anencephalic
  • Related ICD 10 COde
    ICD 10 Code Q00.0

    ----------------------

    Anencephaly

    Acalvaria is a rare malformation defined as missing scalp and flat bones over an area of the cranial vault. The size of the affected area is variable. In rare cases, acalvaria involves the whole of the dome-like superior portion of the cranium comprising the frontal, parietal, and occipital bones. Dura mater and associated muscles are absent in the affected area but the central nervous system is usually unaffected, although neuropathological abnormalities are often present (holoprosencephaly or gyration anomalies). Skull base and facial bones are normal.

    Also Known As

  • Acrania
  • Acranius
  • Related ICD 10 COde
    ICD 10 Code Q00.0

    ----------------------

    Related ICD 10 COde
    ICD 10 Code Q07.9

    ----------------------

    Abbreviated Terms

  • hydroencephalocele
  • meningoencephalocele
  • cranial hydromeningocele
  • cerebral meningocele
  • Also Known As

  • encephalomyelocele
  • Cranium bifidum
  • Related ICD 10 COde
    ICD 10 Code Q01

    ----------------------

    Cerebellar structural developmental anomalies

    A condition caused by failure of the cerebellum to correctly develop during the antenatal period. This condition may present with hypotonia, facial deformities, abnormalities in eyes or in ocular motricity, cognitive deficiencies, or motor dysfunction. Confirmation is through observation of a malformed cerebellum by imaging.
    Related ICD 10 COde
    ICD 10 Code Q07.9

    ----------------------

    Related ICD 10 COde
    ICD 10 Code Q07.9

    ----------------------

    Related ICD 10 COde
    ICD 10 Code Q07.9

    ----------------------

    Dandy-Walker malformation

    Dandy-Walker malformation is the association of three signs: hydrocephalus, partial or complete absence of the cerebellar vermis, and posterior fossa cyst contiguous with the fourth ventricle.
    Related ICD 10 COde
    ICD 10 Code Q07.9

    ----------------------

    Related ICD 10 COde
    ICD 10 Code Q01

    ----------------------

    Encephaloclastic disorders

    Porencephaly is characterized by a circumscribed intracerebral cavity of variable size that may be bordered by abnormal polymicrogyric grey matter. In extreme cases, this cavity may result in a communication between the pial surface and the ventricle; this is termed schizencephaly.
    Related ICD 10 COde
    ICD 10 Code Q07.9

    ----------------------

    Related ICD 10 COde
    ICD 10 Code Q07.9

    ----------------------

    Related ICD 10 COde
    ICD 10 Code Q07.9

    ----------------------

    Related ICD 10 COde
    ICD 10 Code Q07.9

    ----------------------

    Related ICD 10 COde
    ICD 10 Code Q07.9

    ----------------------

    Also Known As

  • Open iniencephalus
  • Related ICD 10 COde
    ICD 10 Code Q00.2

    ----------------------

    Related ICD 10 COde
    ICD 10 Code Q07.9

    ----------------------

    Related ICD 10 COde
    ICD 10 Code Q07.9

    ----------------------

    Related ICD 10 COde
    ICD 10 Code Q07.9

    ----------------------

    Related ICD 10 COde
    ICD 10 Code Q07.9

    ----------------------

    Related ICD 10 COde
    ICD 10 Code Q07.9

    ----------------------

    Related ICD 10 COde
    ICD 10 Code Q75

    ----------------------

    Related ICD 10 COde
    ICD 10 Code Q75

    ----------------------

    Structural developmental anomalies of the nervous system

    A malformation of the nervous system caused by the failure of neuropore closure. Infants are born with intact spinal cord, cerebellum, and brainstem, but lack formation of neural structures above this level. The skull is only partially formed but the eyes are usually normal.

    Organ Affected

    Entire brain (body structure)|Brain structure (body structure)
    Related ICD 10 COde
    ICD 10 Code Q00

    ----------------------

    Structural developmental anomalies of the neurenteric canal, spinal cord or vertebral column

    A condition caused by failure of the of the spinal cord during the antenatal period. This condition is characterized by separation of the spinal cord into two parts by a rigid or fibrous septum. This condition may present with misformed vertebrae, pain, weakness, impaired gait, sensory changes in the legs, or sphincter disturbance. Confirmation is through observation of a septum-bifurcated spinal cord by imagine.

    Organ Affected

    Spinal cord structure (body structure)|Entire spinal cord (body structure)

    Also Known As

  • Split cord malformation
  • diplomyelia
  • Related ICD 10 COde
    ICD 10 Code Q06.2

    ----------------------

    Structural developmental anomalies of the skeleton

    Any condition caused by failure of the cranium to correctly develop during the antenatal period.

    Also Known As

  • Cranial malformations
  • Malformations of cranium
  • Related ICD 10 COde
    ICD 10 Code Q75

    ----------------------

    Structural developmental anomalies

    Any condition caused by failure of the nervous system to correctly develop during the antenatal period.
    Related ICD 10 COde
    ICD 10 Code Q07.9

    ----------------------

    Related ICD 10 COde
    ICD 10 Code Q07.9

    ----------------------

    Related ICD 10 COde
    ICD 10 Code Q07.9

    Disclaimer   About Us.

    0.24446606636047