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

Symptoms of Neural Tube Defects

The following features are indicative of Neural Tube Defects:
  • ringing in the ear
  • dizziness
  • nausea
  • facial pain
  • muscle weakness
  • impaired gag reflex
  • difficulty in swallowing
  • restless leg syndrome
  • sleep apnea
  • impaired coordination
  • pupillary dilation
  • abnormal tuft of hair
  • collection of fat
  • small dimple or birthmark
It is possible that Neural Tube Defects shows no physical symptoms and still is present in a patient.

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Common Causes of Neural Tube Defects

The following are the most common causes of Neural Tube Defects:
  • difficulty in focusing
  • fatigue
  • muscle weakness
  • genetic factor
  • environmental risk factors
  • folic acid deficiency

Risk Factors for Neural Tube Defects

The following factors may increase the likelihood of Neural Tube Defects:
  • Syringomyelia
  • family history of neural tube defects
  • having folate deficiency
  • using anti-seizure medications
  • women with diabetes
  • obesity

Prevention of Neural Tube Defects

Yes, it may be possible to prevent Neural Tube Defects. Prevention may be possible by doing the following:
  • avoid exposure to hazardous chemicals
  • get proper vitamins and nutrients in the diet
  • avoid alcohol consumption
  • get folic acid first in the early weeks of pregnancy
  • eat a healthy diet if you are pregnant or planning for pregnancy

Occurrence of Neural Tube Defects

Number of Cases

The following are the number of Neural Tube Defects cases seen each year worldwide:
  • Rare between 10K - 50K cases

Common Age Group

Neural Tube Defects most commonly occurs in the following age group:
  • Aged between 5-10 years

Common Gender

Neural Tube Defects can occur in any gender.

Lab Tests and Procedures for Diagnosis of Neural Tube Defects

The following lab tests and procedures are used to detect Neural Tube Defects:
  • Neurological exam: To examine how different parts of the body respond to different stimulus
  • Magnetic resonance imaging: To create an image of the brain and spine
  • Cine-MRI: To create an image of the flow of spinal fluid
  • Maternal serum alpha-fetoprotein (MSAFP) test: To check for myelomeningocele
  • Blood tests: To check the hormone levels
  • Ultrasound: To screen for spina bifida

Doctor for Diagnosis of Neural Tube Defects

Patients should visit the following specialists if they have symptoms of Neural Tube Defects:
  • Pediatricians
  • Neurosurgeons
  • Neurologists
  • Ophthalmologists
  • Medical geneticist

Complications of Neural Tube Defects if untreated

Yes, Neural Tube Defects causes complications if it is not treated. Below is the list of complications and problems that may arise if Neural Tube Defects is left untreated:
  • severe hydrocephalus
  • can be fatal
  • physical and neurological problems
  • meningitis

Procedures for Treatment of Neural Tube Defects

The following procedures are used to treat Neural Tube Defects:
  • Surgery: To put the meninges back in place and close the opening in the vertebrae
  • Prenatal surgery: Repairing the baby's spinal cord

Self-care for Neural Tube Defects

The following self-care actions or lifestyle changes may help in the treatment or management of Neural Tube Defects:
  • Get folic acid: Prevent spina bifida chances
  • Plan your pregnancy: Get a health diet to reduce the risk of birth defects

Patient Support for Treatment of Neural Tube Defects

The following actions may help Neural Tube Defects patients:
  • Educational intervention: Help your children for learning problems
  • Encourage your children: Encourage the children to participate in activities with their peers
  • Support group: Encourage the children to join the groups dealing with the same condition

Last updated date

This page was last updated on 2/04/2019.
This page provides information for Neural Tube Defects.
Brain Malformations
Chiari Malformation
Hydrocephalus
Spina Bifida

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