Spina bifida

What is spina bifida?

Spina bifida is a congenital defect of the brain, spine or spinal cord that is caused by a neural tube defect (embryonic structure that eventually develops into the brain and spinal cord of the fetus, as well as the tissues that contain them). It usually occurs in the first month of pregnancy and is characterized by the failure of the spinal column to close completely.

There are two types of spina bifida:

  • Spina bifida occulta, characterized by a small defect or opening in one or more vertebrae, it presents with neurological symptoms (weakness in lower extremities, atrophies, poor sensitivity or altered reflexes), genito-urinary symptoms (incontinence or urine retention), orthopedic symptoms (deformities or size differences in the feet).
  • Open or cystic spina bifida: this is the most serious type, and usually presents with a cyst-like bulge in the back. Within this type are meningoceles and myelomeningocele.

Prognosis of the disease

This pathology can be mild or severe, depending on the size, location and complications. Normally, the higher the vertebra or vertebrae affected, the more serious the prognosis and the consequences it may have, among which are:

  • Neurological disorders such as hydrocephalus.
  • Syringomyelia – Alterations of the locomotor system
  • Disorders of the genito-urinary system.

Spina bifida is a congenital defect of the brain, spine or spinal cord.

Symptoms of spina bifida

The symptoms of spina bifida are not the same in all patients; some need orthopedic devices, crutches or wheelchairs; others have urinary and intestinal problems; hydrocephalus, etc. Depending on the type of spina bifida, we differentiate:

  • Spina bifida occulta: there are usually no symptoms, although signs can be observed on the baby’s skin.
  • Meningocele: in this case the membranes surrounding the spinal cord protrude to form a sac of fluid.
  • Myelomeningocele: the spinal canal is left open; the membranes and cord protrude into a sac; tissues and nerves are often exposed.
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Medical tests for spina bifida

Spina bifida can be detected during pregnancy through three tests:

  • AFP test (AFP is a protein produced by the baby and placenta during gestation, some of which enters the bloodstream); it is performed in the second trimester and consists of measuring the level of protein in the mother’s blood. This test is not conclusive. This test can be complemented with the analysis of human chorionic gonadotropin (HCG), estriol and inhibin A.
  • Ultrasounds, which are also inconclusive.
  • Amniocentesis; consists of extracting amniotic fluid from the fetal sac for analysis.

To confirm spina bifida (occult) after birth, different tests can be performed, such as ultrasound, MRI or CT scan.

Amniocentesis involves removing amniotic fluid from the fetal sac for testing.

What are the causes of spina bifida?

The causes of neural tube defects are not known, but several risk factors are known, such as obesity, poorly controlled diabetes, and certain seizure medications. It is thought to run in families.

Can it be prevented?

Taking folic acid (found in most multivitamin supplements) may reduce the risk of having a baby with spina bifida.

Treatments for spina bifida

Treatment of spina bifida will depend on the severity of the case. Spina bifida occulta may not require treatment, but other types may.

The main treatment is surgery, and it can be performed before birth (fetal surgery), specifically before the 26th week of pregnancy. It should be noted that the nerve function of a baby with spina bifida may worsen after birth if left untreated.

Spina bifida can be treated with surgery. In the case of meningocele, surgery after birth consists of putting the meninges in place and closing the opening of the vertebrae. In the case of myelomeningocele, surgery is performed to minimize the risk of infection by exposing the nerves.

What specialist treats it?

The specialist who usually treats spina bifida is the neurosurgeon.