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Spina Bifida

What is Spina Bifida?

Spina bifida is a congenital condition (birth defect) in which there is abnormal development of the back bones, spinal cord, surrounding nerves, and the fluid-filled sac that surrounds the spinal cord. This is a neurological condition that causes a section of the spinal cord and the surrounding structures to develop outside, instead of inside, the body. The defect can occur anywhere along the spine.

Types of Spina Bifida

The severity of spina bifida depends on the type, size, location, and complications. Spina bifida can occur in different forms, including:

  • Spina bifida occulta: This is a mild form of spina bifida where the spinal cord and the surrounding structures remain inside the baby, but the backbones in the lower back region fail to develop normally.
  • Meningocele: This is a moderate form of spina bifida where a fluid-filled sac is noticeable outside of the back region. The sac does not consist of the spinal cord or nerves.
  • Myelomeningocele: This is a severe form of spina bifida where the spinal cord and nerves grow outside of the body and are contained in a fluid-filled sac that is noticeable outside of the back region.

 Causes of Spina Bifida

Spina bifida is a type of neural tube defect (birth defects of the brain, spine, or spinal cord). Doctors are uncertain about what causes spina bifida. However, scientists deem it to be a result of a combination of environmental risk factors and genetics, such as a family history of neural tube defects and deficiency of folic acid (a type of vitamin B) in the mother's body. Also, women with obesity and poorly managed diabetes are more likely to have a baby with spina bifida.

Additional risk factors of spina bifida may include:

  • History of miscarriage
  • Exposure to hazardous chemicals and substances
  • Maternal age: Teenage mothers are at higher risk
  • Birth order: First-born infants are more vulnerable
  • Socioeconomic status: Children born into lower-income families are at higher risk due to poor nutrition

Signs and Symptoms of Spina Bifida

Signs and symptoms noted in infants with spina bifida may include:

  • Bowel incontinence
  • Urinary incontinence
  • Paralysis or weakness in the legs
  • Lack of skin sensation
  • Hydrocephalus (accumulation of cerebrospinal fluid within the brain ventricles causing enlargement of the head).
  • Problems with visual and physical coordination
  • Problems with cognitive skills
  • High risk of meningitis 

Diagnosis of Spina Bifida

Diagnostic tests can be performed during pregnancy to evaluate the fetus for spina bifida. These tests include:

  • Blood test: A sample of the mother’s blood is analyzed to see if the blood has a protein called AFP (alpha-fetoprotein) that the baby produces. If the level of AFP is found to be high, it could mean the baby has spina bifida or neural tube defect.
  • Prenatal ultrasound: A diagnostic imaging technique that uses high-frequency sound waves to form images of tissues, blood vessels, and organs on a video monitor. If the baby has spina bifida, you may notice an open spine or a sac poking out of the spine.
  • Amniocentesis: If the ultrasound looks normal but the blood test shows abnormal levels of AFP, your physician may recommend an amniocentesis. During amniocentesis, a needle is used to take a small amount of amniotic fluid from the amniotic sac around the baby. If abnormal levels of AFP are found in that fluid, it indicates a neural tube defect.

The doctor may also recommend x-rays and MRI scan to obtain more detailed images for further verification.

Treatment of Spina Bifida

The main objective of spina bifida treatment is to prevent infection and to protect the spinal cord and nerves that are exposed outside of the body. The treatment depends on several factors, including severity of the condition and involves both surgical as well as non-surgical options:

Surgical Options

Cesarean section: A cesarean delivery is performed to decrease the risk of damage to the spinal cord that may occur during vaginal delivery. C-section is a procedure in which an infant is delivered through an incision in the mother's abdomen and uterus rather than through the vagina.

Surgery before birth: Fetal surgery or prenatal surgery is performed before the 26th week of pregnancy in which a pregnant mother’s uterus is surgically exposed and the baby’s spinal cord is repaired.

Surgery after birth: Conditions like hydrocephalus, myelomeningocele, and meningocele require surgery after birth.

  • Myelomeningocele involves surgery to place the exposed tissue and spinal cord inside the infant’s body and covering them with muscle and skin.
  • Hydrocephalus: A majority of babies with myelomeningocele will also have hydrocephalus. Treatment of hydrocephalus requires a surgical procedure for placement of a ventriculoperitoneal (VP) shunt, a medical device that allows fluid in the brain to drain into the abdomen and relieve pressure caused by accumulation of CSF fluid in the ventricles of the brain.
  • Bowel and bladder problems: This involves surgery to improve function in elimination, for incontinence, constipation, or when the bladder does not empty completely.
  • Orthopedic problems: This involves surgery to treat curvatures in the back, hip dislocations, ankle and foot deformities, and contracted muscles.

Non-surgical Options

Not all infants will require surgical treatment for spina bifida. Nonsurgical management of spina bifida may involve:

  • Rehabilitation and physical therapy to strengthen muscles
  • Use of positioning aids to assist the child with sitting, standing, or lying
  • Use of assistive devices, such as braces, crutches, and splints to prevent deformity, promote support and protection
  • Use of medications, enemas, suppositories, catheters for bowel and bladder management