Birth Defect: Spina Bifida

Spina Bifida is a neural tube defect that affects nearly 1,500 newborns each year (CBC), with Hispanics being at a higher risk. It is characterized by a hairy patch, dimple, or an opening in the spinal column that does not properly close up during neural development, which begins at week 3 and ends at week 7.

The embryonic neural tube will develop into the brain and spinal cord. There are many neural tube defects that will occur during the neurulation process. By week 4 the neural tube is beginning to close, but in some cases an incomplete closing or incomplete formation of the spinal cord can occur.

Categories

Spina Bifida is classed in three different categories including:

  • Spina Bifida Occulta (hidden) is characterized, as one or more vertebrae are deformed or abnormal. A layer of skin will conceal the deformity, which normally does not cause any type of disability. This is also the most common type and affects around 10-20% of the population.
  • Closed Neural Tube Defect is characterized by the deformity of the spinal cord, which is pronounced by fat, meninges, or bone. The abnormalities and symptoms range from mild, with no symptoms to serious, with some paralysis noted. If paralysis is noted there will be a problem in the urinary and bowl function.
  • Spina Bifida Meningocele is characterized by a vertebral opening, where the spinal fluid and meninges is protruding. The symptoms will range from mild being asymptomatic, to very severe, with complete paralysis.
  • Spina Bifida Myelomeningocele is characterized by an opening in the spine, with exposures of the spinal cord and neural elements. In this case, partial or complete paralysis is inevitable.

Etiology

There is no genuine cause that is linked to Spina Bifida. Although, many scientists have linked it to the lack of or insufficient intake of folic acid (vitamin B). Heredity is also a factor. If the parent has been diagnosed with any form of Spina Bifida, this can increase the infant’s risk.

Complications

The complications of Spina Bifida will be based on the defect and severity of the deformity. If the spinal nerves are compromised, which is based on where the deformity is located. The higher the deformity along the spine, more nerves will be compromised. The complications will vary according to severity including:

  • Partial-Full Paralysis
  • Urinary and Bowell
  • Feeding and Digestive
  • Respiratory
  • Muscle Weakness
  • Learning and Cognitive Disabilities
  • Language
  • Scoliosis (curved spine)

Hydrocephalus or the buildup of pressure and cerebrospinal fluid in or around the brain is a major complication, which will require surgery to repair. A shunt will be placed in the brain, to assist in the draining of the cerebrospinal fluid into the abdomen.

Meningitis is also a life threating complications that can affect newborns with Spinal Bifida Myelomeningocele.

Genetic Testing

Alpha-fetoprotein is produced in the placenta and by the fetus. MSAFP is a blood test that is completed during the second trimester (14-26 weeks). If alpha-fetoprotein is positive in the mother’s blood, it is a high possibility that the baby may have Spina Bifida.

Amniocentesis may be ordered, as well during the second trimester. The amniotic fluid will be tested for any sign of genetic condition or birth defect.

Ultrasound is limited on what it can pick up, as far as the type and severity of the deformity, but can be very beneficial in detecting other conditions.

Fetal Surgery

Fetal surgery is a possibility, but it also holds many risks. This surgical procedure cannot restore or repair neurological function that is lost, but it can prevent further destruction of the nerves. While this surgery is currently an experimental procedure, it can reduce the chances of the baby requiring a shunt after birth.

After Birth

Many children will be faced with innumerable surgeries ahead of them to manage feet, hips, and spinal problems. If a shunt is placed at birth, it will have to replaced at some point in the child’s life, since the child will outgrow it. They also can become infected and require replacement.