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Birth of a Breakthrough: Spina Bifida Video - CHOP

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Spina Bifida Facts: What is Spina Bifida?

What is spina bifida? N. Scott Adzick, MD, and other members of CHOP’s Center for Fetal Diagnosis and Treatment team discuss the facts about spina bifida and its most common form, myelomeningocele (MMC), as well as the complications it causes for the newborn. Spina bifida begins early in pregnancy with a failure of the skin to close around the spinal column, or neural tube. Movement and prolonged exposure to amniotic fluid cause damage to the exposed spinal cord. Another key spina bifida fact is that it can cause brain damage; leakage of cerebrospinal fluid from the opening in the spine can cause the lower portion of the brain to be drawn down into the spinal column. This, in turn, can block circulation of cerebrospinal fluid and cause fluid build up around the brain. After birth, ongoing complications of spina bifida can include paralysis, club feet, bowel and bladder problems, blue spells, breathing problems and other issues that affect quality of life.

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The Birth of a Breakthrough Video explores spina bifida diagnosis, treatment options, delivery and follow-up care at The Children’s Hospital of Philadelphia. Experts at CHOP’s Center for Fetal Diagnosis and Treatment have the world’s greatest collective experience in prenatal repair for spina bifida.
 

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Transcript: Spina Bifida Facts: What is Spina Bifida?


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N. Scott Adzick, MD: Spina bifida or a more severe form, myelomeningocele, is the most common central nervous system or neurologic birth defect in the world.

Mark P. Johnson, MD: Myelomeningocele is a defect in the spine. It's failure of the spinal cord to close.

N. Scott Adzick, MD: The spinal cord, or the neural tube as the embryologists say, forms very early in gestation, certainly before 8 weeks gestation. And spina bifida is thought to be a failure of the formation and closure of that neural tube. So that the spinal cord elements are exposed to the intrauterine environment.

Mark P. Johnson, MD: It's a progressive process. It's a progressive injury. So that by the end of pregnancy, there's been direct traumatic injury to the spinal cord, and there's been injury from the amniotic fluid itself.

Natalie E. Rintoul, MD: Because of changes in pressure and fluid flow, babies are also at risk for developing hydrocephalus.

N. Scott Adzick, MD: ...which is a fluid buildup on the brain and which damages the developing brain.

Leslie N. Sutton, MD: Virtually every child with myelomeningocele or spina bifida has an Arnold Chiari malformation on X-ray. And what it is, is that the back part of the brain called the "cerebellum" that has a lot to do with control of motor movements is wedged down into your neck.

N. Scott Adzick, MD: The cerebrospinal fluid that cushions the brain and cushions the spinal cord leaks out through the back through the open spina bifida defect. That leads to the back part of the brain getting sumped down into the upper part of the spinal canal. That, in turn, can block the circulation of cerebrospinal fluid in the brain because the fluid is produced in the brain and then there's no way for it to circulate beyond that blockage point.

Leslie N. Sutton, MD: So if there's a blockage in the flow of that fluid, then the water builds up inside the ventricle. So you've probably heard the term "water on the brain." The water isn't on the brain. It's inside the brain. If you don't treat that then you end up with the massively enlarged head. You die. Or you end up with severe mental retardation.

N. Scott Adzick, MD: So in order to minimize that ongoing damage of pressure from the fluid, the pediatric neurosurgeon places a shunt tube.

Leslie N. Sutton, MD: It's a simple device. This is a shunt. It's made out of silicone. This end goes through a hole in the back of the head, into that water cavity, and tunnels down under the skin, and goes into the abdomen which is able to absorb the fluid. It's not a cure. It treats the symptom. It doesn't treat the disease.

Natalie E. Rintoul, MD: Once you have a shunt there are multiple complications that can arise from it.

N. Scott Adzick, MD: The shunt can become infected, which is a serious complication because then the brain and the layers of the brain can become infected with meningitis encephalitis. And with each bout of infection, that can effect the brain function.

Leslie N. Sutton, MD: And then, of course, there are mechanical problems. They clog. They break. They get to be too short. They migrate.

N. Scott Adzick, MD: So it's not unusual for a child with spina bifida who has a shunt to require that shunt, and not only for life, but to have that shunt changed at least five or six times during the course of their life.

Mark P. Johnson, MD: It's important for parents to understand the potential complications or ramifications of spina bifida after the diagnosis is made.

Natalie E. Rintoul, MD: A child may experience difficulty with apnea, forgetting to breathe. They may also have breathing problems, choking, blue spells.

Leslie N. Sutton, MD: In the worst case, you end up with a child that's on a ventilator, with a tracheostomy, and a tube in the stomach to eat. And that is a huge impact on your quality of life.

Mark P. Johnson, MD: Spina bifida can cause paralysis in the lower extremities. That can interfere with the baby's ability to walk, or they may even be wheelchair dependent.

Natalie E. Rintoul, MD: They also have difficulty with their bowel and bladder function.

Leslie N. Sutton, MD: Most of these kids, when they become older, have to catheterize or else they have to wear diapers.

Mark P. Johnson, MD: They can develop significant curvatures of the spine because of instability — bony instabilities of the spine if they have a high lesion.

N. Scott Adzick, MD: Because of the lack of innervation to the feet and the ankles, there can be the formation of club feet, or the medical term is "talipes" as a consequence. So that requires orthopedic intervention after birth.

Leslie N. Sutton, MD: And then there are problems that can come on later on in life. It's not even necessarily done when you're a baby. You can get tethered cord, which means that the nerve tissue gets caught up in scar tissue, and you can lose function. So it's a lifelong issue of disability.

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