Spina Bifida 101

There are classes you never want to take, but it is amazing how fast you can learn a subject when you need to. We have learned a lot about spina bifida in the last 10 days. Here is a little bit of what we know so you can better understand what we are talking about.

Spina bifida is a serious birth defect that occurs when tissue surrounding the developing spinal cord of a baby doesn’t close properly. It is part of a group of birth defects called neural tube defects where a portion of the neural tube (brain and spinal cord) fails to develop or close properly. In our baby’s case the opening is at an L3 level, which is 3 vertebrae above the tail bone.

There are three forms of spina bifida: Spina bifida occulta, Meningocele, and Myelomeningocele. The first two are more mild as the spinal cord and nerves are usually still intact. The form our baby has is the more common, Myelomeningocele, which is what most people are referring to when they say “spina bifida.” This is the one in which the spinal canal remains open along with several vertebrae in the lower or middle back. Because of this opening, both the membranes and the spinal cord protrude at birth, forming a sac on the baby's back. In some cases, skin covers the sac. Usually, however, tissues and nerves are exposed. The sac on our baby’s back is clearly visible via ultrasound. I noticed it before being told what it was by the doctor, but thought it was a large air bubble. Ultrasound is very effective today at detecting spina bifida and assessing its severity, so we are confident the doctors have made a correct diagnosis. The ultrasound we had was both 3D and 4-D.

There are many factors which affect the severity of complications of spina bifida. Some factors are:
The size and location of the neural tube defect
Whether skin covers the affected area
Whether spinal nerves come out of the affected area of the spinal cord
We do not know the answer to all these questions and may not until after our baby is born and some may not be answered until much later as our baby grows.

Complications of spina bifida widely range based on the factors above. However, the vast majority with a lesion like our baby’s include:
- Partial or complete paralysis of the legs – children with this form of spina bifida may need crutches, braces or wheelchairs.
- Lack of normal bowel and bladder control
- Hydrocephalus – fluid on the brain. – Most babies with myelomeningocele have this accumulation of fluid on the brain due to the Chiari brain malformation that usually accompanies spina bifida. Most will need shunts (a surgically placed tube) to drain this fluid into the abdomen. I read that babies with an L1 lesion or above all required shunts, and those with and L4 or below rarely did.
- Meningitis – infection in the tissues surrounding the brain may cause brain injury and can be life-threatening.

The current standard of care is to deliver the baby via c-section. This minimizes additional damage to the nerves during birth. The baby will have surgery in the hours or days after her birth. A neurosurgeon places the spinal cord and exposed tissue inside the body and covers them with muscle and skin. This surgery is performed quickly to minimize the risk of infection of exposed nerves, and to protect the spinal cord from trauma. A shunt for hydrocephalus is usually needed within the first week of life as well.

The lack of nerve development, or damage to the nerves is irreparable, so on-going care is necessary. Loma Linda University Medical Center, where we are being seen, has a spina bifida clinic. Their surgeons, physicians, therapists will be involved with planning our baby’s care after birth.

These are the likely scenarios our baby will face, though we know there are more mild and more severe outcomes. We will love our baby whether she has more mild or more severe complications. We are just preparing for what the likely outcomes will be. We are also looking into the current clinical trials being conducted called the Management of Myelomeningocele Study (MOMS). They are studying the benefits of doing the repair surgery before birth. I’ll try to blog more about that another day.