Understanding Spina Bifida
What is spina bifida?
Spina Bifida occurs when a baby’s developing spine does not close within the first month of pregnancy. The spinal fluid and spinal cord then fill a soft sac covered with thin skin on the baby’s back.
- Occurs in 1 in 2,000 infants in the United States
- Is the most common birth defect of the central nervous system (CNS), and can affect both the spinal cord and brain
- Often diagnosed after the alpha-fetoprotein (AFP) test around 15 weeks gestation and seen on screening ultrasound
What are the types of spina bifida?
Spina Bifida defect can be closed (covered by skin) or open (without skin covering the defect). Open defects, often called open neural tube defect (ONTD) expose the spinal cord and nerves to the amniotic fluid which leads to inflammation and damage.
- Myelomeningocele (MMC) is the most common ONTD and severest form because the spinal cord and nerves push out through the open back, only covered by a thin membrane
- Myeloschisis is another less common ONTD, often flat and wide without a sac
- ONTD may qualify to be repaired by fetal surgery
How does spina bifida affect the baby?
Normally, the spinal cord sends nerves to the legs, bladder, and anus. A baby who has spina bifida may not have some of these connecting nerves, causing:
- Bladder and bowel problems: many babies have problems with urination (pee) and constipation (unable to poop)
- Leg weakness: some or all of the baby’s leg muscles may not work as well as they should
- Lack of feeling in the skin: some babies may not feel pressure, pain, heat, or cold in their legs and feet
- Orthopedic issues: may occur such as club feet or problems with the hips and knees
- Chiari II Malformation: is where a portion of the lower part of the brain, cerebellum, herniates down into the spinal canal. This can lead to fluid collecting in the open spaces (ventricles) in the center of the brain, putting pressure on the surrounding brain tissue, called hydrocephalus
Fetal Center: the first step in spina bifida care
Multidisciplinary Evaluation: meet with MFM specialist, pediatric neurosurgeon, neonatologist, and other experts who will care for the baby
Comprehensive Imaging: detailed ultrasounds and fetal MRI along with other tests to assess the baby's condition and help plan treatment
Coordinated Delivery Planning: our team works to ensure the baby receives immediate specialized care at birth
How is spina bifida evaluated?
A mother who's fetus has spina bifida will undergo evaluation at the fetal center that includes:
- Comprehensive high-resolution ultrasound: this will help confirm the diagnosis, identify the location of the defect, and look for other defects that may be present
- Fetal MRI: this will help the team look for associated problems with the brain such as Chiari II malformation and other defects, as well as look closer at the spine
- Fetal Echocardiogram: which allows the team to see if there are any heart problems
- Amniocentesis: this test will help look for any possible genetic disorders that may also be present
After these tests are completed, the mother will meet with a multidisciplinary team, including, MFM, pediatric neurosurgeon, pediatric surgeon, anesthesiologist, and neonatologist who will review the results and discuss treatment options, including the possibility of fetal surgery. Here they will also answer questions.
(pic: ultrasound of a fetus with an ONTD seen between the arrows)
What is the treatment for spina bifida?
Treatment of the baby will depend on the results of tests as well as the discussion with the multidisciplinary team, and typical includes:
- Fetal repair: which is done while the baby is still in the uterus, and can be done through a big incision on the uterus (open) or through several small incisions on the uterus (fetoscopic)
- Neonatal repair: which is done after the child is born, usually within the first couple days of life
Our team is capable of performing either of these surgical options. A comprehensive discussion will occur to discuss the benefits and risks of the different treatment options. With the parents, the team will decided on a plan taking into consideration what is best for both the mother and baby.
(pic: our fetal team performs an open fetal MMC repair)
Fetoscopic MMC repair in Utah!
Laparotomy assisted fetoscopic myelomeningocele (MMC) repair
We offer laparotomy assisted fetoscopic MMC repair. This approach gives direct access to the uterus:
- The repair occurs through small incisions on the uterus
- Allows the surgical team to avoid the placenta and permits careful management of the membranes
- The MMC is repaired in a 3 layer, watertight fashion
- The mother can deliver vaginally as permitted and have normal subsequent pregnancies.
We can do both the open and fetoscopic approach
Although the fetoscopic repair was described over a decade ago, we held off offering it for a couple of reasons. First, we wanted to be able to perform the open repair, which was the standard of care. We have accomplished this and feel comfortable doing open as well as fetoscopic repairs.
Our fetoscopic MMC repair is done similar to an open repair
Second, we wanted to be able to offer a repair that was equivalent to the open repair for the child as reported in the Management of Myelomeningocele Study (MOMS), mainly:
- Reversal of hindbrain herniation (Chiari II Malformation)
- Significant reduction in the need for a ventriculoperitoneal (VP) shunt
- 1 - 2 level neurologic improvement
- Low rate of wound revision
- Low rate of spinal cord tethering
The minimally invasive approach is gentler on the Uterus
Finally, we believe that the approach we offer has better outcomes for the mother as those reported in the MOMS trial, primarily:
- Lower occurrence of membrane separation
- Lower rate of preterm premature rupture of membranes (PPROM)
- Less preterm labor resulting in early delivery
- Delivery closer to term (34 - 37 weeks)
- Higher rate of vaginal delivery
- Normal subsequent pregnancies if desired
What about long-term care?
Long-term follow-up is imperative to allow for children with spina bifida to have the best possible outcomes.
Primary Children’s Hospital has a long standing Spina Bifida Program that has pediatric specialists experienced in treating spina bifida. Our team closely monitors the child's physical, social, and mental development with the help of nurses, therapists, and psychologists. Nutrition and proper weight management are crucial for children with spina bifida, which is why dietitians keep track of the child's growth.
Our well-rounded care team supports your family every step of the way, including:
- Bowel and bladder management
- Lower extremity bracing
- Physical therapy evaluation with early intervention
- Pressure sore management
- Appropriate psychosocial and financial resources
- Consultation with other subspecialties including ophthalmology, nephrology, nutrition and feeding specialists, and plastic surgery
In addition, our transition program assists teenagers with spina bifida in becoming more independent. We focus on helping them achieve key developmental milestones that improve their growth, academic success, and social connections.
(pic: Dr. Fenton with one of our patients who underwent fetal repair)
