When Nicole Starling was 18 weeks pregnant, she found out she was having a girl. And she learned that her baby girl had myelomeningocele, the most severe form of spina bifida, a birth defect that occurs when the spine and spinal cord don’t form properly.
“At first, we were super excited to hear we were having a baby girl,” Starling says. “But then they told us about the spina bifida.”
As a certified nursing assistant, Starling knew a little about spina bifida, but she wanted to learn more. She was referred to the Maternal-Fetal Medicine program at UNC Health, which is where she learned about the possibility of spina bifida surgery on the baby in utero, or during pregnancy.
Understanding Spina Bifida
Babies with spina bifida have an opening in the spine, meaning the spinal column doesn’t develop normally. The opening can be located anywhere from the upper back to the bottom of the spine. This forms very early in a pregnancy, around 26 to 28 days after conception.
The spinal cord and surrounding tissues protrude through the opening in the spine and are not covered by skin.
This means the baby’s spine and nerves are exposed to the area the amniotic fluid, which is the fluid surrounding a baby in the womb that helps protect the baby from bumps and injury. Because the baby’s spine and nerves are not protected, injury to these sensitive areas is possible as the baby develops.
“Over the course of the pregnancy, there can be continuing ongoing injury to those nerves. They have not formed correctly at the beginning, and then they can continue to get worse as the pregnancy progresses,” says UNC Health maternal-fetal medicine doctor William Goodnight, MD.
Complications of spina bifida can include problems walking, muscle weakness and even paralysis. People with spina bifida may also have scoliosis, abnormal growth, and bladder and bowel problems.
A common complication of spina bifida is called hydrocephalus, which leads to excess cerebrospinal fluid and pressure building up in the brain. It results from another condition called a Chiari 2 malformation, when part of the brain sinks into the upper spinal canal. Hydrocephalus can cause brain damage and developmental problems and is the leading cause of death and disability in people with spina bifida.
The spina bifida sets up the problem that can lead to the extra fluid building up in the brain, both through the pregnancy and after the baby is born, Dr. Goodnight says.
UNC Health pediatric neurosurgeon Scott Elton, MD, says hydrocephalus occurs in 80 percent of children with spina bifida, requires lifetime management when it develops and often requires multiple surgeries.
In Utero Spina Bifida Surgery
Although there is no cure for spina bifida, some babies may be candidates for in utero repair of the opening in the spine with resolution of the Chiari malformation, significantly reducing the chance of developing hydrocephalus, which may help them live with fewer symptoms and avoid future surgeries.
“Prenatal surgery eliminates hydrocephalus in a significant number of children,” Dr. Elton says. “These kids are not coming back to the hospital with issues related to hydrocephalus because they simply don’t have it.”
In addition to mitigating the risk of hydrocephalus, prenatal surgery helps prevent the exposed nerves from further damage.
“If the nerves stay exposed through the course of pregnancy, they continue to get more injured and more scarred and may have less function than if the spina bifida is closed in the middle of pregnancy,” Dr. Goodnight says.
The surgery is most effective during the middle of pregnancy, between 20 and 26 weeks.
Best Candidates for Prenatal Spina Bifida Surgery
Doctors use several factors to determine whether a woman and her baby with spina bifida are candidates for in utero fetal repair. In addition to identifying the spina bifida, the maternal-fetal team needs to confirm there is also a Chiari malformation. They also need to make sure there are not other compounding complications with the baby, including other genetic or structural issues that might reduce the chance that the baby will benefit from surgery.
Then the team determines whether the surgery is safe for the mother.
“This is a big surgery for mom, so between anesthesia, the surgery and the long recovery, we have to determine if mom has other medical problems that could influence her health and if those could be worsened by the fetal surgery or make the surgery more risky,” Dr. Goodnight says.
The third factor in determining a candidate for surgery is whether the mother has a strong support system.
“It definitely disrupts her life during the course of the pregnancy, so we need to know that she has a support group to help care for her and any other kids at home,” Dr. Goodnight says. “Mom needs to be able to have that support.”
A Little Girl with a Lot of Spunk
Starling met all the criteria, and on Aug. 18, 2015, when she was 24 weeks pregnant, the maternal-fetal team at UNC Health performed a cesarean-type incision on her lower abdomen to expose her baby’s spina bifida defect. Starling received medications to help prevent preterm labor and antibiotics to prevent infection, and the procedure was performed with general anesthesia.
“We don’t see the entire baby—just the spina bifida defect,” Dr. Elton says. “I repaired the defect, Dr. Goodnight closed off the C-section, and mom went to recovery until she was discharged.”
During the procedure, Dr. Elton covered the defect in the spinal cord with the dura (a tough, dense membrane surrounding the spinal cord) and then created skin flaps to cover it.
While moms who have the surgery typically come back around 36 weeks to have a C-section to deliver the baby, Starling’s baby decided to come a few weeks ahead of schedule.
Mackenzie was born at 32 weeks.
“A lot of these pregnancies deliver at 32 to 34 weeks, but by and large these kids do really well even if they’re born a little earlier because we have a great NICU,” Dr. Elton says.
This has been the case for Mackenzie.
“Everything went great in the NICU, and since then Mackenzie has done extremely well with all the checkups that we get for spina bifida. The brain MRIs have showed no hydrocephalus, and other than the fetal surgery, she’s had no other surgeries so far,” Starling says.
Today, Mackenzie is a spunky 4-year-old who loves soccer and wants to grow up to be a nurse or a doctor.
“I really think it has to do with being around so many doctors, nurses and caregivers,” Starling says. “She is the most determined little girl I’ve ever known in my life. Even with everything she’s been through, with all the doctors’ appointments, the blood draws, X-rays and MRIs, she has been the most outgoing, funny, sassy, take-it-in-stride little girl. She just loves life.”
Want to learn more about prenatal surgery for spina bifida? Talk to your doctor or contact UNC Maternal-Fetal Medicine at (984) 974-2131.