‘She’s wiggling her toes’: New fetal surgery for spina bifida may be safer for both baby and mom

LOS ANGELES — Gilda Giron was 13 weeks pregnant and barely showing when she started to worry. Something wasn’t right with her ultrasound image. At 16 weeks, Gilda and her husband, Arnuf, received the devastating news: Their baby had myelomeningocele, the most severe form of spina bifida. Her tiny spinal cord was open, exposed and leaking fluid. The birth defect meant she had nerve damage that could cause paralysis and an inability to control her bladder or bowels. She faced spending life with a shunt implanted in her brain.

Many parents who receive a diagnosis of spina bifida early in pregnancy choose to terminate. But Arnuf and Gilda, who works with disabled people, were determined to keep their baby. They turned to the next option: surgery in the womb to repair the defect.

The fetal surgery for spina bifida is complex. Because it requires cutting through the mother’s abdomen and uterus, like a C-section, it involves a long recovery, something that would have been difficult for Gilda, who has two other young children. The “open surgery” carries some risk of premature birth and complications during birth. It also means having a cesarean, for this and any future births because of the risk of uterine rupture.

In their extensive research, the couple found a few hospitals — Texas Children’s and Johns Hopkins among them — offered a new, less-invasive surgery that opened the mother’s abdomen but required only tiny incisions to the uterus; the delicate surgery on the fetus was done with specialized instruments placed through the holes. But the Girons’ insurance would only pay for the conventional procedure, which involved traveling to San Francisco from their home in the Los Angeles suburb of Whittier.

Gilda, 35, was frantic. Because the operation is ideally done about 25 weeks into pregnancy, the Girons had just a few weeks to decide what to do and figure out if they’d need to move their family out of state and burn through their savings to pay for the newer surgery. Then one day, out of the blue, their obstetrician offered an alternative. A pilot study for a new kind of fetal surgery for spina bifida — one that would be much easier on Gilda — had just been launched, and the procedure would be covered by their insurance. Better still, the study was occurring right in town, at the University of Southern California and Children’s Hospital Los Angeles.

Gilda and Arnuf, 34, immediately went to meet the lead surgeon, Dr. Ramen Chmait, a veteran fetal surgeon who directs the Los Angeles Fetal Surgery program.

“I went into the meeting saying, ‘I want to do this, I just don’t want to be the first one,’” Gilda said. “He said, ‘Well, you are the first one.’”

Gilda underwent the experimental operation this past February, and she and the surgeons talked about it for the first time last week with STAT — a week after their baby, Abigail, was born.

For decades, the standard treatment for babies with spina bifida was to operate on them after birth to patch the opening of their spinal cords. But a lot of damage can occur in the womb: There can be too much or too little cerebrospinal fluid around the brain, the brain can move out of place, and exposed nerves can get damaged. Most babies with spina bifida who are operated on after birth require lifelong shunts to control brain swelling and have problems walking and controlling their bladder and bowels. This wasn’t what Gilda and Arnuf wanted for their baby girl.

Doctors had long thought they could do better. In 2002, a trio of U.S. hospitals started a randomized clinical trial, known as the MOMS trial, to see if babies with spina bifida fared better if they were operated on in the womb. They set out to treat 200 fetuses but stopped the trial early because the results were so conclusive that fetal surgery was better: Babies operated on in utero were less likely to require shunts and more likely to be able to walk without crutches or braces.

After the landmark results were published in 2011, fetal surgery for spina bifida became the standard of care. It’s a procedure now offered at about a dozen medical centers around the U.S, but it increases both maternal risk and the risk of premature birth. As a result, some parents still choose to wait until after birth to operate.

In 2014, surgeons at Texas Children’s Hospital started performing a spina bifida repair surgery in which the mother’s abdomen is opened, but the uterus remains intact. The uterus is pulled out of the abdomen and puffed full of carbon dioxide. Endoscopic surgical tools called trocars and a tiny camera are then inserted into the uterus through small holes.

After doing some 50 of these “fetoscopic” procedures, Dr. Michael Belfort, the surgeon who pioneered this approach, said he believes it is equivalent to the open surgery in terms of helping the fetus, although more long-term data are needed, and said the obstetric benefits are “immense.” But it still means the mother must withstand a major surgical incision to her abdomen. Chmait wanted to go one step further. He didn’t want to slice open the abdomen at all.

Chmait has done thousands of fetal surgeries. He’s treated fetuses with broken heart valves, lung tumors, blocked bladders, and teratomas growing on their tailbones. He’s used lasers to carefully tease out the abnormal blood vessels that sprout when identical twins share a placenta. Even the most delicate of these procedures require only minimally invasive, endoscopic surgery. It’s long bothered him that a spina bifida repair is the only fetal surgery that still required opening the abdomen. “We always thought this should be next in line,” he said.

About a decade ago, Chmait heard about a pioneering Brazilian scientist and surgeon, Dr. Denise Lapa, who had spent years developing a way to repair spina bifida in the womb without making large incisions in the uterus or the abdomen. (Brazil, where abortion is illegal and malnutrition is more common, has a high rate of spina bifida.) Lapa has done nearly 100 of the surgeries and, according to Chmait, helped with the first one performed in the United States, at New York-Presbyterian Hospital last year; it was not publicized.

For years, Chmait has traveled to Brazil to observe and learn the technique, in which the uterus and fetus remain inside the body during the procedure. He practiced on a setup invented at Texas Children’s: a baby doll covered in chicken skin and inserted into a rubber ball. After spending years getting approval from the Food and Drug Administration as well as the four institutions involved in the study — Children’s Hospital LA, Keck Medicine of USC, Huntington Hospital in Pasadena, and Wellington Regional Medical Center in Florida — Chmait was ready to proceed.

There were still uncertainties. The baby’s spinal cord lesion had to be imaged to make sure she qualified for surgery. Ultrasounds showed she didn’t have enough fluid to cushion her brain. “Those five weeks felt like a long time,” Gilda said.

On Feb. 19, the surgery was done at Huntington Hospital. Lapa flew in to observe, support, and cheerlead, an addition to the operating room that thrilled the nervous mother.

It’s a long surgery — it takes a full hour just to insert the trocars, remove amniotic fluid, and inflate the uterus, Chmait said. The procedure went smoothly. Assisted by pediatric neurosurgeon Dr. Jason Chu from Children’s Hospital LA, Chmait dissected out the spinal cord and nerves that were exposed. As he operated, he could see the cerebrospinal fluid leaking out in large drops. Chmait and Chu gently placed the spinal cord back in position and covered the opening in the baby’s back with a collagen patch. Chmait then sewed the baby’s skin over the patch and replaced the amniotic fluid that had been withdrawn.

Throughout the six-hour procedure, Arnuf waited anxiously outside. As soon as the operating team came out, he knew it had gone well. “It was like an ’80s flick where the basketball team wins the championship,” he said. “There were high-fives all around. They didn’t even have to say a word.”

While the surgery was successful, the Girons remained nervous, because premature delivery was still a risk. They celebrated every week that passed. While they were hoping for a vaginal birth, Gilda was scheduled for a cesarean at 39 weeks. As the due date approached, the baby was both breech and facing the wrong direction, meaning Gilda would require not only a C-section, but the more onerous vertical cesarean.

At her 37-week check up, though, the baby had moved into a more ideal position. The physicians decided there was no reason to wait. They induced labor.

Abigail Coraline Giron was born at 9:22 a.m. on May 16 without the need for a C-section. She weighed 5.5 pounds, with a head covered with silky dark brown hair. The patch over her spinal cord was intact. No cerebrospinal fluid was leaking out. Her hips were in the correct position. But she had a frighteningly large wound on her back, and it wasn’t yet clear whether her brain was swelling. “We were a crazy mix of happiness and fear,” said Gilda.

“Every birth is a great experience,” she added. “But this was really, really emotional.”

Just a few hours after birth, Abigail was taken by ambulance across the street to the newborn and infant critical care unit at Children’s Hospital LA while Gilda waited an agonizing day to be discharged to join her.

When he first saw Abigail, Dr. Philippe Friedlich, director of the hospital’s fetal and neonatal institute, could barely believe his eyes. In 24 years at the hospital, Friedlich has cared for many babies with spina bifida who have corrective surgery after birth. “Most of the babies stay with us for a while. They have surgery, anesthesia, get catheters. They’re intubated and extubated and in and out of intensive care,” he said. “We didn’t have to do any of that with Abigail. This is life-changing for me.”

Will this new surgery soon become the standard treatment for spina bifida? Chmait feels certain it will. The team is planning the third surgery Tuesday and plans to do a total of 10 in the pilot study and then hopefully expand into a larger clinical trial. They will gather preliminary results on both mothers and babies over the next two years. Chu, the pediatric neurosurgeon, trained at Texas Children’s where he observed their procedure and has also done postnatal spina bifida repairs. While this approach is still new, he’s optimistic based on what he’s seen.

Dr. Nalin Gupta was the surgical lead for the MOMS study at UCSF Benioff Children’s Hospital, which pioneered fetal surgery and where the open procedure is still used. He’s encouraged to hear about the work in Los Angeles because it could limit risk to both mother and fetus. “Any procedure where maternal risk is lower is definitely valuable,” he said. But Gupta isn’t planning on changing his procedure until he sees more data on whether the babies fare as well after the minimally invasive surgery. He’s not yet convinced that endoscopic surgery allows for as much intricate anatomical work on the spinal cord and nerves as open surgery.

As she grows, Abigail will help provide those answers. As part of the study, her health and development will be followed closely for five years. Early indications look very good. There turned out to be no brain swelling at birth that required placement of a shunt. So far, she does not require a catheter to urinate.

When Dr. Alex Van Speybroeck, who directs the spina bifida program at Children’s Hospital LA, checked on Abigail a week after she was born, he pulled away her blanket and went directly for the area he was most concerned about — her feet. He was excited to see her moving them back and forth, like she was pushing a little gas pedal. “She’s wiggling her toes so much and she’s ticklish,” he said as he examined Abigail. “That’s great.”

Van Spaybroek will be monitoring the wound on her back, which is still healing, and the baby’s bladder function. The surgical repair of spina bifida can limit further harm caused by the defect but is not a cure for all damage that may have occurred early in fetal development. While it’s possible Abigail may need a brace, Van Spaybroek is optimistic she will be able to walk on her own.

“Abby is going to go home with no operative intervention at all, and is going home in about a week,” he said. “I have never seen that in my career.”

Abigail is expected to go home Tuesday or Wednesday. She was so healthy that she probably could have left the hospital in a few days, but she has stayed nearly two weeks so doctors could run tests needed for the study. After all, she is the first.