Little did she know, a baby girl living somewhere near Boston had already made history. The seven-week-old is one of the first people to undergo experimental brain surgery while in utero. It probably saved her life.
Before she was born, the little girl developed a dangerous condition that caused blood to pool in a 14mm-wide pocket in her brain. This condition can cause brain damage, heart problems, and difficulty breathing after birth. This can be fatal.
Her parents signed up for a clinical trial of surgical treatment in utero to see if doctors could intervene before these results emerged. It seems to work. The team behind the procedure now plans to treat more fetuses in the same way. Other similar brain conditions may benefit from the same approach. For these cases, fetal brain surgery may be the future.
The baby’s condition, called Galen’s venous malformation, was first discovered on a routine ultrasound scan at 30 weeks’ gestation. This condition occurs when veins connect to arteries in the brain. These two types of blood vessels have different functions and should be placed separately — arteries carry high-pressure, oxygenated blood from the heart, while thin-walled veins carry low-pressure blood in the opposite manner.
When the two are combined, high pressure blood flow from arteries can stretch the thin walls of veins. “Over time, the vein basically expands like a balloon,” says Darren Orbach, a radiologist at Children’s Hospital in Boston, Massachusetts, who treats babies born with the condition.
Blood Balloons
The resulting blood cells can cause serious problems for babies. “It’s stealing blood from the rest of the circulation,” says Mario Ganau, a consultant neurosurgeon at Oxford University Hospital in England, who was not involved in this particular case. Other parts of the brain can end up with brain damage from insufficient oxygenated blood, and there is a risk of cerebral hemorrhage. The extra stress on the heart to pump blood can lead to heart failure. Other organs can also be affected, especially the lungs and kidneys, Ganau said.
Fetuses with this disorder are thought to be protected to some extent by the placenta. But that changed from the moment the umbilical cord was clamped at birth. “Suddenly, there’s a huge load on the newborn’s heart,” Orbach said. “Most babies with this disease get very sick very quickly.”
Several teams are trying to treat the condition before it happens — while the fetus is still In utero. Auerbach is part of one such team. He and colleagues at Boston Children’s Hospital and Brigham and Women’s Hospital, also in Boston, registered a clinical trial in 2020 to test whether fetal brain surgery could help.
The girl’s mother was referred to Auerbach for a clinical trial. On March 15, at 34 weeks, she underwent the experimental procedure — a two-hour procedure involving numerous medical professionals.
First, the mother was given a spinal anesthesia to prevent her from feeling anything in the lower half of her body. Still, Orbach said, she remained conscious during the procedure. “She was listening to music with headphones on,” he said.
The second step involves physically moving the fetus in the womb to ensure frontal access to the brain. Before the procedure begins, the fetus is injected to prevent pain and movement.
Needle delivery
Doctors then use ultrasound imaging to help them guide a needle through the mother’s abdomen, uterine wall and fetus’ skull , into the deformity of the brain. Team members thread a tiny catheter through the needle, delivering a series of tiny platinum coils into the blood-filled pocket. Once each is released, it expands, helping to block the junction where the artery meets the vein.
As they worked, team members closely monitored blood flow in the fetal brain. Once they see it’s back to healthy levels, they stop injecting the coils and carefully remove the needle.
The baby girl was born healthy a few days later, said Auerbach, who co-authored a report published in the journal Stroke. Case Reports. She doesn’t need any deformity treatment. “The brain looks great,” he said. He told me that she was in the hospital under supervision for a few weeks and is now home doing well.
Consultant neurosurgeon at Cambridge University Hospitals NHS Trust, UK, who was not involved in the case. “We need to wait for more cases … to determine the risk, but I doubt that will be the way forward given the really poor outcomes [in newborns with severe malformations],” he said.
“This is a very exciting breakthrough,” says Greg James, a pediatric neurosurgeon at Great Ormond Street Hospital in London. Timo Krings, a neuroradiologist at the University of Toronto, shared his perspective. “It gives children a chance, otherwise they have little chance of surviving,” he said. Both added that it was important to find out who might be the best candidate for this type of fetal surgery. The procedure has risks, and is only worth it in severe cases with a good chance of recovery, for example.
Orbach and colleagues aren’t the only ones studying fetal brain surgery for venous malformations of Galen. Krings, who is conducting a similar trial with Karen Chen and her colleagues at Texas Children’s Hospital, has heard of another baby born in Paris through a similar procedure. Chen said she was aware of another unpublished attempt in Mexico, although that baby tragically died at 10 days old. “It’s a very hot topic,” Collins said. “It’s a bit of a race to see who gets published first.”
He said surgery like this could be useful in treating other diseases, such as other vascular problems or brain tumors. Ganau also believes that “many conditions that we encounter in the first few weeks of life” could potentially be treated in utero.
“It was such a dramatic result, I’m certainly hopeful,” said Orbach.
