A rare, potentially fatal prenatal condition

When Derek and Kenyatta Coleman, a couple from Louisiana, became pregnant again, they were expecting things to progress as normal. Throughout the pregnancy, there seemed to be no sign of issues, with Kenyatta saying that the "[b]aby was doing well" and that both the anatomy and biophysical profiles had come back "unremarkable." Genetic testing also suggested that the pregnancy was "low risk."

However, at their 30-week ultrasound, the Colemans were told their baby had a potentially life-threatening condition called vein of Galen malformation (VOGM). VOGM is a rare prenatal condition in which misshapen arteries in the brain connect directly to veins rather than capillaries. This causes high-pressure blood flow that can lead to heart failure, severe brain injury, or even death.

According to research on VOGM, during the first four weeks of a child's life, around a third of patients with the condition do not survive, and a similar number will experience moderate to severe neurocognitive compromise, even with treatment. Only a third of these children will survive until adulthood without significant problems.

"All of a sudden there's this enormous burden placed right on the newborn heart," said Darren Orbach, a radiologist at Boston Children's Hospital. "Most babies with this condition will become very sick, very quickly."

How a fetal surgery may have saved this baby's life

After receiving the VOGM diagnosis, the Colemans decided to join a clinical trial being run by Boston Children's Hospital and  Brigham and Women's Hospital. The trial was designed to test whether fetal brain surgery could successfully treat VOGM.

On March 15, Kenyatta, who was 34 weeks pregnant at the time, underwent the experimental operation with a team of 10 doctors. She received spinal anesthesia but remained awake during the operation as the doctors worked on her fetus.

Using ultrasound guidance, the medical team guided a needle and tiny coils through her abdomen, the uterus wall, and the fetus's skull, directly into the abnormal blood vessels to stop blood flow. During the surgery, the team closely monitored blood flow in the fetus's brain to ensure that it returned to healthy levels before they stopped injecting the coils and removed the needle.

Two days later, the baby, a girl named Denver, was born without birth defects and limited complications. Although Denver remained in the NICU for several weeks, she had a "normal neurological exam," and there were "no strokes, fluid buildup or hemorrhage on a brain MRI," said Orbach, who was on the surgical team.

"The best part was when she was born, just seeing her in the NICU be fine and, you know, we would all sort of look at each other and pinch ourselves," Orbach said. "We were not sure when it was OK to celebrate because you just don't see that with these babies. So that was really the moment that we knew that all was going to be great."

Since being discharged, Denver has not needed any medications or additional treatments and is eating and gaining weight normally.

Reaction

So far, health experts have expressed excitement about the success of the surgery and the potential for it to help other children in the future. According to Orbach, the technique "has the potential to mark a paradigm shift in managing vein of Galen malformation, where we repair the malformation prior to birth and head off the heart failure before it occurs, rather than trying to reverse it after birth."

"This may markedly reduce the risk of long-term brain damage, disability or death among these infants" with VOGM, he added.

Timo Krings, a neuroradiologist at the  University of Toronto, shared similar sentiments, saying that the approach could give "a chance to kids who would otherwise have very little possibility of survival."

Gary Satou, a fetal cardiologist at the  University of California, Los Angeles, commented that the groundbreaking in-utero intervention may be "very impactful" for patients with VOGM. However, he noted that more successful cases are needed to establish "a clear pattern of improvement in both neurologic and cardiovascular outcomes."

Similarly, Colin Derdeyn, a neuro-interventional radiologist at the University of Iowa, said that "[o]ne successful case is not enough experience for us to conclude that the risks of this procedure are worth the benefits."

However, he added that the positive hemodynamic changes observed in the fetus during and after the surgery are "really encouraging" and that the case report showcases "pioneering work being done in a very careful and responsible way."

In the future, similar operations could also be used to treat other fetal conditions, including brain tumors. In fact, Mario Ganau, a consultant neurosurgeon at Oxford University Hospitals, said that "many conditions that we deal with in the very first weeks of life" could potentially be treated in the uterus instead.

Orbach agreed, saying that the current surgery had "such a dramatic outcome that I'm certainly hopeful and optimistic." (Hamzelou, MIT Technology Review, 5/4; Steinberg, New York Post, 5/4; Shaheen, Daily Mail, 5/4; American Heart Association, 5/4; Jerusalem Post, 5/7; Marshall, CBS News, 5/5; Reilly, Fox News, 5/4)

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