An unborn baby got a second chance at life after doctors saved them from a deadly genetic disorder known as vein of Galen malformation (VOGM), a rare blood vessel abnormality inside the brain where misshapen arteries connect with veins instead of capillaries, which slows blood flow and increases blood pressure. The condition can force blood to rush towards the heart or lungs while causing the heart to work overtime. The infant’s brain may also suffer from swelling, which can lead to injuries and the loss of brain tissue, including hydrocephalus (an enlarged head).
VOGM is considered extremely dangerous especially during the first four weeks of the child’s life. According to studies looking at all diagnosed cases of VOGM, one third of all patients do not survive, one third suffer moderate to severe neurocognitive compromise despite treatment, and only one third survive to adulthood without “significant compromise,” according to the Boston Children’s Hospital where the procedure was performed.
It was performed at 34 weeks gestation and was documented in a case study for the American Heart Association.
“In our ongoing clinical trial, we are using ultrasound-guided transuterine embolization to address the vein of Galen malformation before birth, and in our first treated case, we were thrilled to see that the aggressive decline usually seen after birth simply did not appear,” wrote lead study author Darren B. Orbach, co-director of the Cerebrovascular Surgery & Interventions Center at Boston Children’s Hospital and an associate professor of radiology at Harvard Medical School, in the news release.
The team carried out the operation by cutting into the womb and then the baby’s skull before ultimately operating on the infant’s developing brain. After cutting into the woman’s abdomen, the surgeons used an ultrasound to locate the baby’s artery.
“We were thrilled to see that the aggressive decline usually seen after birth simply did not appear,” said lead study author Darren B. Orbach.
The baby was born two days after the operation with no birth defects and limited complications at just 4.2 pounds, a few pounds lighter than the normal infant.
Three weeks after the birth, the baby had no signs of abnormal blood flow in MRI scans and needed no cardiovascular assistance.
“We are pleased to report that at six weeks, the infant is progressing remarkably well, on no medications, eating normally, gaining weight and is back home. There are no signs of any negative effects on the brain,” Orbach shared.
It was the first time this type of surgery has been performed on an infant. The FDA is currently working with the surgeons to test the safety and effectiveness of the procedure before expanding its use.
“As always, a number of these fetal cases will need to be performed and followed in order to establish a clear pattern of improvement in both neurologic and cardiovascular outcomes,” said Gary M. Satou, director of pediatric echocardiography at UCLA Mattel Children’s Hospital and co-director of the UCLA Fetal Cardiology Program who was not involved with the study. “Thus, the national clinical trial will be crucial in order to achieve adequate data and, hopefully, successful outcomes.”
“While this is only our first treated patient and it is vital that we continue the trial to assess the safety and efficacy in other patients, this approach 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,” Orbach said. “This may markedly reduce the risk of long-term brain damage, disability or death among these infants.”