Doctors perform first-ever, life-saving brain surgery on baby in womb

Doctors have saved a baby in the womb from a deadly genetic disorder with a first-of-its-kind brain surgery.

The baby was diagnosed with a vein of Galen malformation (VOGM) at 30 weeks.

VGOM is a rare blood vessel abnormality inside the brain in which misshapen arteries in the brain connect directly with veins instead of capillaries, which slows blood flow, and high-pressure blood can rush into the brain, according to Boston Children’s Hospital.

The extra pressure can cause a number of issues including rushing blood toward the heart and lungs which forces the heart to work overtime — and can cause congestive heart failure in some infants and rising blood pressure leading to pulmonary hypertension. It can also prevent the baby’s brain from draining accurately which can lead to brain injury and sometimes causing loss of brain tissue, and sometimes developing hydrocephalus — an enlarged head.

Increased blood pressure also increases the risk of heart disease over time.

According to studies looking at all diagnosed cases of VOGM in the neonatal period — the first four weeks of a child’s life — about one-third of all patients do not survive, about one-third suffer moderate to severe neurocognitive compromise despite treatment and only one-third survive to adulthood without “significant compromise,” the Boston Children’s Hospital said on its site.

The surgery, performed at 34 weeks and 2 days gestational age, was documented in a case study published in the American Heart Association’s journal Stroke.

“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,” lead study author Darren B. Orbach, M.D., Ph.D., co-director of the Cerebrovascular Surgery & Interventions Center at Boston Children’s Hospital and an associate professor of radiology at Harvard Medical School, said in a news release.

A team at Boston Children’s Hospital and Massachusetts General Hospital carried out the procedure on the fetus, cutting into the womb, then the baby’s skull and ultimately operating on the developing brain. After they cut into the pregnant woman’s abdomen, they used an ultrasound to locate the baby’s artery and help navigate the procedure.

The baby was born two days post-op with no birth defects and limited complications at 4.2 pounds, which is light for a newborn. Most babies are born full-term at 6 to 9 lbs, according to the American Pregnancy Association.

Three weeks after birth, the baby had no signs of abnormal blood flow shown 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.

Researchers and the Food and Drug Administration (FDA) are working together to test the safety and effectiveness of the surgery through trials with the hopes of expanding 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,” Gary M. Satou, M.D., FAHA, 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, said. “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.”