Research Reports Successful Fetal Surgery to Fix a Potentially Deadly Vascular Malformation in the Brain

Tuesday - May 9 2023, 06:52 UTC - 1 year ago

Researchers have successfully performed a first-of-its-kind in-utero fetal surgery to repair an aggressive, rare vascular malformation, called vein of Galen malformation, in a fetus, which is expected to reduce heart failure and brain injury after birth.

Researchers report on the first-of-its-kind fetal procedure to fix a potentially deadly vascular malformation in the brain, avoiding heart failure and brain injury after birth, published in the journal Stroke.

For the first time, researchers performed a successful in-utero surgery to repair a potentially deadly developmental condition by treating an aggressive vascular malformation, called vein of Galen malformation (VOGM), in a fetus’s brain before birth, according to new research published on May 4 in Stroke, the peer-reviewed flagship journal of the American Stroke Association, a division of the American Heart Association.

VOGM is a rare prenatal condition in which arteries bringing high-flow, high-pressure blood to the brain from the heart connect directly with one of the main collecting veins deep at the base of the brain, rather than to capillaries that are necessary to slow blood flow and deliver oxygen to surrounding brain tissue. Due to changes in the infant’s vascular physiology during and after the birth process, the high flow in the malformation has an even more serious effect on the heart and brain after birth, putting enormous pressure on the newborn’s heart and lungs. This may lead to pulmonary hypertension, heart failure, or other potentially life-threatening conditions. VOGM is most often first seen on a prenatal ultrasound and is definitively diagnosed by MRI during the late second or third trimester of pregnancy.

The researchers performed the in-utero embolization on a fetus with VOGM at 34 weeks and 2 days gestational age, as the first treated patient in a clinical trial that is underway at Boston Children’s Hospital and Brigham and Women’s Hospital, performed with oversight from the U.S. Food and Drug Administration. "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. 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," said 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.

Due to premature rupture of membranes during the in-utero embolization, the infant was delivered by induction of vaginal birth two days later. Echocardiography after birth showed progressive normalization of cardiac output. In this case, the newborn did not require any cardiovascular support or surgery following the in-utero treatment and was watched in the NICU for several weeks after birth because of prematurity before being sent home. During that time, the newborn had a normal neurological exam and showed no strokes, fluid buildup or hemorrhage on brain MRI.

"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 heart and brain before birth instead of waiting for potential surgery and intensive care after birth," said Orbach.