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, in a fetus’ brain before birth, according to new research published in 'Stroke', the journal of the American Stroke Association, a division of the American Heart Association.
Vein of Galen malformation (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 embolisation 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 US Food and Drug Administration.
“In our ongoing clinical trial, we are using ultrasound-guided transuterine embolisation 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 embolisation, the infant was delivered by induction of vaginal birth two days later. Echocardiography after birth showed progressive normalisation of cardiac output. In this case, the newborn did not require any cardiovascular support or surgery following the 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 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.”