Groundbreaking In-Utero Surgery Fixes Deadly Brain Condition, Prevents Heart Failure and Brain Injury, New Study Reveals

In a remarkable medical breakthrough, researchers have successfully performed an unprecedented fetal procedure to address a life-threatening vascular malformation in the brain, known as vein of Galen malformation (VOGM), thereby averting the risk of heart failure and brain injury after birth. The groundbreaking study, published in the prestigious journal Stroke, unveils the first-ever in-utero surgery that effectively treated this aggressive developmental condition.

VOGM is an exceptionally rare prenatal condition characterized by the direct connection of high-flow, high-pressure arteries from the heart to one of the main collecting veins deep within the base of the brain, instead of the capillaries necessary for proper blood flow regulation and oxygen delivery to the brain tissue. The disorder’s impact intensifies during and after the birthing process, exerting excessive strain on the newborn’s heart and lungs. This can lead to severe complications such as pulmonary hypertension, heart failure, and other life-threatening conditions. Diagnosis of VOGM typically occurs through prenatal ultrasound, with definitive confirmation achieved via MRI in the late second or third trimester of pregnancy.

As part of an ongoing clinical trial at Boston Children’s Hospital and Brigham and Women’s Hospital, conducted under the vigilant oversight of the U.S. Food and Drug Administration, the researchers performed in-utero embolization on a 34-week and 2-day gestational age fetus afflicted with VOGM. This groundbreaking intervention marks the first case in the trial and provides a glimmer of hope for expectant parents grappling with this distressing condition.

The lead author of the study, Dr. Darren B. Orbach, who is the co-director of the Cerebrovascular Surgery & Interventions Center at Boston Children’s Hospital and an associate professor of radiology at Harvard Medical School, stated that their clinical trial is currently using ultrasound-guided transuterine embolization to address vein of Galen malformation before birth.

He further added that they “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.”

After the premature rupture of the fetal membranes during the in-utero procedure, the baby was delivered via vaginal birth induction two days later. The infant’s cardiac output was progressively normalized as seen in post-birth echocardiography, and there was no need for any cardiovascular support or surgical interventions following the in-utero treatment. The baby was kept in the Neonatal Intensive Care Unit (NICU) for a few weeks due to prematurity before being discharged. During the NICU stay, the newborn underwent a normal neurological examination and showed no signs of fluid buildup, hemorrhage, or strokes 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 added. “This may markedly reduce the risk of long-term brain damage, disability or death among these infants.”

Estimates indicate that Vein of Galen malformation (VOGM), the most prevalent congenital vascular brain malformation, affects approximately one in every 60,000 births. The current standard approach to treating VOGM involves postnatal care through embolization, a procedure that employs catheters to close off the direct connections between arteries and veins in the malformation, thereby restricting excessive blood flow to the brain and heart. Nonetheless, embolization poses significant risks and does not consistently reverse heart failure. Moreover, severe brain damage may have already occurred, resulting in enduring cognitive disabilities, life-threatening complications, or even fatality for the infant.

Colin P. Derdeyn, M.D., a neurointerventional radiologist at University of Iowa Health Care who has expertise in VOGM embolizations on neonates but was not involved in the study, acknowledged the limitations of the procedure.

“The key advance here is to intervene before the physiologic events of birth can cause life-threatening heart failure. There are caveats; one successful case is not enough experience for us to conclude that the risks of this procedure are worth the benefits. Safety issues may crop up in future procedures, and this approach through the veins may not be consistently successful in preventing heart failure. The procedure described here is designed to reduce the flow through the malformation and not to cure it,” Derdeyn added.

Derdeyn further commented on the positive hemodynamic changes observed both during the fetal stage and after birth, including a reduction in flow, size of the draining vein, and the reversal of abnormal reversed flow in the aorta. He expressed enthusiasm for these remarkable and unexpected outcomes, highlighting the pioneering and responsible nature of this groundbreaking work.

Source: 10.1161/STROKEAHA.123.043421

Image Credit: