A baby girl with a deadly genetic disorder was treated in the womb as a world first.
Little Denver Coleman, now two months old, of Baton Rogue, Louisiana, is “thriving” and showing no signs of illness after the 20-minute surgery, according to her family.
Her mother Kenyatta Coleman, 36, said it was “the most beautiful moment holding her, looking up at her and then hearing her cry” – after the child received a devastating diagnosis while still in the womb.
Ms Coleman was just weeks away from giving birth to her fourth child when she was told the unborn fetus was suffering vein of Galen malformation. The condition occurs when the blood vessel that carries blood from the brain to the heart doesn’t develop properly, putting the body under overwhelming stress.
If young Denver was born with the condition, she had a 50 percent chance of experiencing immediate symptoms and a 40 percent chance of dying before adolescence. But a landmark study at Boston Children’s Hospital offered a lifeline.
Denver Coleman (pictured) has been found to have a condition affecting one in 60,000 people called Vene of Galar malformation, a rare condition that causes an artery in the brain to drain directly into veins, leading to dangerously high blood pressure
Kenyatta Coleman (right) and her husband Derek (left) found out their child had the potentially devastating disease when they were 30 weeks pregnant. They had surgery when they were 34 weeks old
During in utero surgery, doctors enter the mother’s uterus and operate on the unborn child. In the procedure, performed in Boston, scientists used an ultrasound to find nerves that would be affected by a rare birth defect in 60,000, the vein of Galen malformation. Children born with this condition have a 30 percent chance of dying by age 11. In this case, the operation was successful and the child was born days later with no heart or brain problems
It was successful and Denver was born healthy two days later. Mr Coleman describes her daughter as a “fighter” and says she is doing well at the moment.
“She showed us from the start that she’s a fighter,” Ms. Coleman told CNN. “She was demonstrating… ‘Hey, I want to be here.’
The surgery was performed in March but documented in a case study published Wednesday in the American Heart Association’s journal Stroke.
“This approach has the potential to mark a paradigm shift in the treatment of Galen vein malformations,” said Dr. Darren Orbach, surgeon at Boston Children’s Hospital.
‘We [repaired] treating the deformity before birth and eliminating heart failure before it occurs, rather than trying to reverse it after birth.
“This can significantly reduce the risk of long-term brain damage, disability, or death in these infants.”
A team of 10 doctors used a needle to puncture the woman’s lower abdomen. Then they cut into the wall of her uterus using ultrasound to locate the right spot.
The surgeons then cut into the unborn child’s brain and performed an operation to implant a coil near the artery that would restrict blood flow.
Ms Coleman says she and her husband Derek, 39, did not experience any pregnancy complications until the first 30 weeks of pregnancy.
Denver (pictured) was healthy at birth and is still doing well two months later. The doctors are enthusiastic about the surgical potential
Pictured: Denver with her three older siblings.
“Baby was fine. The anatomy scan came back normal. All of her biophysical profiles were unremarkable,” Ms. Coleman said.
“We honestly thought we were in the clear.”
However, an ultrasound after 30 weeks made a shock discovery. The child had malformations of the arteries and veins in his brain.
Her doctors sat down with Ms. Coleman and “she informed me that something was wrong with the baby’s brain and her heart was also enlarged.”
The child suffered from the disease in which blood drains rapidly from an artery in the brain into the veins without passing through capillaries.
As a result, the child suffers dangerously high blood pressure, putting them at risk of heart disease and failure of other vital organs.
The doctors then presented the woman with the prospective operation. A challenging but quick procedure that could save the child from serious complications later.
For the surgery, the baby had to be rotated in the uterus to get into a position where the procedure could be performed.
“So after learning she was in the ideal position, which was a validation for me [that I was doing the surgery]… there’s no going back,” Ms. Coleman said.
Although the operation, performed 34 weeks and two days into the pregnancy, was a success, the mother still feared for her baby’s future.
“Will she be able to show continuous progress after that? Will she just need extra support after I have her? Will she still have heart failure immediately?’ She asked.
Two days later, on March 17, Mrs. Coleman Denver gave birth to Coleman, who weighed 4.2 pounds.
“I heard her cry for the first time and that’s just, I — I can’t even put into words how I felt at that moment,” she said.
“It was just the most beautiful moment, holding her, looking up at her and then hearing her cry.”
Days later, the baby’s father met his new daughter in the NICU.
“I gave her a kiss and she just made little baby noises and stuff,” he said.
“That was all I needed.”
Now, two months later, Denver Coleman is happy and healthy. Scans have now found problems in her circulatory system.
Researchers are working with the Food and Drug Administration (FDA) to conduct studies into the safety and effectiveness of this surgery in hopes of expanding its use.
“The fetal intervention team at Boston Children’s Hospital and Brigham and Women’s Hospital have successfully developed another in utero procedure that could be very effective,” said Dr. Gary Satou, a cardiologist at the University of California, Los Angeles, who was not involved in the research.
dr Orbach continued, “We were thrilled to see that the aggressive decline that is usually seen after birth just didn’t happen.”
“We are pleased to report that at six weeks the infant is doing remarkably well, is off medication, eating normally, gaining weight and is home.
“There is no evidence of negative effects on the brain.”
The condition occurs when the circulatory system does not form properly during the first trimester of pregnancy.
dr Darren Orbach (pictured), a surgeon at Boston Children’s Hospital, said: “This approach has the potential to mark a paradigm shift in the treatment of Galen vein malformations.”
The anterior choroidal artery in the center of the brain directs blood into capillaries—small blood vessels that connect blocks to veins.
They act almost as speed bumps, controlling how fast blood moves from the arteries into the body’s intricate network of veins.
However, this system could be disrupted if the veins and capillaries do not develop properly in the womb.
In children suffering from a Galen vein malformation, the blood flows directly into the veins, skipping the capillaries.
This causes the artery to drain blood into the circulatory system too quickly. A person’s blood pressure, in turn, rises sharply as the increase in blood flow puts more pressure on the rest of the circulatory system.
Over time, this can restrict blood flow to the heart, lungs, and other vital organs, potentially leading to failure.
Elevated high blood pressure also dramatically increases the likelihood of developing heart disease.
A 2019 study by French researchers found that 36 percent of children with the disease had died by the age of 11.
Current treatment for the malformation includes a cerebral embolism, which uses fat to restrict blood flow and act like the capillaries.
However, surgeons believe they can take action before the child is born to prevent it from suffering complications while it is still alive.
This surgery is the first in a clinical trial being conducted to assess whether this surgery is an appropriate treatment for the condition. Doctors have received FDA approval for their work.
“As always, some of these fetal cases need to be performed and followed up to establish a clear pattern of improvement in both neurological and cardiovascular outcomes,” said Dr. satou
“Therefore, the national clinical trial will be crucial to generate adequate data and hopefully successful outcomes.”
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