U.S. Rep. Jaime Herrera Beutler was on to her third set of doctors when she visited the Johns Hopkins Hospital, having been told the fetus she was carrying was developing without kidneys and would be unable to breathe on its own after birth.
But in Baltimore, her doctors stumbled into what is considered an unproven treatment for a condition known as Potter's Sequence, the diagnosis her fetus was given, involving low levels of amniotic fluid. Herrera Beutler underwent a series of injections of saline solution into her uterus at Hopkins to raise the fluid levels, key for normal fetal development.
When the Republican congresswoman from Washington state delivered last month, three months early, the baby defied doctors' earlier predictions and was able to breathe unassisted — a first, the doctors believe, for babies diagnosed with Potter's Sequence in utero. They suspect the rare treatment Herrera Beutler received at Hopkins could have played a role, though they emphasized that it doesn't mean it will be universally effective.
It has, however, given Herrera Beutler's daughter, named Abigail Rose, a chance at life she was not expected to have. Abigail will remain on dialysis until a kidney transplant is possible in about a year, but her lungs are as developed as much as would be expected for a preemie, which is the remarkable aspect of her case, doctors said.
"This case is unprecedented," Dr. Jessica Bienstock, a professor of maternal-fetal medicine at Hopkins who performed the saline injections, known as amnioinfusion, said in a statement. "Hopefully, science will evolve to the point where we will be able to save babies with this defect. But so far, this is just one isolated case whose ultimate outcome is still unknown."
Bienstock declined to be interviewed.
Abigail developed in utero with what is known as bilateral renal agenesis — in layman's terms, she lacked kidneys, or any kidney tissue whatsoever. While that is clearly a life-threatening condition, it was actually not the top concern in her prenatal development.
The top concern was the possibility of Abigail's being born with underdeveloped lungs, a likely consequence of her lack of kidneys.
Missing kidneys means an inability to process waste, and fetal urine is a key component to amniotic fluid. Amniotic fluid, in turn, is key in fetal development, particularly of the lungs. Potter's Sequence, formerly known as Potter's Syndrome, is caused by a lack of amniotic fluid and marked by deformed development. It's not just caused by bilateral renal agenesis, but is typically marked by underdeveloped lungs and other characteristics.
When Herrera Beutler visited Hopkins, Bienstock injected Herrera Beutler's uterus with a saline solution so she could confirm the diagnosis by ultrasound. When the congresswoman returned for a follow-up visit a week later, Bienstock found that some of the fluid remained and that Abigail's head and chest appeared to be developing more normally.
Herrera Beutler asked for another infusion of saline and came back several more times over the following several weeks. Soon after a fifth amnioinfusion, Herrera Beutler went into labor while back in Washington state. Abigail was born July 15, weighing 2 pounds, 12 ounces. Herrera Beutler and her husband, Daniel, declined to be interviewed.
While the child was born three months early, she was otherwise normally functioning, doctors said. Her feet, which had appeared clubbed in early ultrasound images, had straightened, and her lungs appeared normally developed. But they can't say for certain why that was.
Was it the amnioinfusion treatment? That she was born prematurely, while the effects of the amnioinfusion were still fresh?
"We don't know right now what it is that has made her case so unique," said Dr. Louis Halamek, a neonatologist at the Lucile Packard Children's Hospital at Stanford in Palo Alto, Calif., where Abigail was whisked hours after her birth in Portland, Ore. More study of the amnioinfusion treatment is needed, Halamek said.
Potter's Sequence affects one in about 5,000 fetuses, caused by various forms of kidney disease and failure. Bilateral renal agenesis, meanwhile, is estimated to occur in one out of every 10,000 births. In many cases, the pregnancies are terminated, while others are stillborn and some die soon after birth — because they can't breathe, not because of kidney failure.
The disorder was originally termed a syndrome, discovered by pediatric pathologist Edith Potter in 1946, but it was later changed to sequence when it became apparent that there are various circumstances that can lead to low amniotic fluid levels and thus birth defects.
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Going forward, Abigail's treatment is "not exactly routine care," said Dr. Steven Alexander, a pediatric nephrologist at Stanford. She is expected to spend several months in the hospital, in incubators like any premature baby, and also undergoing dialysis. Eventually, she will be sent home, where her parents will be able to perform her dialysis.
Once she reaches 12-14 months of age, Abigail is expected to be able to receive an adult kidney, about the size of a fist. That could last her 15-20 years, by which time some sort of artificial kidney could exist to replace it, Alexander said.
In the meantime, doctors said they hope the surprising case can lead to better understanding of how to treat Potter's Sequence — at least suggesting "it can be part of the conversation when that is the diagnosis," Bienstock said in a statement.