Rep. Beutler's "miracle" baby: What is Potter's sequence?

Rep. Jaime Herrera Beutler with husband Daniel Beutler and daughter Abigail at Lucile Packard Children's Hospital in California on July 23, 2013.
Office of Rep. Jaime Herrera Beutler

Rep. Jaime Herrera Beutler, R-Wash. has welcomed a 2 lbs., 12 ounce "miracle" baby.

Abigail Rose Beutler was born on July 15 at Emanuel Legacy hospital in Portland. The infant suffered from a severe form of Potter's sequence as a fetus, and was not expected to live long after birth.

However, the two-week-old infant is reportedly thriving in neonatal intensive care unit at Lucile Packard Children's Hospital in San Francisco. Not only does the infant seem to be in stable condition, but she is breathing on her own -- something that doctors say has never have been seen before in a patient of her condition.

Potter's sequence or syndrome is a condition that occurs when the fetus experiences kidney dysfunction or failure while in the womb. In Abigail's case, she had developed without kidneys.

Dr. Charles Kwon, director of the Center of Pediatric Nephrology at the Cleveland Clinic, explained to that the fetus' kidneys are especially important in the second trimester of pregnancy because they maintain the balance of amniotic fluid. The protective fluid that surrounds the fetus while it is growing is mostly made up of the fetus' urine during this time, and if the fetus' kidneys cannot function, the fluid levels dip dangerously low.

There are no established rates on the condition because most of these children die in utero and may not be diagnosed with the condition before their demise, Kwon added.

Potter's sequence patients could end up having cosmetic issues due to the lack of amniotic fluid, including a flattened nose and ears and some restriction of their limbs. The most concerning part of the defect -- besides the lack of kidney function -- is that the lungs do not fully develop. Without amniotic fluid for the fetus to breathe, the lungs cannot expand and do not grow.

Beutler explained on her Facebook page that she was given two choices by her original doctors: terminate the pregnancy or do "expectant management," meaning wait for the child to die. They decided to pray and search for other options.

A perinatologist at Johns Hopkins, Dr. Jessica Bienstock, suggested that they attempt to re-fill the amniotic sac with a saline solution in order to reconfirm the diagnosis. With the added fluid, doctors were able to see the child's cosmetic defects which included a deformed chest and head. Her doctors came to the same conclusion, but asked Beutler to return after a week.

When Beutler returned, doctors were surprised to find that there was still some of the saline and amniotic fluid left and that the child's head and chest seemed to be developing more normally. Beutler asked for another injection of saline. While there were risks like infection that came with the procedure, Bienstock agreed that there might be some added benefit for the fetus and she performed the infusion.

The process was repeated until Beutler had been injected with saline five times. Then, she went into labor. Four days after trying to stall delivery, Abigail was born. Despite her medical team's worries, she surprisingly drew breath in her lungs and cried, Beutler recalled.

"This case is unprecedented," Bienstock,who is also a professor of maternal-fetal medicine in the Department of Gynecology and Obstetrics at the Johns Hopkins University School of Medicine, said in a press release. "It would be premature to say bilateral renal agenesis (failure of both kidneys to develop) should always be treated using serial amnioinfusion, but this suggests it can be part of the conversation when that is the diagnosis. 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."

Kwon, who didn't assist in Abigail's case, added that there have been some children who have Potter's sequence who have survived. These babies normally have some limited kidney function, and their situation is nowhere as dire as Abigail's. This is the first case he has heard of in which the child has survived past a few moments after birth. Other doctors concurred that this is the first time that a child who did not have both kidneys develop was able to breathe on their own, Beutler said.

"This (amniotic fluid infusion) had been attempted, but this case seems to be the most successful," Kwon said.

Because she had no kidneys, Abigail is currently receiving dialysis. The process is not impossible to do in infants, Kwon explained, but it does come with added risks because of her young age.

Kwon said the next steps are to watch Abigail's lung development and get her to a size where she can receive a kidney transplant. In order to provide her with the greatest chance for success, she will need to receive an adult kidney, which ranges in size from 10 to 12 centimeters.

For most children, this means reaching about 15 to 20 pounds in weight. This milestone is usually met around age 1, but can happen as early as nine months.

"They (the babies) need to have an abdomen big enough to accommodate a relatively large organ," Kwon explained.

Beutler wrote that they have every hope that Abigail will be able to make it to that day.

"Although Abigail will need ongoing care after she comes home, we have every expectation that she will lead a full and healthy life," she said.