Wednesday, June 4, 2003
6:24AM EDT

Defect's rise baffles doctors
UNC researchers
investigate increase of intestinal abnormality in newborns
By SARAH AVERY, Staff Writer
Suspicions arose among the baby doctors at
UNC Hospitals. They noticed they were delivering more and more
infants with a weird birth defect in which the intestines protrude
outside the baby's abdomen.
The disorder, called gastroschisis, is a congenital defect that
was supposed to be uncommon, occurring nationally in just one or two
births out of 10,000.
Dr. Matthew Laughon, a fellow in
neonatology at UNC-Chapel Hill, was intrigued. He and a group of
doctors thought maybe the teaching hospital was seeing more of the
disorder because it tended to draw high-risk pregnancies.
But as they checked birth defect records across the state, they
were shocked. The number of North Carolina babies born with
gastroschisis had more than doubled in a short period of time, from
21 in 1997 to 54 in 2000.
An analysis of data from a consortium of 600 neonatal doctors
nationwide showed that the prevalence of gastroschisis also was
rising elsewhere. Laughon and his colleagues found that the
consortium had seen a rise from 30 cases in 1997 to 149 in 2000.
"Once we started looking at the data more closely, it became
pretty obvious we had a problem," Laughon said. "We don't know what
causes the defect, number one, and we don't know why we would see an
increase."
The UNC data offers researchers a starting point to explore those
issues. If the cause of gastroschisis and its increasing prevalence
could be discovered, a cure might soon follow.
"It may be something simple along the lines of spina bifida,"
Laughon said, referring to the neural tube defect that is curable,
in 80 percent of cases, by adding folic acid to the mother's diet in
the months before pregnancy.
Laughon said he suspects some unknown environmental exposure has
triggered the increase -- perhaps a food additive, a common
chemical, a drug.
Among birth defects, gastroschisis is one that can be treated
successfully; it is fatal in only about one in 10 cases. But babies
born with the anomaly require at least one surgery to fold their
intestines back into their abdomens. In many cases, however, the
baby's belly has not grown enough to handle the bulk, so the
intestines are gradually returned over a period of several days.
Even then, the intestines don't work properly and take time to be
coaxed into action. Most babies with gastroschisis spend one to
three months in the hospital.
The Centers for Disease Control and Prevention estimated in 1992
that it cost $108,000 to treat a baby for the disorder, accounting
for $109 million in medical expenses each year in the United States.
"If we can reduce the prevalence among the population, that would
be a large amount of health-care resources that can be utilized,"
Laughon said.
For David and Mary Ollila of Chapel Hill, finding a cure for the
disorder would not only save money but also heartache. Their
daughter, Elizabeth, was born with gastroschisis four years ago.
In the early months of her pregnancy, Mary underwent a routine
ultrasound that indicated problems. She underwent a more advanced
test at UNC Hospitals to confirm gastroschisis.
"I had never heard of it before," Mary Ollila said. David Ollila,
a surgical oncologist, had learned about the disorder in medical
school, and together they pored over the literature to learn more.
The diagnosis did not change Mary's pregnancy, but it raised
concerns about the birth.
"I had to prepare for the fact that I was not going to be able to
hold my baby right away," Mary Ollila said. Premature and
underweight births are common with gastroschisis babies, and
Elizabeth was born three weeks early, although she was a healthy 6
pounds.
Doctors swaddled the newborn and took her immediately to
intensive care. About 80 percent of her small bowel was outside her
abdomen. Her belly hadn't grown enough to accommodate all that
intestine, so she had a surgery in which she was fitted with a silo
attachment. David Ollila said it looked like a triangular coffee
filter, and it guided the intestines slowly back into her belly over
the course of four days.
Instead of nursing, Elizabeth received intravenous feedings.
Gradually, as her bowels began adjusting, she was introduced to
breast milk. After 3 1/2 weeks, she was discharged from the
hospital.
"Now, she's an absolutely normal child," Mary Ollila said, noting
that the only evidence is an unusual belly button where doctors made
the incision to return her intestines.
"She's very proud of her stomach. She has two scars that make her
very special."
Staff writer Sarah Avery can be
reached at 829-4882 or savery@newsobserver.com.
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