much the doctor says it's not serious," said Heather Frazier, Johnna's mother. "It really doesn't matter what the doctor says." Heather and John Frazier learned their baby had gastroschisis after a routine ultrasound last spring. While waiting to talk to Dr. James Fischer, a pediatric surgeon at Deaconess who happens to have consulted on the design of a device used to treat gastroschisis babies, Heather Frazier and a friend looked for more information on the Internet. They found some Web pages that mentioned Dr. Fischer.
"OK, I feel a little bit better," Heather thought.
•
The Fraziers live in a condominium near Hayden Lake, Idaho. He is a construction worker and hopes to open a golf shop in Coeur d'Alene. She's a former waitress and bartender. They married May 12, 2002, in Las Vegas and John is "dad" to Heather's now-6-year-old daughter, Ryanne, who also lives with them and is a first-grader at Hayden Meadows Elementary.
At age 27, Heather is older than the typical gastroschisis mother. She'll never know for sure what caused baby Johnna's birth defect. But because she didn't realize she was pregnant for several months, she wasn't as careful as she would have been. During that time, she thinks she may have taken aspirin or decongestants. Studies have linked aspirin and certain cold medicines in early pregnancy to increased risk of gastroschisis.
"People perceive over-the-counter medications to be safe, but really they haven't been rigorously studied in pregnancy," said Martha Werler, an epidemiologist and associate professor at the Slone Epidemiology Center at Boston University. "The best advice is to avoid all medications."
Werler conducted a study, published last year in the American Journal of Epidemiology, that detected an increased risk of gastroschisis following aspirin and cold medicine use in early pregnancy. Several prior studies had noted similar links.
In Werler's study, more than 1,000 mothers were interviewed during the first six months after giving birth. About 200 of the mothers had infants with gastroschisis. Another 126 had babies with another defect called small intestinal atresia. The rest of the babies had other problems requiring hospital stays.
The women identified medications they remembered taking during the first three months of their pregnancies by looking at color pictures in a booklet. Further improving the accuracy of their reports, the women were asked to get the medicine bottle if they still had it.
The women also were asked if they recalled having a fever, upper respiratory infection or allergy early in their pregnancies.
There was no increased risk for gastroschisis among the women who remembered being sick or having allergies. But the study found a twofold increase in gastroschisis risk with aspirin use. The study also found a four-fold increase in gastroschisis risk (and a three-fold increase of small intestinal atresia risk) with using cold medicines combining pseudoephedrine and acetaminophen.
How might aspirin or other medicines get in the way of normal fetal development? Known to affect blood vessels in adults, the drugs might disrupt the formation of an important artery during the first eight weeks of pregnancy when the intestines are developing normally in the umbilical cord. Lack of blood flow, in turn, might weaken the fetus' abdominal wall as it forms around the bowel.
•
Frightened at first, Heather and John Frazier felt more confident after talking with Dr. Fischer, the Deaconess pediatric surgeon. Fischer, while working at Loma Linda University Children's Hospital in California in the early 1990s, and other pediatric surgeons advised a company called Bentec on the development of a plastic device designed to fit over the protruding bowel of gastroschisis babies after they are born.
The device worked like this: In the days after birth, a doctor would roll the plastic sleeve and clamp it, gently pushing a bit more of the intestine into the baby's abdomen each day. It was simple, like rolling up a tube of toothpaste.
The device wasn't revolutionary. Surgeons, aware that immediate surgery to tuck the bowel back into the abdomen often put too much stress on internal organs, were making their own plastic sleeves for a more gradual and gentle approach to treatment.
"Surgeons used to construct these pouches freehand," Fischer said. "Just make them at the time of the surgery taking pieces of silastic (silicone plastic sheeting) and sewing them together. It was pretty time-consuming; it took an hour to an hour and a half."
Bentec added a round, spring-loaded fitting at the base of the plastic that snugged itself under the baby's skin around the defect. Fischer and his colleagues helped refine the mechanics and suggested different sizes because the size of the birth defects vary.
•
Baby Johnna was born by C-section on a Saturday. She weighed 4 pounds, 10 ounces. Fischer wasn't available, so a pediatric surgeon from another practice fit the sleeve over the defect. Five days later, a third surgeon, Dr. Diane McCarthy, removed the device and repaired the baby's tummy.
McCarthy, eight months pregnant herself, performed the two-hour surgery in a 78-degree operating room at Deaconess. Keeping Johnna warm came first. But keeping the pregnant surgeon cool was also important. McCarthy wore a special cooling vest connected by a hose to a full ice chest.
Eight hospital staff, including two NICU nurses and an anesthesiologist, assisted. The patient, motionless from anesthesia and almost invisible under drapes, was the size of a shoebox and bathed in bright light.
The first hour of work included teasing apart the skin from the underlying tissue. Then McCarthy began to sew the fleshy pink layer together in a horizontal seam over the now-small bulge of deep red intestine. A drop of blood glistened on her glove.
Another hour of hot, intense work passed. McCarthy said she'd given up on the idea of creating a navel, which can be done with some gastroschisis babies. Johnna's defect was too large, her skin already tightly stretched over a hard, distended tummy.
"Right now we've got bigger issues than her having a nice bellybutton," McCarthy said, peering at her work through glasses equipped with magnifying lenses. The surgeon knew that increased pressure on the baby's lungs, heart and other organs would make Johnna's next few days difficult.
•
Hospital staff in neonatal intensive care units have noticed more cases in recent years. When discharge coordinator Joann Dibble started working at the Deaconess NICU six years ago, she was told: "Come see this. You'll never see another one."
It was a gastroschisis baby. Now it's typical to have at least one gastroschisis baby under care in the unit at all times.
Across the country in North Carolina, Dr. Matthew Laughon also was noticing more gastroschisis cases. Laughon, a fellow in neonatal-perinatal medicine at University of North Carolina at Chapel Hill, and his colleagues thought the rise might be due to the creation of a new university maternal and infant health center. Maybe the new center was drawing more referrals.
To find out, Laughon and other UNC researchers analyzed two large sets of data: births from North Carolina and births recorded in the database of a private company that staffs neonatal units across the country. From 1997 to 2000, the gastroschisis rate doubled in North Carolina and almost doubled in the national database.
Among North Carolina teenage mothers, the rate increased five times.
Laughon's study results were published in the June issue of the Journal of Perinatology. UNC now has received a federal grant to set up a center to monitor and prevent birth defects, including gastroschisis.
"It's a huge cost to society," Laughon said. "If there is something we could do, such as tell mothers to avoid certain medications or supplement (their diets) in some way, that would be great."
Gastroschisis is among several birth defects that are increasing in prevalence. Cleft palate and hypospadia (a defect of the penis) are also on the rise, according to the March of Dimes. Other defects are declining as scientists pinpoint their causes. For example, defects of the brain and spinal cord have dropped significantly because of public awareness of the importance of folic acid in the diet of women of childbearing age.
The March of Dimes is funding genetic research on gastroschisis, and also campaigning for better birth defect
