The CDC says more public health research is urgently needed to find out why the dramatic increase in what the CDC describes as a "serious birth defect of the abdominal wall."

Patrick Thomas, M.D., FACS, a pediatric surgeon at Cook Children’s says gastroschisis results from a defect in the abdominal wall with herniation of the abdominal contents (such as intestines, stomach and often the gonads). The hernia is always to the right of the bellybutton.

Treatment includes starting immediate IV fluids and placing the infant in an organ bag below the chest to prevent heat loss and to protect the bowel. Surgical options can include immediate repair by placing the organs back in the abdomen and closing the abdominal wall defect. For cases not responsive to immediate closure, a protective bandage (called a silo) is placed and the bowel gradually reduced until closure of the defect can be performed about a week later.

Dr. Thomas said ongoing studies are needed to identify the causes of gastroschisis, but the current treatment through surgery has produced “great outcomes.”

Candace Gamble, M.D., a medical geneticist at Cook Children’s, calls the report from the CDC on the increasing prevalence of gastroschisis, significant.

“It is particularly important for health care providers in the prenatal and neonatal setting as we care for these babies,” Dr. Gamble said. “While expecting parents have cause for concern, the occurrence is still relatively rare considering there are well over 3 million babies born in the U.S. each year. However, it’s a reminder that every pregnancy has a 3-5 percent risk of some type of congenital birth defect. Thus good prenatal care is essential in detecting these defects early so that these babies can receive the proper management.”

Both Dr. Thomas and Dr. Gamble state that researchers and clinicians do not fully understand why this is happening. There is no known genetic mutation that causes gastroschisis. It is likely due to a number of genetic and environmental factors, which lead to an error in fetal development. Doctors do know that there are certain factors that increase the risk for having a baby with gastroschisis, including being a pregnant mother under the age of 20, smoking, and taking vasoconstrictive medications.

“Prenatal care is very important,” Dr. Gamble said. “A screening test where we measure the maternal serum alpha fetoprotein around 16 weeks gestation can be used to detect some babies with gastroschisis, other abdominal wall defects, and more specific defects. In addition, the anatomy ultrasound at 20 weeks gestation can also be useful to detect this and other congenital abnormalities. However, neither measure can completely rule out all birth defects. It is important for parents to discuss these risk and screening options with their health care provider.”

*Illustration courtesy of CDC.

Six days after her high school graduation, Harkey found out she was pregnant. During her pregnancy she faced several complications due to the fact that her son’s intestines were located outside his belly, a condition known as gastroschisis.

Once Aiden Wayne Harkey-Ellis entered the world, Harkey got to hold her son. But only briefly before he was rushed to Cook Children’s Medical Center where Chip Uffman, M.D., performed surgery on Aiden.

Healthy babies are born with about 200 centimeters of the small intestine. Aiden now has 20 centimeters and only one-third of his colon. He has severe short bowel syndrome (SBS) and will always have trouble gaining weight and absorbing nutrients.

He has had 26 surgeries since birth, including  two transverse enteroplasty procedures to lenghten his bowels and exploratory bowel surgery, a G-button where he receives feeding through a tube and several line placements.

“He is now home safe and sound, however we have been in and out of the very place that saved his life, Cook Children’s, and will be here for years to come,” Harkey said. “I was recently reminded, even if it seems like we’re not progressing, every breath is a miracle and progress.”

Short bowel syndrome occurs any time enough intestine is lost to cause poor absorption of nutrients. There are many causes of SBS. The most common cause in children is necrotizing enterocolitis, a rare complication of prematurity or other serious illness in the newborn period. Other causes include congenital intestinal anomalies (such as gastroschisis, malrotation or intestinal atresias), surgical resection for Crohn disease, trauma, malignancy, radiation, or vascular insufficiency, to name a few.

“SBS is a problem because affected individuals may not be able to absorb enough nutrition and water to grow and thrive,” said Danny Rafati, M.D., Ph.D., a gastroenterologist at Cook Children’s. “Also, because certain parts of the gastrointestinal tract perform unique roles, even losing relatively short segments can lead to a problem absorbing important nutrients.”

Individuals with SBS may need special formulas or even intravenous supplementation (often called TPN) to ensure they have enough nutrition and fluid to stay healthy and thrive. Due to these special needs some children require feeding tubes or long-term central venous lines.

And this is where Harkey becomes upset. She’s seen in the news lately where celebrities have been using the same IV nutrition that children with conditions like SBS need to survive for preventing hangovers or jet lag.

Beth Deen, a pharmacist at Cook Children’s, says that most of the components of the parenteral nutrition solutions have been on back order at some time in the past few years. One of most problematic has included intravenous calcium that premature neonates and cardiac infants cannot live without.

The reasons for shortages include a shutdown of a manufacturing plant due to contamination, which has stopped the production of important products.

When this happens, it creates shortages of needed medication.

Deen said the government and agencies such as the Food and Drug Administration have been involved in the past five years to help solve this problem, but it remains a day-to-day struggle.

“Judicious use of medications includes reserving it for those who truly need it,” Deen said. “We give these medications and vitamins we place in IVs to provide these kids with the nutrition that sustain them. To use them for any reason other than to help the patients in need  are a waste of the materials needed to save lives.”

T.J. Oshie, a hockey star, became a national hero after helping Team USA beat Russia in a dramatic shootout. But now the St. Louis Blues player is in the headlines for a different reason, after his fiancé, Lauren Cosgrove, gave birth to a little girl. Their daughter was born with gastroschisis, a condition where the baby is born with the intestines on the outside of the body.

We asked James P. Miller, M.D., a pediatric surgeon for Cook Children’s, to give us some answers about gastroschisis.

Cook Children’s: What causes gastroschisis?
Dr. Miller: No one is really sure what causes it. We think it happens while the baby is developing and the abdominal wall is being formed.  It’s an abdominal wall defect where the intestines protrude through the abdominal wall. Interestingly enough it’s almost always on the right side. In the most basic terms, it’s like having a ruptured umbilical, or belly button, hernia.

Cook Children’s: How rare is gastroschisis?
Dr. Miller: It’s about 1 in every 3,000 births. Sixty percent of babies with gastroschisis are born premature and to mothers of young age. At Cook Children’s, we probably see about 30 or so per year.

Cook Children’s: What are the main concerns for babies with gastroschisis?
Dr. Miller: Getting the bowel back in the baby. Often times, this needs to done in stages over a period of days.  Another concern is that the gastrointestinal tract is slow to function. About 10 percent of babies will have an area of narrowing and some with a segment of bowel missing. When this occurs the recovery is more prolonged. Babies will need to be fed through their veins while the GI tract recovers. 

Cook Children’s: What is the prognosis?
Dr. Miller: Overall, quite good. Usually, babies are here at the Cook Children’s NICU for anywhere between four to eight weeks after delivery and the defect is usually isolated.

Photo of T.J.Oshie courtesy of: Mark Buckner/St. Louis Blues