'Serious birth defect' nearly doubles in U.S.

The Centers for Disease Control and Prevention (CDC) reports that the prevalence of gastroschisis cases in the United States nearly doubled from 1995 to 2005. 

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.