Birth defect gastroschisis is on the rise

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A congenital birth defect causing an infant’s intestines to protrude through the abdominal wall is increasing in prevalence, according to USF College of Public Health researchers.

Dr. Russell Kirby, USF distinguished professor and principal investigator of the USF Birth Defects Surveillance Program, and Dr. Jason Salemi, COPH alumnus and assistant professor at Baylor College of Medicine, collaborated with researchers across the nation to examine surveillance data from 1995 to 2012 on cases of clinically confirmed gastroschisis from fourteen U.S. states.

Their report, “Increasing Prevalence of Gastroschisis – 14 States, 1995-2012,” was published in the CDC’s Morbidity and Mortality Weekly Report (MMWR) in Jan. 2016.

Prior surveillance data has shown this birth defect to be strongly associated with births among young mothers, according to the Centers for Disease Control and Prevention.

“The prevalence has continued to rise even past 2005, and the steepest increase being among younger moms,” Kirby said. “In contrast to almost every other birth defect, the prevalence of gastroschisis is rising and that raises questions as to why.”

Infant born with gastroschisis. (Photo courtesy of Centers for Disease Control and Prevention, National Center on Birth Defects and Developmental Disabilities)

Infant born with gastroschisis. (Photo courtesy of Centers for Disease Control and Prevention, National Center on Birth Defects and Developmental Disabilities)

Their findings indicate that the prevalence of gastroschisis has increased for all maternal age groups, with the largest estimated increase over the 18-year period being among non-Hispanic black mothers less than 20-years-old.

Kirby said the states included in the surveillance were selected based on their ability to reasonably report on reliable information.

“Part of the reason we have registries in many states is that you can’t get a good picture just looking at one state,” Kirby said.

Salemi said the states were spread out across the U.S. and were largely representative of the racial and ethnic diversity of the national population.

“Epidemiologically speaking, gastroschisis is a bit of an oddity when it comes to birth defects,” Salemi said. “As a woman ages, she’s typically more likely to have a child born with a birth defect, such as Down syndrome or spina bifida. Gastroschisis is different; it’s actually the youngest moms, particularly teen moms, who are at highest risk of having an infant born with this particular defect.”

Salemi said this study highlights the importance of birth defects surveillance systems and their routine monitoring and reporting of changes in the rates of gastroschisis and other serious birth defects.

Premie baby and mom

“Whenever we observe such a consistent and pronounced increase in a condition that threatens the quality and longevity of life for babies, and when we’re unable to determine the root cause of that condition, it represents an urgent call to action,” Salemi said.

Many studies have suggested possible causes for gastroschisis, according to Salemi, but more research is needed to make concrete determinations as to the etiologic causes for the rise of the defect.

“The only thing that emerges time and time again with this birth defect is that it’s always the youngest mothers who are at highest risk,” Salemi said. “It’s such an anomaly from anything else we see in birth defects, but this study demonstrates that the increasing prevalence spans multiple age and race/ethnic groups. If we are to reverse this trend and prevent babies from being affected by gastroschisis in the future, we will likely need a concerted effort to investigate the reasons that certain women are at increased risk of having a baby born with gastroschisis, and why the rate seems to be increasing almost universally.”

The researchers hope to move on to the next step of answering why this is occurring and what causes this birth defect.

“Anytime you have a health condition that is increasing in prevalence, the public has a right to know that’s happening and what we can do to reduce it,” Kirby said. “It starts with surveillance and then leads to hypotheses and research, and, hopefully recommendations that women can use in planning their future reproductive health.”


Jones AM, Isenburg J, Salemi JL, et al. Increasing Prevalence of Gastroschisis — 14 States, 1995–2012. MMWR Morb Mortal Wkly Rep 2016;65place_Holder_For_Early_Release:23–26. DOI:


Story by Anna Mayor, USF College of Public Health