Gastroschisis

What is gastroschisis? 

Gastroschisis is a birth defect that creates an opening in the abdominal wall, allowing the intestines to protrude outside of the abdomen. The opening can vary in size and can sometimes allow other organs, such as the liver or spleen, to protrude as well. The opening is usually located just to the right of the belly button. The intestines can be damaged since they are not protected, and the blood supply to the intestines can be affected. This birth defect happens in about one in 2,523 infants born in the United States [9]. 

How is gastroschisis diagnosed? 

Gastroschisis is often detected prenatally or during pregnancy. It is typically found on ultrasound, either with or without blood tests. Rarely, gastroschisis is not detected until birth. 

What causes gastroschisis? 

Gastroschisis occurs early in pregnancy when the abdominal wall does not form correctly. The exact cause is not fully understood It occurs early in pregnancy when the abdominal wall does not form correctly, but is thought to be a combination of genetic and environmental factors. Some studies suggest that young mothers have an increased risk of gastroschisis [7]. Other studies suggest an increased risk for gastroschisis with certain medications, maternal health conditions, or other environmental factors, but these are not fully understood [2,7].

How is gastroschisis treated? 

The primary treatment for gastroschisis is surgery. Birth should be planned at a hospital or center with expertise in caring for infants with gastroschisis. This typically includes specialists in maternal-fetal medicine, pediatric surgery, and pediatric gastroenterology. 

After birth, the exposed intestines and/or other organs require special care to protect them. Most babies will have surgery shortly after birth to place the organs back into the abdomen and close the hole in the abdominal wall. In some cases, this surgical repair must be done in several steps instead of one surgery. A multi-step approach may be required for babies with larger defects or more organs protruding outside the abdomen [1,3,5]. 

What are the outcomes of gastroschisis?

Each case of gastroschisis is unique. Outcomes can vary based on the type and size of the abdominal wall defect. Babies with gastroschisis have higher risk of infection, damage to the intestines, or long-term digestive or feeding issues [3]. Some will require intravenous (IV) nutrition at some point during their care. However, most babies do very well. Babies and children with gastroschisis typically require long-term follow-up with specialists to monitor for any complications and provide ongoing support. 

References

• Al Maawali A, Skarsgard ED. (2021) The medical and surgical management of gastroschisis. Early Human Development, 162, 105459. https://doi.org/10.1016/j.earlhumdev.2021.105459
• Baldacci S, Santoro M, Mezzasalma L, Pierini A, Coi A. (2024) Medication use during pregnancy and the risk of gastroschisis: a systematic review and meta-analysis of observational studies. Orphanet Journal of Rare Diseases, 19(1), 31. https://doi.org/10.1186/s13023-023-02992-z
• Driver CP, Bruce J, Bianchi A, Doig CM, Dickson AP, Bowen J. (2000) The contemporary outcome of gastroschisis. Journal of Pediatric Surgery, 35(12), 1719–1723. https://doi.org/10.1053/jpsu.2000.19221
• Ferreira RG, Mendonça CR, Gonçalves Ramos LL, de Abreu Tacon FS, Naves do Amaral W, Ruano R. (2022). Gastroschisis: a systematic review of diagnosis, prognosis and treatment. The Journal of Maternal-Fetal & Neonatal Medicine, 35(25), 6199–6212. https://doi.org/10.1080/14767058.2021.1909563
• Ledbetter DJ. (2012) Congenital abdominal wall defects and reconstruction in pediatric surgery: gastroschisis and omphalocele. The Surgical Clinics of North America, 92(3), 713–727. https://doi.org/10.1016/j.suc.2012.03.010
• Liu S, Claude H, Yong SJ, Chen D. (2023) Association of maternal depression and hypothyroidism with infant gastroschisis: a population-based cohort study in Canada. Scientific Reports, 13(1), 7540. https://doi.org/10.1038/s41598-023-34090-2
• Rasmussen SA, Frías JL. (2008) Non-genetic risk factors for gastroschisis. American Journal of Medical Genetics: Part C, Seminars in Medical Genetics, 148C(3), 199–212. https://doi.org/10.1002/ajmg.c.30175
• Slater BJ, Pimpalwar A. (2020) Abdominal wall defects. NeoReviews, 21(6), e383–e391. https://doi.org/10.1542/neo.21-6-e383
• Stallings EB, Isenburg JL, Rutkowski RE, Kirby RS, Nembhard WN, Sandidge T, Villavicencio S, Nguyen HH, McMahon DM, Nestoridi E, Pabst LJ, National Birth Defects Prevention Network (2024) National population-based estimates for major birth defects, 2016–2020. Birth Defects Research, 116(1), e2301. https://doi.org/10.1002/bdr2.2301