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40 years!
Last updated:
7/18/2023
Years published: 1992, 1994, 2003, 2007, 2019, 2023
NORD gratefully acknowledges Mariebelle Elkhoury, NORD Editorial Intern from the Massachusetts College of Pharmacy and Health Sciences, and Marcia L. Feldkamp, PA, MSPH, PhD, Department of Pediatrics, Division of Medical Genetics, University of Utah School of Medicine, for assistance in the preparation of this report.
Summary
Gastroschisis is a rare defect apparent at birth in which the intestines prolapse through the right side of the umbilical ring with an intact umbilical cord on the left side. Based on human evidence, gastroschisis likely occurs because of an amnio-ectodermal separation at the pars flaccida (i.e., thinner right side of the rudimentary umbilical ring) or an amniotic rupture. These findings suggest that gastroschisis is more likely a disruption rather than a structural malformation. Gastroschisis can be detected by a routine prenatal ultrasound during a mother’s pregnancy, usually around 18-20 weeks gestation. While the cause(s) is(are) unknown, gastroschisis may result from multiple maternal genes interacting with environmental factors. Treatment is a surgery that slowly returns the intestines to the abdomen (silo repair).
Introduction
The name gastroschisis is derived from two words. Gastro meaning related to the stomach. Schisis, is a Greek term, meaning separation. Translating gastroschisis would suggest the separation of the stomach, but in reality, it is not the stomach that separates but likely the amnio-ectodermal connection or an amniotic rupture at the right edge of the umbilical ring.
Gastroschisis is apparent at birth and can also be detected prenatally with ultrasound. Infants with this disorder have a 2-5 cm opening at the umbilical ring in which prolapsed abdominal organs appear on the outer surface of the abdomen. The abdominal cavity is smaller than normal, and the prolapsed intestines and other organs have no membranous sac covering it. This opening is typically found to the right, adjacent to the umbilical cord attached on the left side. The stomach, small intestine and large intestine are the most common organs that extend outside the abdomen. If the liver is also prolapsed, this should not be considered a gastroschisis.
The intestines may look swollen, inflamed, thickened, short and covered with a thick fibrous peel due to exposure to the liquid that surrounds the fetus during pregnancy (amniotic fluid). Twisting (malrotation) of the bowel is always present and the exposed bowel is at risk for obstruction leading to deterioration of the intestines and interruption of the blood supply due to the small size of the defect.
Bowel function is delayed in most infants due to malabsorption and deficient movement (hypomotility). Absence or closure (atresia) of intestines and other gastrointestinal tract abnormalities occur in as many as 10% of infants with gastroschisis.
Other medically related issues with this disorder may be infection, dehydration and dangerously low body temperature (hypothermia).
Some children with gastroschisis may have other health problems such as shorter intestines, slow growth before birth, prematurity or heart abnormalities.
The exact mechanism of gastroschisis is not known; however, several theories have been suggested.
Most recently, it has been proposed that gastroschisis is a midline defect of the primordial umbilical ring based on findings in human fetuses and newborns. As early as 35 days post conception after merging of the two body stalks (body stalk and the omphalomesenteric/yolk stalk), the amnio-ectodermal junction is either not intact on the right side, or it later separates, or the amnion ruptures permitting the bowel and other organs to prolapse. This hypothesis is based on detailed clinical evaluation of human fetuses and infants in addition to our current understanding of the evolution of amniotes and developmental biology.
Several families have been reported in which gastroschisis has occurred in siblings or distantly related children within multigenerational families. Different studies suggest that gastroschisis may follow an autosomal recessive or dominant inheritance pattern in a small number of families.
Recessive genetic disorders occur when an individual inherits a mutated gene from each parent. If an individual receives one normal gene and one mutated gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the mutated gene and have an affected child is 25% with each pregnancy. The risk of having a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents is 25%. The risk is the same for males and females.
Dominant genetic disorders occur when only a single copy of a mutated gene is necessary to cause the disease. The mutated gene can be inherited from either parent or can be the result of a changed gene in the affected individual. The risk of passing the mutated gene from an affected parent to a child is 50% for each pregnancy. The risk is the same for males and females.
Chromosomal or genetic abnormalities have not been consistently reported as a cause of gastroschisis. Approximately 85% of babies born with gastroschisis do not have any other unrelated birth defects. The two most consistent risk factors for gastroschisis are maternal age (highest risk in the youngest population of women, less than 20 years of age) and maternal exposure to cigarette smoke. In addition, ten studies have reported that maternal genitourinary tract (urinary tract infection and/or sexually transmitted infections) infections increase the risk for gastroschisis.
Changes (pathogenic variants or mutations) in several genes (ICAM1, NOS3, and NPPA) have been associated with an increased risk for gastroschisis. These results are considered preliminary, and more research is needed to determine if these variants can cause gastroschisis.
As of 2023, this condition is estimated to affect about 2 to 5 per 10,000 newborns. The Centers for Disease Control and Prevention (CDC) estimates that there are about 1,953 babies born with gastroschisis in the United States each year.
Gastroschisis can be diagnosed by prenatal ultrasound or after birth. It is differentiated from omphalocele by the presence of freely floating abdominal organs in the amniotic cavity without a membranous covering. The organs appear on the outer surface of the abdomen, and at delivery, the diagnosis is confirmed.
Treatment
Females with pregnancies in which gastroschisis has been prenatally diagnosed should be delivered at a tertiary care center where neonatal and pediatric surgical care is available.
Surgery is needed to close the abdominal defect and slowly return the intestines to the abdomen (silo repair). After the organs have all been put back in the belly, the opening is closed. Prior to and after surgery, infants are fed through an IV line and are slowly introduced to normal feeding (total parenteral nutritional feedings). This allows the infant to receive adequate nutrition since it takes time for their bowel function to normalize.
Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.
For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:
Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: prpl@cc.nih.gov
Some current clinical trials also are posted on the following page on the NORD website:
https://rarediseases.org/for-patients-and-families/information-resources/info-clinical-trials-and-research-studies/
Some current clinical trials also are posted on the following page on the NORD website:
https://rarediseases.org/for-patients-and-families/information-resources/info-clinical-trials-and-research-studies/
For information about clinical trials sponsored by private sources, contact:
www.centerwatch.com
For information about clinical trials conducted in Europe, contact:
https://www.clinicaltrialsregister.eu/
TEXTBOOKS
Bope, Edward T., Kellerman, Rick D. Conn’s current therapy 2017. Philadelphia: Elsevier. 2017.
JOURNAL ARTICLES
Feldkamp ML, Carey JC. The pathogenesis of gastroschisis. Birth Defects Research; in press).
Opitz JM, Feldkamp ML, Botto LD. An evolutionary and developmental biology approach to gastroschisis. Birth Defects Res. 2019;111(6):294-311. doi:10.1002/bdr2.1481
Feldkamp ML, Botto LD, Byrne JLB, Krikov S, Carey JC. Clinical presentation and survival in a population-based cohort of infants with gastroschisis in Utah, 1997-2011. Am J Med Genet A. 2016;170A(2):306-315. doi:10.1002/ajmg.a.37437
Bargy F, Beaudoin S. Comprehensive developmental mechanisms in gastroschisis. Fetal Diagn Ther. 2014;36(3):223-230. doi:10.1159/000360080
Prefumo F, Izzi C. Fetal abdominal wall defects. Best Pract Res Clin Obstet Gynaecol. 2014;28(3):391-402. doi:10.1016/j.bpobgyn.2013.10.003
Rittler M, Vauthay L, Mazzitelli N. Gastroschisis is a defect of the umbilical ring: evidence from morphological evaluation of stillborn fetuses. Birth Defects Res A Clin Mol Teratol. 2013;97(4):198-209. doi:10.1002/bdra.23130
Mastroiacovo P, Lisi A, Castilla EE, et al. Gastroschisis and associated defects: an international study. Am J Med Genet A. 2007;143A(7):660-671. doi:10.1002/ajmg.a.31607
Torfs CP, Christianson RE, Iovannisci DM, Shaw GM, Lammer EJ. Selected gene polymorphisms and their interaction with maternal smoking, as risk factors for gastroschisis. Birth Defects Res A Clin Mol Teratol. 2006;76(10):723-730. doi:10.1002/bdra.20310
Shaw A. The myth of gastroschisis. J Pediatr Surg. 1975;10(2):235-244. doi:10.1016/0022-3468(75)90285-7
Fear W. Congenital extrusion of abdominal viscera: return: recovery. British Medical Journal. 1878;2: 518.
INTERNET
Facts about Gastroschisis. Division of Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention. June 28, 2023. https://www.cdc.gov/ncbddd/birthdefects/gastroschisis.html#:~:text=Gastroschisis%20is%20a%20birth%20defect,the%20baby’s%20body%20as%20well. Accessed July 18, 2023.
Gastroschisis. Genetic and Rare Diseases Information Center. Last updated: Feb 2023. https://rarediseases.info.nih.gov/diseases/8661/gastroschisis Accessed July 18, 2023.
Abdominal wall defect. Genetics Home Reference. Reviewed: August 2016. https://ghr.nlm.nih.gov/condition/abdominal-wall-defect Accessed July 18, 2023.
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