Gastroschisis is the herniation of the intestines through an opening in the abdominal wall. It is a congenital defect that can be detected prenatally using imaging technologies, mainly ultrasonography. In most cases, the surgical intervention is performed on the first day after birth. In complicated cases, the repair is done in stages using a pouch (a silo) to contain extruded bowels, and wall closure is achieved over one or two weeks.
Presentation
There are several types of congenital abdominal wall defects that result in the extrusion of bowels and other organs, with gastroschisis being the most frequent. Gastroschisis and omphalocele are both examples of an abnormal opening in the abdominal wall that results in the bowels protruding out of the abdomen into the amniotic sac, but they are different, well-defined conditions. Omphalocele is associated with chromosomal aberrations and malformations in several other organs; in this condition, a membrane surrounds the externalized intestines. Gastroschisis does not tend to be associated with chromosomal abnormalities or problems with other organs, and there is no membranous covering on the extruded bowels.
Gastroschisis is a relatively common congenital defect affecting about 1 in 2000 births [1]. There has been a recent increase in its prevalence. The opening in the abdominal wall is mainly to the right of the umbilical cord. The herniated organ is most often the small bowel, which is not rotated. The bowels are exposed to the amniotic fluid, which may lead to a decrease in its functional capacity. Exposure to the amniotic fluid also results in increased levels of maternal alpha-fetoprotein, the detection of which may lead to the discovery of gastroschisis. Other clues for gastroschisis are fetal growth retardation and polyhydramnios [2]. Gastroschisis may also be discovered by chance during a second-trimester sonography. Fetal abdominal circumference is low in gastroschisis, making the assessment of the age of the fetus difficult [2]. Very low abdominal circumference and an abnormal gastric bubble are among the indicators for increased perinatal death or serious bowel injuries such as necrotizing enterocolitis [3]. In one study, babies with gastroschisis delivered between 35 and 37 gestational weeks were found to have the fewest perinatal complications [4].
Entire Body System
- Hypothermia
There was no association between hypothermia and ICs. [ncbi.nlm.nih.gov]
Hypothermia: After birth, it is easy for the baby to lose heat due to the intestines being exposed. Maintaining a normal body temperature is essential. [babygaga.com]
Hypothermia is a major risk due to the exposed gut and significant fluid losses [55]. Premature babies are particularly prone to hypothermia because of their high ratio of skin surface to weight and a lower amount of subcutaneous and brown fat. [intechopen.com]
A baby born with gastroschisis will lose heat and water very quickly from the intestines, causing: too much water loss (dehydration) a body temperature that gets too low (hypothermia) Other organs may stick out along with the intestines, including the [kidshealth.org]
Other medically related issues with this disorder may be infection, dehydration, and dangerously low body temperature (hypothermia). [rarediseases.org]
- Developmental Delay
Some children will have feeding or speech problems as a result of delayed feedings or the tubes inserted in their mouths. Some children will have problems with muscle tone and developmental delays from restricted mobility while in the hospital 47. [averysangels.org]
"Developmental risks and protective factors for influencing cognitive outcome at 5 1/2 years of age in very-low-birthweight children". Developmental Medicine and Child Neurology. 44 (8): 508–16. doi:10.1017/S001216220100247X. [en.wikipedia.org]
- Trisomy 21
Chromosomal abnormalities are observed in 40% of infants with omphalocele, including trisomy 18, trisomy 13, trisomy 21, Turner syndrome, Klinefelter syndrome, and triploidy. [cancertherapyadvisor.com]
The three most common chromosomal anomalies were trisomy 21- 225, trisomy 18- 31, and trisomy 13- 16 cases. All remaining patients with major anomalies were included in the final group of "any other major anomaly". [bmcpediatr.biomedcentral.com]
Gastrointestinal
- Vomiting
After returning home, call your health care provider if your baby develops any of these symptoms: Decreased bowel movements Feeding problems Fever Green or yellowish green vomit Swollen belly area Vomiting (different than normal baby spit-up) Worrisome [nlm.nih.gov]
After returning home, contact your health care provider if your baby develops any of these symptoms: Decreased bowel movements Feeding problems Fever Green or yellowish green vomit Swollen belly area Vomiting (different than normal baby spit-up) Worrisome [medlineplus.gov]
After returning home, call your provider if your baby develops any of these symptoms: Decreased bowel movements Feeding problems Fever Green or yellowish green vomit Swollen belly area Vomiting (different than normal baby spit-up) Worrisome behavioral [keckmedicine.adam.com]
A tube is used to drain away bile from the stomach and reduce the risk of vomiting during surgery. [news-medical.net]
For any other child, vomiting and fever would normally mean a bug, for our children it could mean intussusception, volvulus, or obstruction. Things most doctors rarely see. Simply put, gastroschisis means there are no road maps. [nicuawareness.org]
- Abdominal Distension
We report here on a newborn infant who initially presented with a history of gastroschisis, abdominal distension, and jaundice. Further studies revealed that the child had findings consistent with extrahepatic biliary atresia (EHBA). [ncbi.nlm.nih.gov]
Neurodevelopment was not delayed. [ 25 ] One study found that the readmission rate of gastroschisis patients after initial discharge was 40%. 65% of readmissions occurred in the first year, the main indications being abdominal distension/pain and bowel [patient.info]
†Defined as ‘suspected enterocolitis with at least one of bilious aspirates or emesis, abdominal distension or occult or gross blood in stool (no fissure), and at least one of pneumatosis intestinalis, hepatobiliary gas, pneumoperitoneum’. [fn.bmj.com]
Feeding is initiated upon return of bowel function (resolution of abdominal distension and bilious gastric drainage). The time to initiation of feeds can range from one to two weeks, or longer, depending on the condition of the bowel. [mdpi.com]
- Failure to Thrive
The mortality rate for gastroschisis is reported to approach 10%. 1, 2 Despite surgical correction, morbidities, include feeding intolerance, failure to thrive, and prolonged duration of hospitalization in nearly all infants with this anomaly. 3 Several [nature.com]
Stoma formation is fraught with high-output stoma complications such as failure to thrive and peri-stoma skin breakdown—therefore is not the surgery of choice in low-resource settings. [intechopen.com]
- Nausea
Zofran, also known as ondansetron, is an anti-nausea medication approved for cancer patients and people undergoing surgery who experience the side effects of nausea and vomiting. [zofranlawsuitguide.com]
- Intestinal Disease
Increased calprotectin levels have been detected in intestinal diseases associated with inflammation such as necrotizing enterocolitis, and its quantitation provides a measure of the degree of tissue inflammation in adults with irritable bowel disease [nature.com]
Cardiovascular
- Hypertension
Clinical variables, diagnosis of respiratory failure (pulmonary hypertension (PHN), congenital heart defects (CHD), congenital diaphragmatic hernia (CDH), and sepsis), and outcomes were recorded. [ncbi.nlm.nih.gov]
Gestational hypertension and pre-eclampsia were determined by the treating obstetrician's assessment and collapsed into a single group, gestational hypertension. [bmcpediatr.biomedcentral.com]
Irreversible pulmonary hypertension and right heart failure is the usual terminal event. [emedicine.medscape.com]
Ears
- Hearing Impairment
Sometimes being hearing impaired bothers me, because I’m shy and I don’t like asking people to speak louder for me. But I can read lips, unless you have an accent! [cdc.gov]
Workup
The most important imaging tool for the diagnosis of gastroschisis is antenatal ultrasonography, which is the cornerstone of imaging in pregnancy because it is noninvasive and not associated with exposure to radiation. Radiography is only used in the postnatal period and, for the same reason, the application of computerized tomography (CT) is inappropriate antenatally.
Ultrasonography allows for the detection of the location and features of the abdominal faults and differentiates amongst the different types of abdominal anomalies [5]. In the case of gastroschisis, the herniated bowels have no membranous covering; thus, the image shows free-floating bowel loops with irregular shapes. Although the small bowel is most frequently extruded, other organs may also be found floating in the amniotic fluid, such as the large intestines, stomach, urinary bladder, uterus, fallopian tubes, and testes. The extruded intestines may be inflamed and swollen.
Various studies have examined the value of fetal intestinal and other features detected by ultrasonography in predicting later complications. In addition to the signs mentioned above in connection with adverse outcomes, several other characteristics have been studied as predictors of complications. Intra-abdominal bowel dilatation and polyhydramnios were both associated with bowel atresia [6]. The predictive value of extra-abdominal dilatation is questionable: although one recent study found a significant association between extra-abdominal bowel dilatation and morbidity, a large percentage of patients with this type of anomaly were free from complications [7]. Magnetic resonance imaging (MRI) is used mainly in complicated cases or where ultrasound results are equivocal.
Serum
- Base Deficit
The end points of adequate fluid resuscitation are an appropriate heart rate, blood pressure, urine output of 1-2 cc/kg/hr, and normal base deficit. [cancertherapyadvisor.com]
Treatment
Treatment for gastroschisis is surgery to repair the defect. The surgeon will put the bowel back into the abdomen and close the defect, if possible. [nlm.nih.gov]
PURPOSE OF REVIEW: The diagnosis and treatment of gastroschisis spans the perinatal disciplines of maternal fetal medicine, neonatology, and pediatric surgery. [ncbi.nlm.nih.gov]
Babies are likely to do better if they do not need to be taken to another center for further treatment. [medlineplus.gov]
Treatment If gastroschisis is found before birth, the mother will need special monitoring to make sure her unborn baby remains healthy. Treatment for gastroschisis is surgery to repair the defect. [keckmedicine.adam.com]
Great progress has been made in the treatment of abdominal wall defects allowing for a greater than 90% survival. What are the causes of Pediatric Gastroschisis? The cause is unknown but is not thought to be hereditary. [childrens.com]
Prognosis
In newborns with isolated gastroschisis, the overall prognosis is very good. In rare cases, gastroschisis is associated with other congenital malformations, making the prognosis worse. [ncbi.nlm.nih.gov]
The prognosis of these cases is poor, but detecting these problems during pregnancy (antenatal diagnosis) and having fetal intervention may improve the outcome in the future. [6] Last updated: 11/21/2016 [web.archive.org]
In addition, although gastroschisis may be associated with gastrointestinal anomalies such as intestinal atresia, stenosis, and malrotation, it has a much better prognosis than omphalocele. Figure. [neoreviews.aappublications.org]
Etiology
CONCLUSIONS: These previously unreported combinations provide further support for vascular disruption in embryonic or fetal life as an etiological factor in these conditions. 2010 Wiley-Liss, Inc. [ncbi.nlm.nih.gov]
Epidemiology
We analyzed 11 administrative regions of Poland with complete epidemiologic data. [ncbi.nlm.nih.gov]
The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.ro]
Pathophysiology
Outcomes were extracted and assigned to the core areas, 'Pathophysiological Manifestations', 'Life Impact', 'Resource Use', 'Adverse Events' and 'Mortality'. RESULTS: A total of 50 outcomes were identified. [ncbi.nlm.nih.gov]
There may be genetic causes in some cases, and there may be environmental factors to which the mother is exposed during pregnancy.[8] Risk factors include the mother being young, and use of alcohol or tobacco.[8] Pathophysiology[edit] Gastrochisis in [en.wikipedia.org]
Zbl Chir 80:1987–1991, 1955 Google Scholar Haller AJ, Kehrer BH, Shaker IJ, Shermeta DW, Wyllie RG: Studies of the pathophysiology of gastroschisis in fetal sheep J Pediatr Surg 9:627–632, 1974 PubMed Article Google Scholar Hardaway RM: Gastroschisis. [link.springer.com]
Pathophysiology Embryology Following fertilization, cellular division generates a hollow sphere, bisected by a bilaminar plate composed of epiblast and hypoblast, which abut the amnion and yolk sac cavities respectively. [7] The epiblast cells form the [emedicine.medscape.com]
Prevention
The CDC funds the Centers for Birth Defects Research and Prevention, which collaborates on large studies such as: The National Birth Defects Prevention Study (NBDPS) The Birth Defects Study to Evaluate Pregnancy Exposures (BD-STEPS) In order to understand [disabled-world.com]
Bird TM, Robbins JM, Druschel C, Cleves MA, Yang S, Hobbs CA, & the National Birth Defects Prevention Study. Demographic and environmental risk factors for gastroschisis and omphalocele in the National Birth Defects Prevention Study. [web.archive.org]
It also prevents future herniation through the anatomical defect of the abdominal wall. [ncbi.nlm.nih.gov]
The increase has been driven by a sharp rise in the defect among babies born to young African American mothers, says a new report by the Centers for Disease Control and Prevention. [ktla.com]
Surgery to repair gastroschisis is complex and should take place as soon as possible following the infant’s delivery to prevent damage to the intestines. In the operating room, the intestines can often be replaced into the abdomen. [childrens.com]
References
- Eggink BH, Richardson CJ, Malloy MH, Angel CA. Outcome of gastroschisis: a 20-year case review of infants with gastroschisis born in Galveston, Texas. J Pediatr Surg. 2006;41(6):1103-1108.
- Siemer J, Hilbert A, Hart N, et al. Specific weight formula for fetuses with abdominal wall defects. Ultrasound Obstet Gynecol. 2008;31(4):397-400.
- Sinkey RG, Habli MA, South AP, et al. Sonographic markers associated with adverse neonatal outcomes among fetuses with gastroschisis: an 11-year, single-center review. 2016;214(2):275.e1-275.e7.
- Mesas Burgos C, Svenningsson A, Vejde JH, Granholm T, Conner P. Outcomes in infants with prenatally diagnosed gastroschisis and planned preterm delivery. Pediatr Surg Int. 2015;31(11):1047-1053.
- Fogata ML, Collins HB 2nd, Wagner CW, Angtuaco TL. Prenatal diagnosis of complicated abdominal wall defects. Curr Probl Diagn Radiol. 1999;28(4):101-128.
- D'Antonio F, Virgone C, Rizzo G, et al. Prenatal Risk Factors and Outcomes in Gastroschisis: A Meta-Analysis. Pediatrics. 2015;136(1):e159-169.
- Robertson JA, Kimble RM, Stockton K, Sekar R. Antenatal ultrasound features in fetuses with gastroschisis and its prediction in neonatal outcome. Aust N Z J Obstet Gynaecol. 2017;57(1):52-56.