Gastroschisis is a defect, typically found after the baby is born, which is connected with the incorrect formation of the abdominal wall. In this situation, a hole appears near the belly button, and the baby’s intestines and, in many cases, other organs fall outside of the body through it. Such an abnormality is met in approximately 1 case in 3,000 births (The Fetal Medicine Foundation, n.d.). According to the Centers for Disease Control and Prevention (CDC), there are approximately 1,871 babies born with gastroschisis in the United States each year (n.d.). About 1,871 infants all over the world die from this disease annually (Glasser, 2019a). Medical science has been studying this problem for the past decades to find the reasons for this condition and elicit potential factor risks to prevent it. There are also numerous arguments about the role of ultrasound and other ways of examination in the process of detection of the diagnosis to be able to take necessary measures to save the baby’s life.
Medical Information on Gastroschisis
Medical Background and Definition of the Diagnosis
Gastroschisis is a rare defect, which is found after the baby is born or during the ultrasound examination of the pregnant woman. The disease is also known in medicine as congenital fissure or laparoschisis (National Organization for Rare Disorders [NORD], n.d.). The name “gastroschisis” is derived from two words, “gastro” translated as “related to the stomach” and the Greek term “schisis”, meaning separation (NORD, n.d., para. 3). The condition refers to “an extra-abdominal herniation (evisceration) of fetal or neonatal bowel loops (and occasionally portions of the stomach and or liver) into the amniotic cavity through a para-umbilical anterior abdominal wall defect” (Rasuli & Radswiki, n.d., para. 1). Gastroschisis occurs during the early stages of pregnancy in case of the muscles in the fetus’s abdominal wall form incorrectly.
The condition is characterized by the appearance of a hole, which may have a small or large size, allowing the intestines to grow on the external part of the body, typically, to the right side of the belly button. Organs remain without their “protective sac” and appear to be exposed to the amniotic fluid, which leads to irritation, causing shortening, twisting, or swelling of the intestines (“Gastroschisis,” 2020). Based on how inflamed the bowel and organs are, gastroschisis can be divided into two types: simple and complicated (“Gastroschisis,” 2020). At the complicated stage, there are one or more the possible symptoms:
- The extreme damage to the bowel, can involve necrosis, death of part of the tissue, or twisting.
- Intestinal atresia occurs in situations when a part of the bowel is not entirely formed, or the intestine is blocked.
- Other organs, such as the stomach or liver, are outside of the body together with the bowel.
However, simple cases are met more often than complicated ones. According to the estimations, “the survival rate for infants born with gastroschisis is approximately 90%” (Page, Ferraro, Moretti, & Fung, 2014, para. 2). However, every year, babies all over the world die from this condition as it remains not clear in many aspects and the studies continue. Nevertheless, there is already much available information about the symptoms and possible risk factors of this disease, which provide opportunities for early detection and treatment.
Causes and Risk Factors of Gastroschisis
Medical science does not have an answer to the question about the exact mechanism and causes of gastroschisis. However, there have been several theories recently offered by experts. One of the last researches has suggested that “gastroschisis is a midline defect of the primordial umbilical ring based on findings in human fetuses and newborns” (NORD, n.d., para. 10). Approximately 35 days after conception, the amnio-ectodermal junction can remain on the right side and separate later than normal, which leads to the extrusion of the bowel and other organs. This theory is based on a thorough medical evaluation of human fetuses together with a general understanding of the concept of evolution.
Moreover, according to the statistics, there were a few cases when gastroschisis occurred in siblings. According to different studies, this condition may be a result of “an autosomal recessive or dominant inheritance pattern in some families” (NORD, n.d., para. 10). Such disorders can occur in situations when a baby inherits a damaged gene from each parent. There are also cases when an individual receives only one damaged gene, while the other one is normal. In this situation, a person is typically not showing symptoms of the disease but will become a carrier for it. The research shows that the risk for” two carrier parents to both pass the abnormal gene and, therefore, have an affected child is 25% with each pregnancy” (NORD, n.d., para. 11). The risk that a child will become a carrier, like the parents, is 50% with each pregnancy (NORD, n.d.). There is also a 25% chance of receiving good genes from both parents (NORD, n.d.). Numerous studies have also proven that the risks do not depend on gender and remain the same both for males and females.
Multiple types of research have also shown that chromosomal or genetic abnormalities have not been always reported when encountering gastroschisis. Today, experts suggest that it can be explained by numerous factors of inheritance, meaning that a certain combination of genes or their susceptibility to external factors can cause the defect. However, it has been established that there are two consistent risk factors for gastroschisis: maternal age as the risk of the appearance of the disease in women younger than 20 years and exposure to cigarette smoke, drugs, and alcohol. The usage of certain medications, such as aspirin, ibuprofen, and acetaminophen, can also increase the chances of the occurrence of this disorder. In addition, there have been several studies, which have found that maternal genitourinary tract infections can also increase the chances of gastroschisis development.
There are two differential diagnoses, which are similar to gastroschisis in many aspects, and doctors need a good understanding of their unique traits to be able to establish the right diagnosis for a successful treatment. The first disease is omphalocele, also known as exomphalos, “a protrusion of internal abdominal organs from a defect of the umbilical ring” (NORD, n.d., para. 18). It may be small with a small part of the bowel situated outside or all of the intestines, as well as other organs, for example, the stomach or the liver. The main difference between gastroschisis is that the organs are covered with a membranous sac. Numerous experts suggest that omphalocele and gastroschisis may be different manifestations of the same condition, however, it has not been proven by any research. The second condition is physiological gut herniation, which can occur in early gestation due to the fast growth of the bowel, which elongates and moves outside of the abdomen (Rasuli & Radswiki, n.d.). However, with this condition, the intestines return to the abdominal cavity at approximately 10-11 weeks when the abdomen enlarges.
Symptoms and Signs of Gastroschisis
Gastroschisis is diagnosed after the baby is born or at the ultrasound examination during the pregnancy. Infants with this condition “have a 2-5 cm opening within the umbilical ring in which abdominal organs appear on the outer surface of the abdomen” (NORD, n.d., para. 4). The abdominal cavity typically has a smaller size and the membranous sac protecting inner organs is absent. This hole is generally situated on the right side and adjacent to the umbilical cord, which is attached to the left side. Due to the exposure to the liquid surrounding the fetus during pregnancy, the intestines often look swollen, thickened, and covered with a thick fibrous substance. There is always twisting of the bowel, increasing the risks for obstruction, which can become an obstacle to a normal blood supply. Moreover, the function of the bowel is often delayed due to malabsorption and hypomotility, or deficient movement (NORD, n.d.). In approximately 10% of the cases, there is also an absence or closure (atresia) of the intestines and other gastrointestinal tract abnormalities (NORD, n.d., para. 6). Among other problems related to the disorder are infection, dehydration, hypothermia, slow growth, and heart abnormalities.
Methods of Detection and Treatment of Gastroschisis
The Role of Ultrasound
There are screening tests, also known as prenatal examinations, which are made for a woman during pregnancy to check for various birth defects, including gastroschisis. This disorder can be found as early as 14 weeks of pregnancy. Ultrasound, allowing seeing the baby’s body inside the womb is the most important method of disorder detection. The ultrasound examination is important because it helps to estimate the condition of the bowel before birth, allowing doctors to make a prognosis for neonatal comorbidities. Defects can be detected with the help of a highly detailed ultrasound, which can show loops of intestines floating in amniotic fluid. There is also a classification, dividing infants with gastroschisis into two groups having different outcomes, based on the presence or absence of related bowel complications, such as atresia, necrosis, perforation, and ischemia (Page et al., 2014, para. 3). In case the defect is found during pregnancy, women are advised to make ultrasound scans every 4 weeks “to monitor growth, amniotic fluid, fetal oxygenation (UA-PI, MCA-PI, and DV-PI), and intra-abdominal bowel dilatation” (The Fetal Medicine Foundation, n.d., para. 6). Regular examination helps to predict multiple outcomes related to the disorder.
Laboratory Tests and Physical Evaluation
Gastroschisis may also be detected during a blood or serum screening test. According to numerous studies, the elevation of maternal serum alpha-fetoprotein (MSAFP) is related to abdominal wall defects. MSAFP levels “are higher in gastroschisis than in omphalocele, and they are also increased in spina bifida, which additionally increases the ratio of acetylcholinesterase and pseudocholinesterase” (Glasser, 2019b, para. 1). Mothers can also be tested for” elevated alpha-fetoprotein (AFP), a substance produced by the fetus that is found in fetal serum, amniotic fluid, and the mother’s bloodstream” (UPMC, n.d., para. 4). In case the mother’s levels are increased, it may be a sign of the baby losing it from their body. During pregnancy, there is also a possibility of an MRI and a fetal echocardiogram to test the baby’s heart function. After the birth, the diagnosis can be approved by physical examination of the baby, which allows estimating the size of the opening and the state of the bowel and other organs. Then, there is a need to receive consultations with specialists, such as an obstetrician, neonatologists, and pediatric surgeons, who will decide on the future treatment.
Babies with gastroschisis cannot be treated while inside the womb. The woman with such a pregnancy should be hospitalized for delivery at 38 weeks or earlier in case of the detection of such conditions as slow growth, hypoxia, or dilatation of intrabdominal bowel, more than 20 mm (The Fetal Medicine Foundation, n.d.). The treatment can begin only after the baby is born and would include immediate surgery to” place the abdominal organs inside the baby’s body and repair the defect” (CDC, n.d., para. 13). If gastroschisis is simple when only part of the intestine is outside, the surgery is typically performed soon after birth, the organs are put back into the belly and the opening is being closed. In case the defect is large, the repair is done slower, usually in a few stages. With a more complicated surgery, there is a plastic pouch or “silo”, which is placed around the bowel and attached to the belly. Doctors are gradually pushing the intestines inside, tightening the silo every day. When all the inner organs are inside, the pouch is removed and surgeons close the opening.
After the surgery, many children require a breathing machine for a few days. Moreover, in a few cases, babies born with gastroschisis may have a part of the bowel, which is not properly formed. In such situations, there may be a need for more interventions. They include bowel resection, when part of the bowel is extremely damaged, colostomy, an opening to allow stool to pass out of the body, or intestinal transplantation in rare cases when a new intestine is needed (“Gastroschisis,” 2020). In addition, babies with gastroschisis usually require such treatments as receiving nutrients through an IV line, antibiotics for preventing infection, medications for pain relief, and careful attention of parents and nurses to control the general condition and body temperature. Approximately 90% of children with this pathology survive after the treatment, however, chances for numerous complications exist in such cases.
The main cause of death of babies with gastroschisis is short bowel syndrome. According to the statistics, fetal death occurs in 2-4% of cases (The Fetal Medicine Foundation, n.d.). There is also a risk of “bowel atresias or obstruction secondary to volvulus and/or ischemia at the hernial orifice is about 10-30% of cases” (The Fetal Medicine Foundation, n.d., para. 5). In 30-60% of cases, there is fetal growth restriction and spontaneous preterm birth in approximately 30% of situations (The Fetal Medicine Foundation, n.d.). Moreover, several complications are influencing the bowel, which may include in utero perforation, meconium peritonitis, motility dysfunction, necrotizing enterocolitis, short-gut syndrome, fistula formation, neonatal gastro-esophageal reflux, especially after the surgery (Rasuli & Radswiki, n.d.). In general, babies with gastroschisis are typically smaller than average and their development takes more time than the growth of healthy children. However, long-term consequences occur in severe complicated cases and may be related to feeding, bowel, or infection issues.
Case Study: Patient History
Gastroschisis continues to be studied by doctors and scientists all over the world, making attempts to find reasons for this disorder’s development. From this perspective, the stories of women giving birth to children with this condition play a major role in analyzing the nature of the defect. There is a study, which considered cases of such complicated births (Fawkner-Corbett, Shepherd, & Lakhoo, 2016). The second case, described in the article, serves as a bright example of difficulties, which may appear in the process of treating children with gastroschisis. This is a story of a woman, who was detected with gastroschisis during the 12-week antenatal scan. At 37 weeks of gestation, she had a premature rupture of membranes and ad an emergency cesarean section due to fetal tachycardia.
The woman gave birth to a female infant of 2.2 kg. Examination showed a “small abdominal defect (0.5–1 cm) with the surrounding skin adherent to the external bowel” (Fawkner-Corbett et al., 2016, para. 9). A large amount of small and large bowel together with the appendix was outside. The diagnosis of gastroschisis was proved and the bowel was placed back into the abdomen during the surgery. Two weeks after the operation, the patient suddenly demonstrated proximal dilation and went through a second laparotomy (Fawkner-Corbett et al., 2016, para. 10). There were no signs of atresia or necrosis and the baby recovered well. However, one month later the baby returned with fevers, loose stools, and vomiting. Abdominal radiography showed pneumatosis, and she was treated conservatively for necrotizing enterocolitis with antibiotics (Fawkner-Corbett et al., 2016, para. 10). One month later, she was sent home and in half a year she showed good development and gained weight.
To conclude, this case highlights the importance of close monitoring of patients with an antenatal diagnosis of gastroschisis to differentiate between the terms. In the studied situation, the baby required radiological, obstetric, neonatal, and surgical interventions to help them recover. This example also shows difficulties, which may occur in the process of treatment, and proves there is a need for a good team of doctors and nurses to help children with this diagnosis. However, the results of this research demonstrate that in acute abdominal wall defects a positive outcome is possible in case of immediate medical assistance and well-timed diagnosis detection (Fawkner-Corbett et al., 2016). The study has also proved the idea that gestation age does not influence the severity of the condition.
Gastroschisis is a birth defect, characterized by the incorrect formation of the abdominal wall. The condition is manifested through the bowel and other organs, such as the liver, appendix, and stomach, extending on the outside of the baby’s body through the hole on the right side from the belly button. The disorder can be simple with only part of the intestines being on the external side, complicated with other organs being pushed out, or when a part of an organ is twisted or has dead tissues. Simple cases prevail in the medical practice and severe ones are rarely met. Medical science continues studying the phenomenon to understand its nature and causes to be able to prevent it from happening. However, there is still little information on the subject as some theories consider the role of genetics, assuming that a combination of abnormal genes with environmental factors leads to this disorder. So far, it has only been established that the young age of mothers and alcohol, drug, and tobacco abuse can have a serious impact on the fetus, capable of increasing the chances of gastroschisis.
Today, such congenital conditions can be revealed at the early stages of pregnancy with the help of screening tests and ultrasound examinations. It allows doctors to control the state of the fetus throughout the whole period and estimate its state before the actual birth to be able to begin treatment immediately after the baby is born. Infants having gastroschisis require immediate surgery or a few stages of it in complicated cases. Doctors gently place internal organs back into the abdominal cavity and close the hole in the stomach. According to numerous studies, the survival rate with this condition is approximately 90% and most of the children live a normal life after the operation and develop like all other kids without any specific health issues.
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