Learn about Gastroschisis, a birth defect where the baby's intestines are outside the body, including its causes, treatment, and outlook, on Meri Sehat.

Gastroschisis

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ZAKA CLINIC GULBERG LAHORE

Saad Ullah Siddiqui

Overview

Derived from the Greek word &lsquo;gastro&rsquo; (stomach) and &lsquo;schisis&rsquo; (separation), gastroschisis is an abdominal wall defect that presents at birth. The birth defect causes an opening near the baby&rsquo;s belly button through which the intestines, and other organs, often protrude. 
&nbsp;

Gastroschisis is the most common abdominal wall defect. Babies with the birth defect are born with a hole beside their belly button, mostly on the right side. It can vary in size between one and two inches. The intestines and sometimes organs such as the stomach and/or liver can protrude through the perforation. 
&nbsp;

Although rare, the incidence of gastroschisis has seen a rise in recent years. Approximately 1 in 4,000 live births are affected by the birth defect<a href="#accordion">[1]</a>. There is no difference in incidence between male and female infants. Hispanics, singleton pregnancies, and younger women under 20 have greater incidence rates<a href="#accordion">[1]</a>. 
&nbsp;

Infants with gastroschisis are more likely to experience gastric reflux (16%) and undescended testicles (15%) in their first year of life<a href="#accordion">[2]</a>. However, the latter condition frequently resolves on its own. Compared to other abdominal wall defects, gastroschisis has a good prognosis, with an overall survival rate of 95%<a href="#accordion">[3]</a>. 
&nbsp;

Based on the severity of the disease, gastroschisis can be classified into two types: 
&nbsp;

<ol>
	<li>Simple Gastroschisis - Approximately 75% of cases are simple<a href="#accordion">[1]</a>. It is characterized by only the bowel exiting through the abdominal opening. 
	&nbsp;</li>
	<li>Complicated Gastroschisis - Approximately 25% of cases are complex<a href="#accordion">[1]</a>. It is characterized by one or more of the following:</li>
</ol>

<ul>
	<li>The protruding bowel is&nbsp;severely injured, for example, it&nbsp;becomes twisted or coiled, or some of the tissue dies (necrosis).</li>
	<li>Intestinal atresia, in which a part of the intestine does not form completely or there is a blockage of the intestine.</li>
	<li>Other organs, like the stomach or liver, protrude out of perforation as well. 
	&nbsp;</li>
</ul>

Signs and Symptoms

During pregnancy, the mother feels no symptoms. However, ultrasound can help pick up the findings indicating gastroschisis. Once the baby is born, he or she may experience the following symptoms: 
&nbsp;

<ul>
	<li>Since their intestines are outside the body, this causes rapid water and heat loss, causing dehydration and hypothermia.</li>
	<li>Up to 10% of newborns with gastroschisis have missing or closed intestines (atresia).</li>
	<li>Due to inadequate movement and malabsorption, most newborns&#39; bowel function is delayed (hypomotility). </li>
	<li>The abdominal cavity is smaller than usual.</li>
	<li>The extruded intestines and other organs have no membranous sac covering them. 
	&nbsp;</li>
</ul>

Moreover, other than the intestines, the following organs can also protrude through the wall defect:

<ul>
	<li>Stomach&nbsp;</li>
	<li>Uterus</li>
	<li>Gallbladder</li>
	<li>Ovaries</li>
	<li>Bladder</li>
	<li>Testes<a href="#accordion">[5][6][7]</a>. 
	&nbsp;</li>
</ul>
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Causes

Normally, the skin, and muscles, that form the abdominal wall close completely by the 12th week of pregnancy. An abdominal wall defect results from an inability of the muscles and skin to form normally. This usually occurs during the 4th and 8th weeks of pregnancy. 
&nbsp;

Gastroschisis develops due to the failure of the formation of the ventral body wall during embryogenesis, leading to herniation of the bowel. The cause is not yet completely understood. 
&nbsp;

However, several studies suggest that gastroschisis may be inherited in a dominant or autosomal recessive manner in some families. In recessive genetic disorders, if both parents carry one abnormal gene, there is a 25% chance of their child being born with the disease. Whereas, the risk of the child being a carrier, similar to the parents, is 50% with each pregnancy. Moreover, the chance of the child having normal genes is 25%. It is important to note that carriers are not at risk of developing the disease, but can pass on the abnormal gene to their offspring. 
&nbsp;

In dominant genetic disorders, a single abnormal gene is enough to bring about the disease. An affected parent can pass on the gene to their offspring even if their partner does not carry any mutated gene. There is a 50% risk of the offspring receiving the mutated gene in this case. 
&nbsp;

Mutations of&nbsp;certain&nbsp;genes, including ICAM1, NOS3, and NPPA, have also been linked to an increased risk for gastroschisis. However, these findings are preliminary, and additional investigation is required to ascertain whether these mutations can result in gastroschisis<a href="#accordion">[7]</a>. 
&nbsp;
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Diagnosis

While there are no specific screening tests for gastroschisis, prenatal testing can help detect the defect during pregnancy. 
&nbsp;

During pregnancy, gastroschisis does not cause any symptoms in the mother. A prenatal ultrasound, generally performed at 20 weeks gestation, is commonly used to identify gastroschisis. The imaging scan may show:

<ul>
	<li>Free floating bowel loops</li>
	<li>Thickening and dilation of intestines</li>
	<li>Twisted intestines</li>
	<li>Intestinal atresia</li>
	<li>Polyhydramnios 
	&nbsp;</li>
</ul>

Other diagnostic tests include:

<ol>
	<li>Blood Screening: Elevated blood alpha-fetoprotein (AFP) levels are also a sign of gastroschisis. The mother&rsquo;s serum levels are normally tested between 18 and 22 weeks.</li>
	<li>Magnetic Resonance Imaging (MRI): An MRI scan allows a detailed image of the fetus&rsquo; organs&nbsp; within the womb</li>
	<li>Fetal Echocardiogram: This allows a pediatric cardiologist to assess the baby&rsquo;s heart and surrounding vessels. 
	&nbsp;</li>
</ol>

In the absence of a screening ultrasound or blood test, the appearance of the baby&rsquo;s organs at birth confirms the diagnosis<a href="#accordion">[2]</a>. 
&nbsp;

Treatment

Gastroschisis cannot be treated while the baby is still in the mother&#39;s womb, and can only begin once the baby is delivered. However, the pregnancy needs to be carefully monitored as growth restrictions may be seen in up to 60% of cases. 
&nbsp;

<ul>
	<li>Management During Pregnancy: Following a diagnosis of gastroschisis, ultrasounds are used to assess fetal growth and amniotic fluid volume every three to four weeks, beginning at 24 weeks of gestation. Reduced amniotic fluid (oligohydramnios) can be a sign of fetal growth restriction and is a risk of cord compression. Whereas, excess amniotic fluid (polyhydramnios) may be a sign of bowel atresia. 
	&nbsp;</li>
	<li>Management During And After Delivery: Women carrying babies with gastroschisis typically deliver spontaneously by the 36th week of pregnancy. There are no contraindications to the vaginal delivery of these infants. However, in cases of liver herniation, a cesarean section is advised. After delivery, initial management is aimed at protecting the exposed bowels. This is achieved by placing the infant&rsquo;s lower body into a bowel bag. This not only protects the bowel but also helps visualize the blood flow and perfusion of the bowel. Moreover, the stomach may be decompressed using an orogastric tube. Antibiotics and maintenance fluid is administered through a peripheral intravenous line.&nbsp; Due to exposed intestinal fluid losses, intravenous fluids are given two to three times as usual. 
	&nbsp;</li>
	<li>Surgical Management: The aim of surgical repair is to return the exposed intestines and organs while avoiding intestinal injury or increased intra-abdominal pressure. The two treatment options are:</li>
</ul>

<ol>
	<li>Primary Repair - This is often reserved for simple gastroschisis and is conducted immediately after the baby is born. If only some of the intestine protrudes out, and the bowel is not damaged or overly swollen, then a primary repair is considered. The surgery involves placing the bowel back inside the body and stitching the defect close. 
	&nbsp;</li>
	<li>Staged Repair - Often, at times, the infant&rsquo;s abdomen is too small to fit back all the bowels and organs, the bowels are very swollen, or the baby is not well enough for surgery. In such complicated cases, a staged repair can be most effective. It involves placing the intestines in a silo. This is a sterile plastic bag that prevents dehydration, infection, and any intestinal damage. The silo also allows the water to move out of the swollen intestines, shrinking the bowels. Moreover, as the intestines return to normal size, the doctors gradually tighten the silo. The process of placing the intestines back into the abdomen usually takes about 3-4 days. During this process, the child is fed intravenously to keep the stomach empty. Once the organs and intestines are back in the abdomen, the silo is removed and the defect is stitched closed. 
	&nbsp;</li>
</ol>

Approximately 10% of babies with gastroschisis are also born with a part of the intestine that fails to develop correctly. They may require additional surgical procedures, such as:

<ul>
	<li>Bowel Resection - Removal of a severely damaged part of the bowel</li>
	<li>Colostomy Or Ileostomy - A stoma bag is attached through an opening in the abdominal wall and collects the stool</li>
	<li>Intestinal Transplant - A new intestine is transplanted 
	&nbsp;</li>
</ul>

Surgical treatment is associated with complications, such as:

<ul>
	<li>Infection at surgical site</li>
	<li>Feeding problems 
	&nbsp;</li>
</ul>

When To Contact A Medical Professional<a href="#accordion">[10]</a>

Please contact a healthcare professional if any of the following problems occur after returning home&nbsp; post-surgery:

<ul>
	<li>Feeding problems</li>
	<li>Decreased bowel movements</li>
	<li>Fever</li>
	<li>Yellowish or green vomit</li>
	<li>Swollen belly area</li>
	<li>Vomiting which is different than regular baby spit-up</li>
	<li>Behavioral changes<a href="#accordion">[1][9]</a>. 
	&nbsp;</li>
</ul>
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Preterm delivery is a common complication in approximately 28% of infants with gastroschisis, versus 6% of infants without gastroschisis<a href="#accordion">[1]</a>. Moreover, up to 10% of newborns also suffer atresia, most commonly jejunal or ileal1. Other common complications include: 
&nbsp;

<ul>
	<li>Short bowel syndrome - A rare condition in which a large part of the intestine does not work properly. This could be due to the abdominal wall closing partially and restricting blood flow to the intestine, or the intestine twisting and cutting off its own blood supply. 
	&nbsp;</li>
	<li>Even after the organs are placed back within the abdominal cavity, newborns&#39; intestines may not function normally due to exposure to amniotic fluid. Gastroschisis-affected infants require time for their intestines to heal and adapt to feedings<a href="#accordion">[10]</a>. 
	&nbsp;</li>
	<li>The displaced abdominal contents&#39; increased pressure might reduce blood flow to the kidneys and intestines, which can worsen the organs&#39; long-term health. Additionally, it can hinder a baby&#39;s ability to expand its lungs, which can cause breathing issues<a href="#accordion">[10]</a>. 
	&nbsp;</li>
	<li>Bowel death necrosis is&nbsp;another potential consequence. Intestinal tissue dies as a result of a lack of blood flow or infection. When infants are fed breast milk rather than formula, this risk might be decreased<a href="#accordion">[10]</a>. 
	&nbsp;</li>
</ul>

The following factors may put mothers at a higher risk of having a baby with gastroschisis: 
&nbsp;

<ul>
	<li>Teenage mothers</li>
	<li>Lesser resources</li>
	<li>Lack of nutrition during pregnancy</li>
	<li>Alcohol consumption</li>
	<li>Genitourinary infections in the second or third trimester</li>
	<li>Use of cocaine, tobacco, or methamphetamines</li>
	<li>Nitrosamine exposure, a chemical found in makeup, food, and cigarettes</li>
	<li>Use of acetaminophen, ibuprofen, and aspirin</li>
	<li>Use of decongestants which may contain chemical pseudoephedrine or phenylpropanolamine<a href="#accordion">[9]</a>. 
	&nbsp;</li>
</ul>

Unfortunately, there are no known ways to prevent gastroschisis. However, by trying to reduce as many of the above risk factors as possible, you may reduce your chances of your baby being born with this ailment. 
&nbsp;

Key Points

<ul>
	<li>Gastroschisis is an abdominal wall defect, an opening near the belly button through which the intestines often protrude. </li>
	<li>Gastroschisis typically develops during the 4th through 8th week of pregnancy.</li>
	<li>The intestines are exposed to amniotic fluid as there is no layer protecting them. Due to prolonged exposure, the intestines may be enlarged and covered in a thick coating, which might affect how well they operate.</li>
	<li>There are 2 types of gastroschisis based on the severity - simple gastroschisis and complicated. Up to 75% of gastroschisis cases are simple, while 25%&nbsp;are complicated.</li>
	<li>Diagnosis can be made by antenatal ultrasound, blood screening, and MRI scans.</li>
	<li>Gastroschisis cannot be treated while the baby is still in the mother&#39;s womb, and can only begin once the baby is delivered.</li>
	<li>Infection at the surgical site and difficulty eating are common post-surgery complications.</li>
	<li>Preterm delivery is more common in infants with gastroschisis, 28% versus 6% in infants without.</li>
	<li>Teenage mothers are at a higher risk of giving birth to babies with gastroschisis. Smoking, alcohol consumption, and genitourinary infections also increase one&rsquo;s risk.</li>
</ul>
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[1]  Rentea RM, Gupta V. Gastroschisis. [Updated 2022 May 8]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls

[2] Coran AG, Adzick NS. Chapter 75 - Congenital Defects of the Abdominal Wall. In: Pediatric Surgery. Seventh ed. Philadelphia, PA: Elsevier Mosby; 2012:973-984.