What Is Gastroschisis

Overview

Gastroschisis is a life-threatening birth defect that occurs during the early stages of pregnancy, typically between the 4th and 8th weeks. This issue develops when the baby's abdominal wall doesn't completely seal, leaving a hole close to the belly button, usually on the right side. As a result, particularly when the hole is wider, the baby's intestines and, in certain cases, the stomach and liver protrude beyond the body. These organs are left in the amniotic fluid uncovered and floating. The intestines could experience problems including twisting and contracting as well as swelling and inflammation as a result of this exposure. Gastroschisis affects about one out of every 2,000 babies. Shortly after birth, emergency surgery is required to treat this dangerous disease, carefully positioning the organs. This article will review clinical manifestations, risk factors and causes, diagnostic tools, and management of gastroschisis.

Causes of gastroschisis

It is unknown what causes gastroschisis exactly. However, a combination of genetic and environmental factors, including the mother's diet, her exposure to particular chemicals, any medications she took while pregnant, and the mother's immune reaction to the baby's father's antigens, are thought to be responsible.¹ There is no evidence that gastroschisis is hereditary, and having one affected child does not increase the likelihood of having another.

It is normal for a baby's intestine to temporarily protrude through a hole in the belly wall and develop outside during the early stages of development inside their mother's womb.  After a few weeks, everything usually moves inside the baby's abdomen and the hole closes. Unfortunately, in cases of gastroschisis, the baby's abdominal wall sometimes fails to fully develop, leaving an open hole through which the intestines remain exposed to the outer environment without a protective covering.

Ongoing research is being done to find solutions to stop birth defects like gastroschisis. If you are pregnant or intend to get pregnant, speak with your doctor about ways to increase your chances of having a healthy child.

Risk factors

Recent studies have provided significant insight into the factors that could influence the possibility of having a child with gastroschisis. These risk factors include

• Younger age: According to research, teen women under the age of 20 may be at an increased risk of giving birth to a child who has gastroschisis.^2,3
• Alcohol and tobacco: Women who smoke or consume alcohol before or in the first trimester of pregnancy may increase the risk of having a baby with gastroschisis.^4,5
• Genitourinary infections: Women who experienced a genitourinary infection within three months before or after becoming pregnant have an increased chance of having a baby with gastroschisis compared to those who had the infection during the second or third trimester of pregnancy.⁶
• Medications: certain drugs like aspirin, ibuprofen, and decongestants (phenylephrine,  pseudoephedrine) may be associated with an increased risk of gastroschisis.^7,8

In addition to the risk factors mentioned above, there may be other factors that contribute to gastroschisis; however, further study is required to establish this.

Signs and symptoms of gastroschisis

There are normally no signs of gastroschisis during pregnancy, but an ultrasound examination may reveal the stomach and large or small intestines outside of the baby's body, and the intestines may be swollen or twisted.

Gastroschisis in newborns is characterized by the following:

• Lump in the abdomen;
• The Intestinal content protrudes through the abdominal wall, usually on the right side of the umbilicus. There is no membrane or sac covering the exposed organs, unlike the omphalocele. 
• Problems with digestion and absorption because the intestine is exposed to irritating amniotic fluid. Malabsorption caused by mucosal damage may lead to newborns being smaller compared to babies without this condition.
• The intestines are outside the gut, which causes rapid heat and water loss, dehydration, and low body temperature (hypothermia).

In complicated cases of gastroschisis, the bowel is extremely damaged, twisted, and tangled. It may even be shortened due to impaired blood delivery to the protruded intestine. About 10 to 20% of newborns with gastroschisis have intestinal atresia. Their bowels are incompletely formed or blocked. Another possible complication is bowel necrosis. As a result of inadequate blood flow or infection, gut tissue dies. Along with the intestines, other organs, such as the stomach, gallbladder, uterus, ovaries, testes, and bladder, may also protrude through the opening. 

Management and treatment for gastroschisis

Although gastroschisis can be diagnosed during pregnancy, treatment cannot begin until the child is delivered. To ensure the health of the unborn child, the mother will require additional monitoring. As soon as the baby is born, the problem needs to be addressed immediately since, if left untreated, it may be life-threatening. 

Surgery is required to reintroduce a baby's intestines into their body. To stop those organs from returning to the outside of their body, surgery also closes the hole near the belly button.

Depending on the complexity and severity of the gastroschisis, different types of surgery are carried out:

• Primary repair -  performed in uncomplicated gastroschisis cases.  If possible, the baby will receive surgery immediately after the delivery. 
• Staged repair: The surgery is done slowly and in phases if the gastroschisis is more complicated, such as when the gut is swollen or severely injured or when there is a lot of protruded bowel. If the child isn't healthy enough for surgery or if their abdomen isn't large enough to accommodate all of their organs, a phased repair may be the most practical option. This procedure is implemented over several days and can extend up to two weeks.

During the period between birth and surgery, the exposed organs are placed in a plastic pouch called a “silo” to protect them from infection, dehydration, and damage.

Because the baby's open intestine allows body heat to escape, it is important to carefully regulate the baby's temperature. The newborn might require ventilator support for breathing due to the pressure required to return the intestines to the belly. Infants may also get IV nutrition and medicines to avoid infection. Since milk feedings must be gradually introduced, IV nutrition will continue for a certain period even after the defect is repaired.

Diagnosis

Gastroschisis can be diagnosed either before or after delivery. Here is a brief description of the diagnostic procedures:

• During Pregnancy - Most cases can be discovered by the end of the first trimester (11 - 14 weeks), and certainly in the second trimester.
  • Ultrasound - utilizes sound waves to generate images of the developing infant's body and may reveal the freely floating bowel loops in the amniotic fluid. This often shows up when a pregnant woman undergoes a routine second-trimester ultrasound screening with her obstetrician. After gastAlthough on a prenatal ultrasound, doctors determine if it is isolated (no other related issues) or nonisolated (related structural anomalies).
  • Blood screening - evaluates substances such as alpha-fetoprotein (MSAF), that can indicate the presence of gastroschisis if levels are higher than normal. MSAFP assessment is routinely performed as part of second-trimester Down syndrome screening panels
  • Magnetic resonance imaging (MRI) - uses magnetic resonance to produce a detailed image of the inside of your body and the developing fetus. Although it is not routinely done, it might be if ultrasonography is insufficiently informative.
• After birth - Doctors can clinically diagnose gastroschisis when they observe a portion of the baby's intestines outside its body.

The diagnosis enables healthcare professionals to support parents during this challenging time and gives parents vital information about the baby's condition, which helps inform treatment choices.

FAQs

How can I prevent gastroschisis

Gastroschisis cannot be prevented through specific measures.

However, there are steps you can take to reduce the risk of having a baby with gastroschisis:

• Avoid getting pregnant at a young age.
• Refrain from smoking or using tobacco products.
• Avoid consuming alcohol during pregnancy.
• Cautiously use prescription painkillers and decongestants while pregnant.

It is important to seek regular prenatal care and follow healthcare provider recommendations for a healthy pregnancy.

How common is gastroschisis

One of the most prevalent prenatal abdominal wall disorders, gastroschisis, affects 3 to 4 out of every 10,000 live births and pregnancy losses.⁹ Singleton pregnancies are more frequent than twin pregnancies, and non-Hispanic White mothers are more likely to experience it than non-Hispanic Black mothers. The odds are similar for both male and female fetuses.¹⁰

Who is at risk of gastroschisis?

Infants born to young pregnant women under the age of 20 are more likely to have gastroschisis. Additional risk factors include lifestyle choices like smoking, using certain medications or alcohol, and having more genitourinary infections often when pregnant.

When should I see a doctor?

In the event that your infant exhibits any of the following signs at home after being identified and treated after birth in the hospital:

• A reduction in bowel movement
• Feeding issues.
• Temperature
• Yellow-green vomiting.
• Belly-area swelling
• A new type of baby spit-up-like vomiting.
• Disturbing behavioural alterations.

Summary

Gastroschisis is a fatal birth defect which occurs early in pregnancy, where the baby's abdominal wall fails to seal entirely, resulting in the intestines and sometimes other organs protruding outside the body. Younger maternal age, maternal smoking and alcohol use, genitourinary infections, and specific drugs are risk factors for gastroschisis. A diagnosis can be made either before or after delivery by visually inspecting the exposed organs, or during pregnancy by ultrasound, blood testing, and rarely MRI. Surgery is used as a kind of treatment to cover the hole and replace the organs, with primary repair or phased repair options available depending on how complicated the problem is. During gastroschisis management, careful observation, temperature control, and nutritional assistance are essential.