Now Know All about Gastroschisis: Cause, Symptoms, Diagnosis, Treatment

Gastroschisis is a rare congenital birth defect where a baby is born with its intestines (and sometimes other organs) outside the body, protruding through a hole in the abdominal wall near the belly button. Unlike another condition known as omphalocele, in gastroschisis, the exposed organs are not covered by a protective sac. This defect requires surgical intervention soon after birth to place the organs back inside the abdomen and repair the abdominal wall. With proper treatment, the prognosis for babies with gastroschisis can be positive, but it often involves complex medical care. (Source)

What is Gastroschisis?

Gastroschisis is a condition where there is an abnormal opening in the abdominal wall, usually to the right of the umbilical cord. This opening allows the intestines and sometimes other organs (such as the stomach or liver) to extend outside of the baby’s body. The organs are exposed to amniotic fluid in the womb, which can cause irritation and damage to them. This exposure can lead to complications like swelling or infection after birth. (Source)

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How is Gastroschisis Caused?

The exact cause of gastroschisis is not well understood, but it is believed to result from abnormal development of the abdominal wall during early pregnancy. Researchers suggest that it could be linked to several factors:

1. Vascular disruption: Blood supply to the developing abdominal wall might be interrupted, leading to incomplete closure and the formation of a hole.
2. Genetic and environmental influences: While specific genetic mutations have not been definitively linked to gastroschisis, a combination of genetics and environmental exposures may contribute to its development.

Gastroschisis typically develops in the early stages of pregnancy, between the 4th and 8th week of gestation, when the abdominal organs are forming and migrating into their proper positions. (Source)

History and Science of Gastroschisis

Gastroschisis was first described in the medical literature in the 18th century, though the term was not coined until the early 20th century. Surgical techniques to treat this condition have improved significantly over the past few decades, contributing to better survival rates.

• Medical advancements: The treatment of gastroschisis involves surgery, which has become highly successful due to advances in neonatal care, surgical techniques, and infection control.
• Scientific understanding: Researchers have identified that abnormal blood flow during fetal development is one of the potential causes. While the condition’s origins are not fully understood, medical science continues to explore genetic and environmental factors that may contribute to the defect. (Source)

Risk Factors for Gastroschisis

Several factors have been associated with an increased risk of gastroschisis:

1. Young maternal age: Gastroschisis is more common in babies born to mothers under 20 years of age, though it can occur in women of any age.
2. Substance use: Smoking, alcohol consumption, or drug use during pregnancy, particularly the use of recreational drugs like cocaine, has been linked to a higher risk of gastroschisis.
3. Environmental exposures: Exposure to certain chemicals or pollutants during pregnancy may increase the risk.
4. Low maternal body mass index (BMI): Women with a low BMI before pregnancy are more likely to have a baby with gastroschisis.

It is important to note that gastroschisis is not typically associated with other genetic abnormalities or syndromes, making it different from many other congenital conditions. (Source)

Treatment for Gastroschisis

Gastroschisis is treated surgically after the baby is born, usually within a few hours. The treatment approach depends on the severity of the condition and how much of the intestine is outside the body:

1. Surgery: After birth, the exposed organs are covered with a sterile material to prevent infection. The surgeon will gradually return the intestines to the abdominal cavity, sometimes doing this in stages if the abdominal cavity is too small to accommodate all the organs at once. In some cases, a “silo” is placed over the exposed organs, and the organs are gently pushed back into the abdomen over a few days. Once the organs are in place, the abdominal wall is surgically closed.
2. Post-operative care: After surgery, the baby may need to stay in the neonatal intensive care unit (NICU) for several weeks to monitor their recovery. They may require nutritional support, as the intestines often do not function properly immediately after surgery.
3. Feeding and nutrition: Babies with gastroschisis often have difficulty feeding and absorbing nutrients, especially in the early stages of recovery. Intravenous feeding (parenteral nutrition) is often necessary until the intestines begin functioning properly.

With proper treatment, the prognosis for infants with gastroschisis has improved significantly, and survival rates are high. However, long-term complications, such as feeding difficulties, intestinal obstructions, or developmental delays, may occur. (Source)

Can Gastroschisis Be Prevented?

Currently, there is no guaranteed way to prevent gastroschisis. However, steps can be taken to reduce the risk of birth defects:

1. Avoid substance use: Pregnant women should avoid smoking, alcohol, and illicit drugs, as these have been linked to an increased risk of gastroschisis.
2. Folic acid supplementation: Although the role of folic acid in preventing gastroschisis is not as clear as with neural tube defects, maintaining proper levels of folic acid before and during pregnancy is recommended for overall fetal development.
3. Environmental precautions: Reducing exposure to harmful chemicals and pollutants during pregnancy can help minimize the risk of birth defects, including gastroschisis. (Source)

Is Gastroschisis Hereditary?

It is not considered a hereditary condition. Most cases occur sporadically, meaning there is no clear genetic link or family history involved. While there may be some genetic predisposition in certain cases, gastroschisis does not follow a simple inherited pattern, and parents who have had one child with the condition are not significantly more likely to have another affected child. (Source)

Can Gastroschisis Be Cured?

It can be treated successfully through surgery. While the condition itself cannot be “cured” before birth, surgical intervention after birth typically resolves the immediate issue of the exposed organs. However, long-term management may be needed for complications, such as feeding difficulties or gastrointestinal problems, but many babies go on to lead healthy lives after treatment.

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Conclusion

It is a rare but serious congenital birth defect in which a baby is born with intestines and sometimes other organs outside of the abdominal wall. While the exact cause is unknown, factors such as young maternal age, substance use during pregnancy, and environmental exposures may increase the risk. Fortunately, modern surgical treatments have greatly improved survival rates and outcomes for babies born with this condition. Prevention focuses on maintaining a healthy pregnancy and avoiding harmful substances, though it cannot be fully prevented. With proper medical care, many babies with gastroschisis can recover and lead healthy lives.