Gastroschisis: Information on Causes, Diagnosis & Treatments

Birth Defect Intestine Not Placed Correct Gastroschisis is a birth defect where the baby is born with his or her intestines outside of the abdominal wall that has grown through a hole next to the navel (belly button). The hole might be large enough to allow other organs including the liver or stomach to pass through and function outside the body. A number of contents that are typically behind the abdominal wall that protrudes outside of the fetus can vary greatly between pregnancies. Some babies are born with only a few loops of their bowel outside their body while others have quite a large hole where the stomach, intestines and other organs have protruded to the outside.

Gastroschisis develops during the first term of pregnancy when the abdominal wall is beginning to form. The condition causes an abnormal formation where a hole develops on the right side of the navel. Unlike other organs in the body, the intestines lack a protective sac covering and are thus exposed to amniotic fluid which could cause an irritation to the bowels that lead to swelling, twisting or shortening.

Immediate surgery is required after the birth of the baby to relocate the abdominal organs that were born outside the body back behind the abdominal wall. However, after the repair many newborns with gastroschisis develop problems with feeding, digesting food and absorbing nutrients. The condition has an appearance similar to an omphalocele where the organs typically behind the abdominal wall protrude through a hole in the right side of the belly button. However, an omphalocele is covered with a membrane whereas gastroschisis has no membrane covering, which exposes the intestines and other organs to amniotic fluid.

Who Is at Risk for Gastroschisis?

Statistics maintained by the CDC (Centers for Disease Control and Prevention) estimates that nearly 1900 babies in the U.S. are born each year with gastroschisis. Most are thought to develop the condition because of an abnormal change in their chromosomes or cellular genetic makeup.

Scientists and researchers have yet to determine exactly what causes gastroschisis. However, it is believed to be associated with young maternal age because the condition rarely occurs in childbearing mothers who are 30 years or older. Doctors do know that the condition is not related to any action the mother took or substances in food consumed when they were pregnant.

If the defect is detected when the fetus is still the womb, a doctor can often accurately determine its severity by information gathered from the results of various tests. The information used to make that determination should include:

  • The kind of defects with distinguishing features that are different from other problems that appear to be similar, like an omphalocele defect

  • The severity of the birth defect that could range from mild to severe

  • Associated defects that might involve a syndrome or other significant problem

The obstetrician may also perform an amniocentesis chromosome test, a routine sonography or maternal serum screening to accurately diagnosed the condition and rule out other problems including omphalocele. It is important to note that the test does not always provide accurate information on the severity of the damage caused to the baby’s bowel that can be exposed to the amniotic fluid.

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Common Gastroschisis Symptoms

Most cases of gastro poster identified by the obstetrician or other health care provider prior to the baby being born. Prenatal ultrasounds can sometimes identify damage to the intestines exposed to amniotic fluid. Otherwise, the doctor will recommend special monitoring to ensure the unborn fetus remains healthy prior to its birth.

Babies born with gastroschisis typically have no other birth defects when born. Generally, it is not associated with other chromosome disorders and abnormalities. In fact, only 2 to 4 out of every 10 babies born with gastroschisis have some other type of gastrointestinal abnormality. These include:

  • The bowel formed an incorrect position (malrotation)

  • The bowel passage has become blocked (atresia)

  • The bowel is twisted and cut off blood supply (volvulus)

  • The bowel blood supply is cut off causing damage to the affected area (infarction)

Newborns with gastroschisis are at an increased potential risk of being stillborn, which affects approximately 10 out of every 100 cases.

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Diagnosing Gastroschisis

Diagnosing gastroschisis while the mother is pregnant requires prenatal tests (screening tests) to look for any condition including a birth defect. A serum or blood screening test might also identify the abnormality that could be visible during an ultrasound or moving images of the unborn body as viewed on a screen. Alternatively, gastroschisis is identified immediately once the baby is born.

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Treating Gastroschisis

Immediately after the baby is born, the doctor will recommend a surgical procedure to relocate the organs that protrude through the abdominal wall back into the abdomen cavity. After that is done, the surgeon will repair the defect.

In severe cases, the repair might be performed in stages if too many organs have protruded through the belly. This is because some exposed body organs might have a special material covering and move slower through the hole into the abdomen, unlike the intestines.

Babies who were born with gastroschisis often require other treatments including receiving antibiotic IV injections to prevent infections along with intravenous fed nutrients. Follow-up medical attention can identify a fever that is usually caused by an infection.

Possible Complications

If the doctor misplaces the abdominal organs during a surgical repair, the mistake can make it difficult for the newborn to expand his or her lungs, which could cause significant bleeding issues. Some babies experience bowel death when the intestinal tissue dies because of an infection or low blood flow.

The condition is clearly visible when the child is born and is detected in hospital settings during labor and delivery. Often, the condition is identified during pregnancy using fetal ultrasound examinations. However, if the mother gives birth to the child at home who appears to have developed the defect, it is essential to seek out emergency medical attention right away.

When to Contact the Doctor

If the doctor has repaired the birth defect and sent the baby home, the child could develop serious symptoms associated with the treatment outcome. This includes:

  • Decreasing bowel movements

  • Fever

  • Feeding issues

  • Swollen belly area

  • Worrisome changes in their behavior

  • Vomiting other than typical baby spit up

  • Yellow-green or green vomit

Any one of these symptoms could indicate serious problems that require immediate medical attention.

Prognosis (Outlook)

If the baby is born with gastroschisis has a large abdominal cavity, the baby has an optimal chance of a full recovery. However, repairing the problem in a very small abdominal cavity tends to create serious complications that can necessitate a series of surgeries to ensure a successful outcome.

If the defect has been identified before the child was born, careful planning should be made to ensure a safe delivery and immediate attention to the problem after the child was born. Delivery of the child should occur in a qualified medical center that has experience in repairing childbirth defects of the abdominal wall. This is because the newborn will likely recover better from the repair(s) if they can remain in the same center to receive further treatment.

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Sources:

https://www.cdc.gov/ncbddd/birthdefects/gastroschisis.html

http://www.mayoclinic.org/healthy-lifestyle/pregnancy-week-by-week/multimedia/fetal-ultrasound/sls-20076294

https://www.ncbi.nlm.nih.gov/pubmed/15937815

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