Gastroschisis is a malformation of the child’s abdominal wall that develops while the child is still in the womb. Due to causes that are not yet clear, the abdominal wall splits and internal organs leak out. Therapy for the condition must be given immediately after birth.
What is gastroschisis?
Gastroschisis is an abdominal wall defect that occurs before birth (prenatally). The term comes from the Greek gastro = abdomen, stomach and s-chismà = cleft and is therefore called abdominal cleft. In gastroschisis, a cleft of about 2-3 cm forms in the abdominal wall of the fetus early in pregnancy, usually to the right of the umbilicus, through which internal organs leak out. In most cases, the intestine pushes through the abdominal opening and lies in the amniotic fluid. However, other organs, such as the liver or stomach, may also fall out of the abdomen through the cleft. Because the intestine then floats freely in the amniotic fluid and does not experience any limitations from the abdominal wall, it does not develop normally. The intestinal loops dilate and the organ becomes larger than it should be. In addition, the intestine may become twisted and, as a result, there may be circulatory problems that, in the worst case, cause tissue to die. Gastroschisis is rather rare, although an increase in incidence has been observed in recent years.
Causes
There is no clear explanation for the development of gastroschisis. Various theories exist. One explanation assumes that the right umbilical vein, a vessel that is present only at the beginning of pregnancy and later regresses, is responsible for the condition. The function of this vein is to nourish the abdominal wall. If it regresses too early, the abdominal wall is undersupplied, tissue dies and the defect develops. Since the growth of the intestine begins at about the same time, it pushes its way out of the body through the opening. This theory would also explain why gastroschisis usually occurs to the right of the umbilicus. Another theory assumes that the occlusion of an artery on the right side leads to a kind of tissue infarction and causes the cleft. A third theory assumes that a disorder causes vascular malformations and thus the abdominal wall does not close. Lastly, there exists the opinion that gastroschisis may result from a rupture of the membrane around the umbilical cord.
Symptoms, complaints and signs
Gastroschisis is manifested by an abdominal cleft that is noticed immediately during and after the birth of the baby. Parts of the intestine essentially emerge from this abdominal cleft. This can be parts of the large intestine as well as the small intestine. Before birth, gastroschisis can be detected by ultrasound. While the intestine is still protected before birth, severe and sometimes fatal complications occur afterwards. The loops of intestine located outside the abdomen are unprotected and therefore very susceptible to infection. The infections easily develop into peritonitis, which often takes a very serious course. Furthermore, a threatening intestinal inflammation can also develop, leading to the death of parts of the intestine. The external loops of the intestine also store fluid and therefore appear swollen. The formation of fibrin can also cause parts of the intestine to stick together. Eventually, intestinal obstruction may occur, in which large portions of the intestine die. Without treatment, gastroschisis in the newborn is fatal due to the complications mentioned above. However, the condition is easily treated surgically. The healing process may take several weeks or months. As a rule, however, gastroschisis heals completely. In some cases, however, there are accompanying malformations such as narrowing or atresia in the intestine that absolutely must also be treated.
Diagnosis and course
By means of ultrasound examination (sonography), gastroschisis can be detected with a high degree of certainty (90%) as early as the 16th week of pregnancy, sometimes even earlier. Sonography also provides a good indication of the size of the defect, how much of the intestine or which other organs have leaked from the abdomen. If gastroschisis is suspected by the ultrasound findings, amniocentesis is often performed for further clarification. An increased AFP value (AFP is a protein) in the amniotic fluid can be a further indication of the disease, but is not considered proof.Due to the defect in the abdominal wall, the internal organs, especially parts of the intestine, fall into the amniotic cavity and float freely in the amniotic fluid. The intestinal loops grow strongly due to lack of confinement and are swollen (edematous). If the intestine is twisted, it can lead to circulatory problems and thus to the death of intestinal tissue. In addition, the amniotic fluid is contaminated by the excretions of the fetus. In specialized clinics, in rare cases, if the concentration of waste is too high, amniotic fluid is replaced. Gastroschisis must be closely monitored during pregnancy. Both the maturity of the child and the extent of organ damage are always kept in mind.
Complications
Gastroschisis can cause death of the child in the worst case if the condition is not treated immediately after birth. In most cases, however, very early diagnosis is possible, so treatment can begin immediately after birth. This can prevent secondary damage and further complications. If the intestine is twisted, the intestinal tissue may die because it is no longer supplied with blood properly. Likewise, other organs can also be damaged. The damage depends strongly on the severity of the gastroschisis. As a rule, regular check-ups are necessary to monitor the damage on a permanent basis. In most cases, treatment involves surgical intervention. During this procedure, the intestine is turned back so that there are no complications and the tissue does not die. Likewise, if necessary, other damage to organs must be examined and also treated. In most cases, if the treatment is performed immediately after birth, the child will have a positive outcome. No further complications occur.
When should you go to the doctor?
Expectant mothers should always attend offered pregnancy checkups. Medical checkups can detect a variety of irregularities or diseases of the unborn child. In the second trimester, gastroschisis can already be reliably diagnosed by a gynecologist. Therefore, it is advisable to take advantage of the possibilities of ultrasound examinations from this time on. If an inpatient birth takes place, various examinations of mother and child are routinely performed immediately after delivery. Therefore, in most cases, intervention by the relatives is no longer necessary at this point. Often, a cesarean section is performed due to the detected gastroschisis, so that immediate medical care of the child takes place in the hospital. If an unscheduled home birth takes place, a physician should be called for a home visit or the emergency medical services should be notified while the baby is still being born. Even if the condition was not noticed during pregnancy, a doctor should always be consulted immediately after a home birth. In general, a pregnant woman should consult a doctor as soon as she has a vague feeling that something might be wrong with her growing child. Apart from attending check-ups, it is important to consult the doctor in case of perceived irregularities, a general feeling of illness or other abnormalities.
Treatment and therapy
The possibility of treating gastroschisis begins after birth. Most often, cesarean section (sectio) is advised, but practice has not clearly shown an advantage over normal vaginal delivery. The only possible treatment for the defect is surgical intervention, which should be performed promptly after birth, no later than 18 hours thereafter. Initial care consists of twisting back (derotating) any twisted bowel. The infant is placed on its side so that no vessels are pinched off. Furthermore, the infant’s body is wrapped in a sterile plastic wrap to prevent the external organs from drying out and to keep the infant warm. A feeding tube and venous access are placed to allow the body to receive medications and nutrition. During surgery, the organs are examined for tissue damage and, if possible, returned to the abdominal cavity. This surgery is called primary closure. However, if the organs are too large, they would not have enough room in the infant’s abdominal cavity.This would cause excessive pressure to develop, which in turn affects vessels and organs, causes circulatory problems and can affect the heart. In this case, a so-called multi-stage closure is performed. This involves placing the organs in a pouch over the abdominal wall defect. This pouch is gradually reduced in size, slowly pushing the organs into the abdominal cavity. Finally, the abdominal cavity is closed. This method prevents the excessive pressure increase.
Outlook and prognosis
If left untreated, gastroschisis results in an unfavorable course of the disease. Immediately after birth, patients must have adequate medical care initiated to ensure the survival of the affected individual. Although a diagnosis can be made in the womb and is done by amniocentesis, treatment can only take place after delivery. The malformation is corrected in a surgical procedure. This restores the functionality of the intestine. If the operation takes place without further complications, the patient is subsequently considered cured. Multiple check-ups are performed, especially in the first weeks and months of life. The intestinal activity as well as the blood circulation are clarified. If no complaints occur, no further measures are required. If there are complications or inflammations in the abdomen, the healing process is delayed. The infant will continue to be hospitalized in severe cases until the health condition is stable so that no equipment is needed. Tissue damage may occur or a feeding tube may be placed. Only in very rare cases is the organ damage severe enough to require further intervention. More likely is the use of a bag, which is used to position and move the organs to their destination.
Prevention
Preventive measures against gastroschisis do not exist. However, early diagnosis is important. This allows monitoring of the child’s development and the expression of the disease, which ultimately increases the success of postnatal treatment.
Follow-up
Gastroschisis cannot be treated by postnatal care measures. In this case, the affected person depends on direct and especially early treatment to avoid further discomfort or even death of the child. Therefore, the treatment of gastroschisis is usually performed immediately after birth. The child is operated on and the organs are brought back to the correct position. In most cases, there are no particular complications or other complaints if gastroschisis is recognized directly before birth. The affected parents must be given special support. Especially the care and support by friends and by the own family is very helpful and necessary. Especially psychotic support can be useful in this case. In severe cases or if the child dies due to gastroschisis, professional psychological counseling can also be sought. The child must rest after the procedure and should not be exposed to any special or strenuous activities. As a rule, regular examinations by a doctor are necessary even after the procedure. If the treatment of gastroschisis is successful, the life expectancy of the affected person is usually not reduced.
What you can do yourself
After surgery, regular checkups with the pediatrician are indicated. The medical professional will tell the parents the exact intervals and also inform them about reasons for extraordinary examinations. In general, children who have gastroschisis must be examined weekly during the first weeks and months to ensure clean wound healing and to detect any complications early. Further hygiene measures are required when handling the child. For example, all utensils (e.g., bottles and dishes) and clothing should be boiled after use. The surgical wound itself must be treated according to the pediatrician’s instructions. Parents are also advised to seek professional advice from a specialist in early childhood malformations. Comprehensive discussions can help to better understand the condition and ultimately make it easier to deal with.If the gastroschisis causes problems later in life and, for example, causes functional disorders of the gastrointestinal tract, a doctor must be consulted. Later, the child must be informed about the malformation, as he or she will ask questions anyway due to the visible scars. In some circumstances, an accompanying consultation with the physician or a therapist is useful.
