An omphalocele, a hernia of the base of the umbilical cord, develops intrauterine and occurs as a congenital malformation in newborns. In this case, individual organs are anterior to the abdominal cavity and are enclosed by an omphalocele sac. There is a risk of rupture.
What is an omphalocele?
An omphalocele or exomphalos is the name given to a rupture of the base of the umbilical cord, which occurs as a congenital malformation in newborns. In this case, there is a physiological displacement of some abdominal organs, such as the liver, spleen, intestines or the internal genitalia, to the outside: the organs lie in front of the abdominal wall, enveloped by a membranous omphalocele sac, which consists of the egg membrane of the amniotic sac, Wharton’s sulcus and peritoneum. Antenatal (prenatal) hernia of the umbilical cord base, the leakage of viscera from the abdominal cavity, refers to an umbilical ring defect: the physiological umbilical hernia is not or insufficiently regressed at the end of the third month of gestation and development. Organs remain in the extraembryonic coelloma (celom). This is caused by the failure of adhesion between the lateral abdominal wall portions of the embryo. The congenital abdominal wall defect of varying size occurs in one in five thousand newborns. Boys are statistically more likely to be affected than girls.
Causes
An omphalocele is not hereditary. The causes are unclear. About four out of ten children affected by an omphalocele have other malformations of the kidney, heart, intestine, or liver. Omphalocele may occur in association with trisomy 13 (Pätau syndrome), trisomy 16 (the most common chromosomal cause of spontaneous miscarriage) and trisomy 18 (Edwards syndrome), Cantrell syndrome, Fraser syndrome, Beckwith-Wiedemann syndrome and triploidy. Increased maternal age is generally a risk factor. If one child is affected, this need not apply to other children of the same parents.
Symptoms, complaints, and signs
The first signs come from prenatal (before birth) ultrasound. Already during birth, the omphalocele becomes visible as a sac-like expansion in front of the actual abdominal wall. This can vary in size and contain different organs, such as the liver or parts of the intestine. The abdomen itself appears rather small due to the extra-abdominal location, the outpouching of certain abdominal organs. Other conditions and malformations can stress the embryo or newborn, respectively, significantly affecting the overall clinical picture. About thirty to seventy percent of affected children show further damage. This particularly affects the intestines, kidneys and heart. Life-threatening complications can occur during birth and postnatally.
Diagnosis and course of the disease
An omphalocele and possible accompanying symptoms can be diagnosed very well by sonography (ultrasound) from the 12th week of pregnancy prenatally, before birth. Echocardiography (a sonography of the heart) can detect malformations of the heart, which in this case are related to the omphalocele. After birth, a rupture of the base of the umbilical cord is clearly visible. Amniocentesis, the examination of the amniotic fluid, follows for further determination. During a puncture of the amniotic sac, a minimally invasive procedure under ultrasound guidance, 10 to 20 ml of amniotic fluid is collected. The fetal cells contained in the amniotic fluid and the cells of the amniotic sac (the amnion) are cultured in the laboratory. The subsequent DNA and chromosome analysis provides information about genetic maldevelopments, disorders of the central nervous system and some hereditary diseases. Thus, the environment of the omphalocele can be clarified to a large extent prenatally. For control purposes, ultrasound examinations are recommended at four-week intervals until the 20th week of pregnancy, from then on at two-week intervals, and weekly from the 30th week of pregnancy. With the growth of organs and intestinal wall changes may occur in late pregnancy. Immediately after birth, the newborn is given a comprehensive physical and fine diagnostic examination. This makes it possible to detect secondary diseases in time and to start appropriate therapies promptly. An omphalocele does not heal by itself, since the hernial orifice does not close by itself and the dislocated organs do not find their place by themselves. There is a risk of life-threatening entrapment of organs.In addition, rupture, a tearing of the saccular dilatation, may occur. An untreated omphalocele leads to significant complications and ultimately death.
Complications
In the worst case scenario, this disease can lead to the death of the child. For this reason, the disease must be diagnosed very early and continue to be treated. Self-cure usually does not occur in this case without treatment. However, the disease can be diagnosed during regular examinations with the help of ultrasound, so that early treatment is usually possible. As a rule, the child’s internal organs are damaged due to the disease. This damage has a very negative effect on the health of the child and in the worst case can even lead to death. The heart, kidneys and intestines are particularly affected. As a rule, a surgical intervention is necessary immediately after birth. After this operation, possible inflammations and infections are prevented with the help of antibiotics. There are usually no particular complications and in most cases the course of the disease is positive. Complications occur only if the treatment of this disease is not initiated. In this case, the internal organs may die completely. Even after successful treatment, there are usually no particular complications or other complaints.
When should you go to the doctor?
If an umbilical cord hernia is suspected, the gynecologist should be consulted immediately. An omphalocele can generally be treated well after the physician has determined the severity of the hernia. Expectant mothers who notice unusual behavior in the baby or notice other abnormalities are best to talk to the gynecologist. If similar problems have already occurred during the pregnancy or in previous pregnancies, special action is required. In addition, possible causes must be determined and remedied. If the umbilical cord hernia occurs in the first months of pregnancy, other specialists may need to be consulted. For example, the omphalocele often requires surgical treatment. The patient must be treated as an inpatient for this and then remain in the hospital for several days to weeks. Because of the severity of the complications that can accompany an umbilical cord rupture, medical advice is always sought. After an omphalocele, the patient must regularly visit the gynecologist, who can detect any complications by ultrasound examination and take further measures if necessary. An outwardly bulging abdominal wall is a clear indication of an umbilical cord hernia. Anyone who notices this should call an emergency physician immediately.
Treatment and therapy
Treatment is usually surgical. The organs located in the hernia sac are moved to the abdominal cavity. This is closed. Immediately after birth, the omphalocele is covered sterilely. Venous access for administration of electrolytes and antibiotics is established. The newborn is fed through a gastric tube. The child is cared for in an incubator. Depending on the proportion, of the abdomen as well as the omphalocele, several operations may be necessary. First, a partial reduction with synthetic interpositions is performed. Only after the abdominal wall has grown, the interponates are removed, all organs are finally moved into the abdominal cavity and the closure is performed. This procedure avoids excessive increase of intra-abdominal pressure, which can lead to damage and necrosis, death, of organs. The options for conservative therapy are extremely limited. If surgery is not possible due to other conditions or is rigorously refused, substances with a bactericidal effect can be applied to the omphalocele. These solutions can lead to secondary damage. In addition, there is a risk of rupture (bursting).
Outlook and prognosis
Most children do very well after surgical treatment of an omphalocele. Medical care in specialized centers is crucial. However, very large abdominal wall defects may result in prolonged hospitalization in the neonatal period. The survival rate is over 90 percent provided the baby has an isolated omphalocele without other malformations. If chromosomal abnormalities or malformations of other organ systems are found, the survival rate drops to about 70 percent.As a rule, an affected child is connected to a pediatric surgical consultation after discharge from the hospital. During follow-up, increased attention is paid to weight and height gain, as children with omphalocele are more likely to show developmental delay. Affected infants may also be more susceptible to other conditions. There is an increased risk of reflux (reflux of acidic stomach contents into the esophagus). Intestinal obstruction can occur years after surgery due to adhesions in the abdomen. This medical emergency occurs very rarely. However, if abdominal pain occurs, it should be remembered so that rapid therapy can be initiated if necessary. The recurrence risk for the birth of a child with an omphalocele if the mother becomes pregnant again is 1 percent (one in 100 children), provided the infant with an omphalocele has no other malformations.
Prevention
There are no direct preventive measures. If the mother is of advanced age, appropriate screening should be performed in a timely manner. Prenatal diagnostics can exclude or detect trisomies and other genetic damage. However, omphalocele itself is not primarily genetic.
Follow-up
The duration of all follow-up care depends on the severity and course. Because each child responds differently, an accurate prognosis is not possible. After complete surgical repair of the omphalocele, the child remains in the nursery. Now the food build-up begins. In the first period, the digestive organs are not yet able to do their normal work. To relieve the organism, the required fluid is initially supplied intravenously. A stomach tube placed through the nostril additionally drains the digestive juices. These measures remain in place until the intestines are able to transport food pulp and produce stool from it. Only then is the infant fed by mouth (enteral). The feeding is successful when the food is fully drunk and there is a steady weight gain. The feeding tube is removed and the infant can be discharged home. The duration of the food habituation can be several days to weeks. Close monitoring is required thereafter. Postoperative appointments can be made with the pediatrician or in the pediatric surgical outpatient clinic. If progress is good, intervals are extended to monthly or annual checkups. In the long term, children with omphalocele have no adverse effects.
Here’s what you can do yourself
Omphalocele is a serious defect that must first be treated by a doctor. Parents can do several things to help with treatment. To improve the child’s well-being, dietary measures are the first thing to offer. A gentle diet without overly spicy or irritating foods prevents irritation of the gastrointestinal tract, which can be irritated, especially after surgery on the abdominal wall. Also, the child should not do any sports for the next few days after the surgery. Physical activity can be slowly increased in consultation with the doctor once the surgical wound has healed sufficiently. In the case of infants and small children, purely inpatient treatment is often necessary. In this case, the parents should spend as much time as possible with the child, but without sacrificing other private duties. The specialist in charge will show ways of reconciling the child’s illness and professional duties. After the treatment is completed, regular follow-up examinations apply. Afterwards, the parents only have to watch out for unusual symptoms and inform the doctor about them. Normally, however, an omphalocele is easily treatable without the parents having to take any special measures.
