An omphalocele, a rupture at the base of the umbilical cord, occurs intrauterine and occurs as a congenital malformation in newborns. Individual organs are located in front of the abdomen and are surrounded by an omphalocele sac. There is a risk of rupture.
What is an omphalocele?
A rupture of the base of the umbilical cord, which occurs as a congenital malformation in newborns, is referred to as an omphalocele or exomphalos . This leads to a physiological relocation of some abdominal organs, such as the liver, spleen, intestines or the internal genitals, to the outside: The organs lie in front of the abdominal wall, surrounded by a membrane-like omphalocele sac, which consists of the membrane of the amniotic sac, Wharton jelly and peritoneum. See acronymmonster for Definition of Throat Cancer in English.
The prenatal (before birth) hernia of the base of the umbilical cord, the emergence of intestines from the abdominal cavity, denotes an umbilical ring defect: the physiological umbilical hernia is not or only insufficiently regressed at the end of the third month of pregnancy and development. Organs remain in the extraembryonic coelloma (coelom).
The cause is the lack of adhesion between the lateral parts of the abdominal wall of the embryo. Congenital abdominal wall defect of variable size occurs in one in five thousand newborns. Statistically, boys are more affected than girls.
An omphalocele is not hereditary. The causes are unclear. About four out of ten children affected by an omphalocele have other malformations of the kidneys, heart, intestines or liver. It can be associated with trisomy 13 (Pätau syndrome), trisomy 16 (most common chromosomal cause of spontaneous miscarriages) and trisomy 18 (Edwards syndrome), Cantrell syndrome, Fraser syndrome, Beckwith-Wiedemann syndrome and triploidy develop an omphalocele. Increased maternal age is generally a risk factor. If one child is affected, this does not have to apply to other children of the same parents.
Symptoms, Ailments & Signs
Prenatal (before birth) ultrasound shows the first signs. The omphalocele is already visible during birth as a sack-shaped 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 outsourcing of certain abdominal organs.
Other diseases and malformations can burden the embryo or the newborn and thus have a significant impact on the entire clinical picture. About thirty to seventy percent of the affected children have further damage. This particularly affects the intestines, kidneys and heart. Life-threatening complications can occur during childbirth and in the postnatal period.
Diagnosis & course of disease
An omphalocele and possible side effects can be diagnosed prenatally from the 12th week of pregnancy, before birth, very well by sonography (ultrasound). Echocardiography (a sonography of the heart) can detect abnormalities in the heart, which in this case are related to the omphalocele. After birth, a break in the base of the umbilical cord is clearly visible.
An amniocentesis, the examination of the amniotic fluid, follows for further determination. During a puncture of the amniotic sac, a minimally invasive procedure under ultrasound control, 10 to 20 ml of amniotic fluid are removed. The child’s cells contained in the amniotic fluid and the cells of the amniotic fluid sac (the amnion) are cultivated in the laboratory.
The subsequent DNA and chromosome analysis provides information about genetic aberrations, disorders of the central nervous system and some hereditary diseases. In this way, the environment surrounding the omphalocele can be clarified to a large extent prenatally.
Up to the 20th week of pregnancy, ultrasound examinations are recommended at four-week intervals, from then on at two-week intervals, and weekly from the 30th week of pregnancy. With the growth of the organs and changes in the intestinal wall, problems can arise in late pregnancy.
Immediately after birth, the newborn undergoes a comprehensive physical and detailed diagnostic examination. This makes it possible to detect secondary diseases in good time and to be able to start the appropriate therapies promptly.
An omphalocele does not heal by itself, since the hernial orifice does not close by itself, and the external organs do not find their place by themselves. There is a risk of life-threatening entrapment of organs. A rupture, a tearing of the sac-shaped expansion, can also occur. An untreated omphalocele leads to significant complications and ultimately to death.
In the worst case, this disease can lead to the death of the child. For this reason, the disease must be diagnosed very early and also treated. Self-healing usually does not occur without treatment. However, the disease can be diagnosed with regular examinations using ultrasound, so that early treatment is usually possible.
As a rule, the internal organs of the child are damaged as a result of illness. This damage has a very negative effect on the health of the child and can even lead to death in the worst case. The heart, kidneys and intestines are particularly affected. As a rule, an operation is necessary immediately after birth. After this procedure, possible inflammation and infection are prevented with the help of antibiotics.
There are usually no particular complications and in most cases the disease progresses positively. Complications only occur if the treatment of this disease is not initiated. The internal organs can die off completely. Even after successful treatment, there are usually no particular complications or other symptoms.
When should you go to the doctor?
If there is a suspicion of an umbilical cord rupture, the gynecologist should be consulted immediately. An omphalocele can generally be treated well after the doctor has determined the severity of the fracture. Mothers-to-be who notice unusual behavior in the child or other abnormalities are best advised to speak to the gynaecologist. If similar problems have already occurred during pregnancy or in previous pregnancies, there is a special need for action. In addition, possible causes must be identified and eliminated. If the umbilical cord rupture occurs in the first few months of pregnancy, other specialists may need to be consulted.
The omphalocele often has to be treated surgically. The patient must be treated as an inpatient and then remain in the hospital for a few days or weeks. Due to the severity of the complications that can accompany an umbilical cord rupture, medical advice is always required. After an omphalocele, the patient must visit the gynecologist regularly, who can determine any complications by means of an ultrasound examination and take further measures if necessary. An outwardly curved abdominal wall is a clear indication of an umbilical cord rupture. Anyone who notices this should call an ambulance immediately.
Treatment & Therapy
The therapy is usually surgical. The organs located in the hernial sac are relocated to the abdominal cavity. This will be closed. Immediately after birth, the omphalocele is covered in a sterile manner. A venous line is established to administer electrolytes and antibiotics. The newborn is fed through a feeding tube. The child is cared for in the incubator.
Depending on the proportions of the abdomen and the omphalocele, several operations may be necessary. First, a partial reduction is performed with synthetic interpositions. The interpositions are only removed after the abdominal walls have grown, and all organs are finally relocated into the abdomen and the closure is performed. This procedure avoids an excessive increase in intra-abdominal pressure, which can lead to damage and necrosis, the death of organs.
The options for conservative therapy are extremely limited. If an operation is not possible due to other diseases or is rigorously refused, substances with a bactericidal effect can be applied to the omphalocele. These solutions can cause secondary damage. There is also a risk of rupture (bursting open).
Outlook & Forecast
Most children develop very well after surgical treatment of an omphalocele. Medical care in special centers is crucial. However, very large abdominal wall defects can result in a longer hospital stay in the neonatal period.
The survival rate is over 90 percent if the baby has an isolated omphalocele without other malformations. If chromosomal anomalies or malformations of other organ systems are found, the survival rate drops to around 70 percent. As a rule, an affected child is connected to a pediatric surgery consultation after discharge from the hospital. In follow-up care, increased attention is paid to gaining weight and height, since children with omphalocele are more likely to show developmental delays.
Affected infants may also be more susceptible to other disorders. There is an increased risk of reflux (backflow of acidic stomach contents into the esophagus). An intestinal blockage can still occur years after an operation due to adhesions in the abdomen. This medical emergency is very rare. In the case of abdominal pain, however, this should be considered in order to be able to initiate rapid therapy if necessary.
The risk of having a child with an omphalocele again if the mother becomes pregnant again is 1 percent (one in 100 children) provided the infant with omphalocele has no other abnormalities.
There are no direct preventive measures. If the mother is older, appropriate check-ups should be carried out in good time. Prenatal diagnostics can rule out or detect trisomies and other genetic damage. However, the omphalocele itself is not primarily genetic.
The duration of all follow-up measures depends on the severity and the course. Since every child reacts differently, an exact prognosis is not possible. After the complete surgical treatment of the omphalocele, the child remains in the nursery. Now the diet begins. At first the digestive organs are not able to do their normal work.
In order to relieve the organism, the required fluid is first administered intravenously. A gastric tube placed over the nostril also drains the digestive juices. These measures remain in place until the intestines are able to transport chyme and produce stool from it. Only then is the infant fed by mouth (enteral). The diet is successful when all of the food is consumed and there is steady weight gain.
The feeding tube is removed and the child can be discharged home. It can take several days to weeks to get used to the food. Close checks are then required. Postoperative appointments can be made with the pediatrician or in the pediatric surgery outpatient clinic. If everything goes well, the intervals are extended to monthly or annual checks. In the long term, children with omphalocele are not expected to experience any impairments.
You can do that yourself
The omphalocele is a serious defect that must first be treated by a doctor. Parents can do several things to support treatment. In order to improve the well-being of the child, dietary measures are initially recommended.
A gentle diet without too spicy or irritating foods prevents irritation of the gastrointestinal tract, which can be particularly irritated after an operation on the abdominal wall. The child is also not allowed to do any sports in the days following the operation. 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 the other private obligations suffering as a result. The specialist doctor responsible will show you how the child’s illness and professional tasks can be reconciled.
After completion of the treatment, regular follow-up examinations apply. All the parents have to do then is watch out for any unusual symptoms and let the doctor know. Normally, however, an omphalocele is easily treatable without the parents having to take any special measures.