Both omphalocele and gastroschisis are rare types of abdominal wall birth defects.
Omphalocele (exomphalos) is a birth defect in which an infant’s intestines, liver, or other organs protrude outside the abdomen through the belly button. The organs are covered in a thin, nearly transparent sac that is usually not open or broken. An omphalocele often occurs along with other birth defects (such as heart defects and kidney defects) and some genetic syndromes (such as Down syndrome, trisomy 18, trisomy 13, and Beckwith-Wiedemann syndrome).
In gastroschisis, a baby’s intestines protrude outside a baby’s abdomen through an opening near the belly button, but they are not covered by a protective membrane. Because the intestines are not covered by a sac, they can be damaged by exposure to amniotic fluid in utero, which causes inflammation and irritation of the intestine that can result in complications such as problems with movements of the digestive system, scar tissue, and intestinal obstruction.
Omphalocele would be considered worse than gastroschisis, as it has more associated anomalies and a higher mortality rate than gastroschisis.
What Are Symptoms of Omphalocele and Gastroschisis?
Symptoms of omphalocele and gastroschisis involve a baby’s organs protruding through a hole in the abdominal wall.
In omphalocele, the hole in the abdominal wall is through the belly button. The intestines, liver, or other organs may be outside the abdomen, and the organs are covered in a transparent sac.
In gastroschisis, only the baby’s intestines protrude through an opening near the belly button and they are not covered by a protective membrane.
What Causes Omphalocele and Gastroschisis?
Most causes of omphalocele and gastroschisis in infants are unknown.
Causes of omphalocele and gastroschisis may include:
- Changes in the baby’s genes or chromosomes
- A combination of genes and other factors, such as things the mother comes into contact within the environment or what the mother eats or drinks, or certain medicines the mother uses during pregnancy
Risk factors for having a baby with an omphalocele and/or gastroschisis include:
- Alcohol consumption
- Mothers who consumed alcohol were more likely to have a baby with omphalocele or gastroschisis
- Tobacco use
- Mothers who were heavy smokers (more than one pack/day) were more likely to have a baby with omphalocele or gastroschisis
- Antidepressant use
- Mothers who used selective serotonin-reuptake inhibitor (SSRI) antidepressants during pregnancy were more likely to have a baby with an omphalocele
- Obesity
- Mothers who were obese or overweight before pregnancy were more likely to have a baby with an omphalocele
- Younger age
- Teenage mothers were more likely to have a baby with gastroschisis than older mothers
How Are Omphalocele and Gastroschisis Diagnosed?
Both omphalocele and gastroschisis are usually diagnosed prenatally with:
- Prenatal ultrasonography
- Blood tests
If prenatal ultrasound does not detect these defects, they are apparent upon birth.
What Is the Treatment for Omphalocele and Gastroschisis?
Treatment for both omphalocele and gastroschisis involves surgery.
After the baby is born, the exposed intestines are covered with a sterile dressing to keep them moist and protected. The digestive fluid that collects in the stomach is drained, and the intestines and other organs are put into their proper places and the opening is closed.
What Are Complications of Omphalocele and Gastroschisis?
Complications of omphalocele may include:
- The abdominal cavity may not grow to its normal size
- Infection
- An organ could become pinched or twisted, resulting in loss of blood flow that can damage the organ
Complications of gastroschisis may include problems with:
- Nursing and eating
- Digestion of food
- Absorption of nutrients
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