What are the symptoms? Exomphalos The size of the exomphalos depends on the number of organs exposed. This is usually the bowel but may include the liver and other organs. The sac containing the exposed organs is usually covered in a protective membrane. Sometimes exomphalos occurs in conjunction with other problems such as chromosomal (gene) or heart defects. Gastroschisis In gastroschisis some of the bowel has escaped through a hole in the abdominal wall and develops outside of the baby’s abdomen. The bowel floats around in the amniotic fluid – this is a liquid that surrounds the unborn baby (fetus) – in the mother’s womb for most of the pregnancy and sometimes the fluid irritates the bowel and makes it inflamed and thick, so that it does not work properly. Sometimes the bowel becomes twisted as it floats in the fluid and the blood supply is restricted. When the baby is born, the bowel is exposed to the air which sometimes causes further inflammation to occur. What are the causes? Exomphalos can, in some circumstances, be associated with genetic abnormalities. It occurs across all maternal (mothers) ages. Gastroschisis is associated with young maternal age, with mothers under 20 years being twelve times more likely to have infants with gastroschisis. It is usually not associated with other abnormalities outside of the intestine. How is it diagnosed? Most babies with abdominal wall defects will be identified during pregnancy by fetal ultrasound. How is it treated? The parts exposed out of the baby’s abdomen are usually wrapped in surgical cling film, which helps prevent infection. Once the baby is stable, surgery can be performed. If there is only a small amount of bowel outside the abdomen, it will be returned to the baby’s abdomen and the wound closed. This is called a primary repair. Sometimes if the gastroschisis/exomphalos is large or if the abdominal cavity is small, a surgeon will construct a pouch in which the gastroschisis/exomphalos is placed. The pouch is then suspended from the ceiling of the incubator and gravity along with a reduction of the size of the pouch will help the gastroschisis/exomphalos to slip back inside the abdomen. This can usually be done in a week for gastroschisis, but may take considerably longer for exomphalos. Inheritance patterns and prenatal diagnosis Some genetic syndromes are associated with exomphalos (eg Beckwith-Wiedemann syndrome). Gastroschisis is virtually always an isolated abnormality with no pattern of inheritance. Prenatal diagnosis Diagnosis can be made by ultrasound scan during pregnancy. Is there support? Families can use Contact’s freephone helpline for advice, information and, where possible, links to other families.