Gastroschisis
Birth defect where intestines protrude through a hole near the navel.
Gastroschisis is a congenital condition where a baby’s intestines—and sometimes the stomach or liver—protrude through an opening in the abdominal wall, located beside the belly button. The opening varies in size. Possible complications include feeding difficulties, premature birth, a blockage in the intestine (intestinal atresia), and slowed growth before birth. The exact cause is usually unknown, but the condition is more common in babies whose mothers are under 20, smoke, or drink alcohol during pregnancy.
During pregnancy, there are no noticeable signs. About 60% of affected infants are born early. At birth, the hole in the abdominal wall is typically small (under 4 centimeters) and usually sits just to the right of the navel. The exposed organs have no protective membrane, which distinguishes gastroschisis from a similar defect called omphalocele. In rare cases, the liver and stomach also push through.
The condition arises during the fourth week of embryonic development, when the side walls of the body fail to fuse properly at the midline. This leaves a gap that allows abdominal organs to herniate, often through the rectus abdominis muscle to the right of the umbilicus. Scientists have proposed at least six theories for why this happens—such as problems with mesoderm formation, amnion rupture, or blood vessel disruptions—but none fully explain the defect’s specific location or why it occurs mostly on the right side.
In developed countries, about 90% of cases are detected through routine ultrasound, usually in the second trimester. Diagnosis can also happen at birth. Treatment requires surgery to return the protruding organs to the abdomen and close the hole. In about 10% of cases, this can be done in a single operation; more often, multiple surgeries are needed. For large defects, the exposed organs may be wrapped in a special material and gradually guided back into the body. Delivery is recommended at a hospital equipped to care for high-risk newborns, as transfers can increase risks. Cesarean delivery is not shown to improve outcomes and is only used if other medical reasons exist.
Recovery often takes time because the infant’s bowel function must return to normal. After surgery, babies receive fluids intravenously and are slowly introduced to regular feeding.
Quick Facts
- Pronounce
- ɡ · æ · ˈ · s · t · r · ɒ · s · k · ɪ · s · ɪ · s
- Field
- General surgery, medical genetics
- Symptoms
- Intestines extend outside of the body through a hole next to the belly button
- Complications
- Feeding problems, prematurity, intrauterine growth restriction
- Onset
- During early development
- Causes
- Unknown
- Risks
- Mother who smokes, drinks alcohol, or is younger than 20
- Diagnosis
- Ultrasound during pregnancy, based on symptom at birth
- Differential
- Omphalocele, prune belly syndrome
- Treatment
- Early surgery
- Frequency
- 4 per 10,000 births
Facts from the source article.
Lore & Background
Gastroschisis is a congenital condition that occurs during embryonic development. During the fourth week of human embryonic development, the lateral body wall folds of the embryo meet at the midline and fuse together to form the anterior body wall. In gastroschisis, this fusion fails to occur due to improper movement of one or both lateral body wall folds, resulting in a defect that allows abdominal organs to protrude through the abdominal wall, typically to the right of the umbilicus. At least six hypotheses have been proposed for the pathophysiology, including failure of mesoderm formation, rupture of the amnion, abnormal involution of the right umbilical vein, disruption of the right vitelline artery, abnormal folding of the body wall, and failure to incorporate yolk sac structures. None of these hypotheses have been conclusively proven, and more evidence is needed.
Reader's Guide
Gastroschisis is a significant birth defect because it requires urgent surgical treatment after birth to return exposed intestines to the abdominal cavity and close the hole. Without treatment, the condition is fatal; however, with adequate care, the survival rate for treated infants is 90%. The condition affects about 4 per 10,000 newborns, and rates appear to be increasing. Diagnosis is often made via ultrasound during pregnancy in the developed world, with about 90% of cases identified in the second trimester. Treatment typically involves surgery shortly after birth, though only about 10% of cases can be closed in a single surgery; many require multiple operations. The main cause for lengthy recovery is the time taken for bowel function to return to normal. Morbidity is strongly influenced by associated malformations, intestinal complications, and the frequent need for multiple operations. Neonatal mortality is higher in premature infants, those with two or more concurrent complications, and cases with a low Apgar score.
Did You Know?
- About 60% of infants with gastroschisis are born prematurely.
- The defect is usually a small hole (<4 cm) just to the right of the belly button.
- Gastroschisis differs from omphalocele in that there is no covering membrane over the intestines.
- As of 2017, the CDC estimates about 1,871 babies are born each year in the United States with gastroschisis.
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