A birth defect can occur anywhere along the digestive tract—in the esophagus, stomach, small intestine, large intestine, rectum, or anus.
The digestive organs may be incompletely developed or abnormally positioned, causing blockages, or the muscles or nerves of the digestive tract may be defective.
Symptoms depend on the location of the defect but may include crampy abdominal pain, abdominal swelling, and vomiting.
The diagnosis usually is based on imaging tests and other tests.
Surgery usually is required.
Birth defects along the digestive tract can include the following:
Abdominal wall defects (including omphalocele and gastroschisis)
Biliary atresia (a birth defect involving the bile ducts, which are located outside the digestive tract but help with digestion)
In many cases, an organ is not fully developed or is abnormally positioned, which often causes narrowing or blockage (obstruction). Blockages can be present almost anywhere along the digestive tract, including in the esophagus, intestines, rectum, or anus. Sometimes a segment of the digestive tract does not form or develop normally or forms and then is destroyed by a problem that occurs in the womb before birth. The internal or external muscles surrounding the abdominal cavity may weaken or develop holes, as is the case with abdominal wall defects and diaphragmatic hernia. The nerves to the intestines may also fail to develop, as is the case with Hirschsprung disease.
Symptoms of Digestive Tract Birth Defects
Symptoms depend on what the birth defect is and where it is located. Infants may have crampy abdominal pain, abdominal swelling, and/or vomiting. Problems with feeding can occur and infants may fail to gain weight normally. Some infants develop a yellowish discoloration of the skin called jaundice.
Diagnosis of Digestive Tract Birth Defects
Imaging tests (x-rays and ultrasonography)
Imaging tests are usually required to diagnose a digestive tract birth defect. In some cases, defects can be detected before birth during routine prenatal ultrasonography. After birth, some defects are diagnosed with x-rays of the chest or abdomen. Ultrasonography may also be done after birth to identify and locate defects.
Other testing may include blood tests and biopsies. During a biopsy, a piece of tissue is removed for examination under a microscope.
Other tests, such as genetic testing, may be done depending on the test results and symptoms.
Treatment of Digestive Tract Birth Defects
Surgery
Most digestive tract defects require surgery. Typically, blockages are surgically opened. Weakenings or holes in the muscles surrounding the abdominal cavity are surgically repaired.
