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 Abdominal Wall Defects (Omphalocele and Gastroschisis) In abdominal wall defects, the muscles surrounding the abdominal cavity are weak or develop holes, allowing the intestines to spill out. The two main abdominal wall defects are omphalocele and... read more (including omphalocele and gastroschisis)
Biliary atresia Biliary Atresia Biliary atresia is a birth defect in which the bile ducts progressively narrow and become blocked after birth, preventing bile from reaching the intestine. This defect causes bile to collect... read more (a birth defect involving the bile ducts Gallbladder and Biliary Tract The gallbladder is a small, pear-shaped, muscular storage sac that holds bile and is interconnected to the liver by ducts known as the biliary tract. (See also Overview of the Liver and Gallbladder... read more , which are located outside the digestive tract but help with digestion)
Esophageal atresia and tracheoesophageal fistula Esophageal Atresia and Tracheoesophageal Fistula Esophageal atresia is a birth defect in which the esophagus narrows or comes to an end. Most newborns with esophageal atresia also have an abnormal connection between the esophagus and the windpipe... read more
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 Jaundice in the Newborn Jaundice is a yellow color to the skin and/or eyes caused by an increase in bilirubin in the bloodstream. Bilirubin is a yellow substance formed when hemoglobin (the part of red blood cells... read more .
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 Ultrasonography Prenatal diagnostic testing involves testing the fetus before birth (prenatally) to determine whether the fetus has certain abnormalities, including certain hereditary or spontaneous genetic... read more . After birth, some defects are diagnosed with x-rays X-Rays X-rays are a type of medical imaging that use very low-dose radiation waves to take pictures of bones and soft tissues. X-rays may be used alone (conventional x-ray imaging) or combined with... read more of the chest or abdomen. Ultrasonography Ultrasonography Ultrasonography is a type of medical imaging that uses high-frequency sound (ultrasound) waves to produce images of internal organs and other tissues. During an ultrasound, a device called a... read more 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
Most digestive tract defects require surgery. Typically, blockages are surgically opened. Weakenings or holes in the muscles surrounding the abdominal cavity are surgically repaired.