Diagnosis of Biliary Atresia

How do doctors diagnose biliary atresia?

To diagnose biliary atresia, a doctor will ask about your infant’s medical and family history, perform a physical exam, and order a series of tests. Experts recommend testing for biliary atresia and other health problems in infants who still have jaundice 3 weeks after birth.

If test results suggest that an infant is likely to have biliary atresia, the next step is surgery to confirm the diagnosis.

Doctors may refer children with suspected biliary atresia to specialists, such as pediatric gastroenterologists, pediatric hepatologists, or pediatric surgeons.

Family and Medical history

The doctor will ask about your infant’s family and medical history. The doctor will also ask about symptoms such as jaundice and changes in stool color.

Physical exam

During a physical exam, the doctor may

  • examine the infant’s body for signs of jaundice
  • examine the infant’s body for other birth defects that sometimes occur along with biliary atresia
  • feel the infant’s abdomen to check for an enlarged liver or spleen, which may be signs of biliary atresia
  • check the color of the infant’s stool and urine
Mother holding an infant while a doctor performs a physical exam
During a physical exam, the doctor may examine the infant’s body for signs of jaundice.

What tests do doctors use to diagnose biliary atresia?

Doctors may order some or all of the following tests to diagnose biliary atresia and rule out other health problems. Doctors may perform several tests because many other diseases can cause signs that are like the signs of biliary atresia.

Blood tests

A health care professional may take a blood sample from the infant and send the sample to a lab. Doctors may use blood tests to measure bilirubin levels and to check for signs of liver disease.

Ultrasound

Ultrasound uses a device called a transducer, which bounces safe, painless sound waves off organs to create images of their structure. Using ultrasound, doctors can rule out other health problems and look for signs that suggest an infant may have biliary atresia. However, an ultrasound cannot confirm a diagnosis of biliary atresia.

Hepatobiliary scan

A hepatobiliary scan is an imaging test that uses a small amount of safe radioactive material to create an image of the liver and bile ducts. The test can show if and where bile flow is blocked.

Liver biopsy

During a liver biopsy, a doctor will take pieces of tissue from the liver. A pathologist will examine the tissue under a microscope to look for signs of damage or disease. A liver biopsy can show whether an infant is likely to have biliary atresia. A biopsy can also help rule out or identify other liver problems.

How do doctors perform surgery to confirm the diagnosis of biliary atresia?

During diagnostic surgery, a pediatric surgeon makes a cut in the infant’s abdomen to directly examine the liver and bile ducts. Alternatively, surgeons may use a device called a laparoscope, which is inserted through a small incision and does not require the abdomen to be opened. If the surgeon confirms that the infant has biliary atresia, the surgeon will usually perform surgery to treat biliary atresia right away.

September 2017
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This content is provided as a service of the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), part of the National Institutes of Health. The NIDDK translates and disseminates research findings through its clearinghouses and education programs to increase knowledge and understanding about health and disease among patients, health professionals, and the public. Content produced by the NIDDK is carefully reviewed by NIDDK scientists and other experts.

The NIDDK would like to thank:
Benjamin L. Shneider, M.D., Baylor College of Medicine, Texas Children’s Hospital