In most cases, congenital liver defects that affect the flow of bile are diagnosed at birth or soon after. Your child’s healthcare provider will take a full health history and do a physical exam. Your child may also have tests. These include:
Lab tests (blood, urine, and stool).
Liver enzyme tests . Special blood tests to check if the liver is red or swollen (inflamed).
Liver function tests. Special blood tests to see if the liver is working the way it should.
Genetic tests. Tests that look for certain traits, diseases, or being susceptible to a disease that may result in descendants having the disease or condition. Genetic tests include prenatal genetic testing.
Liver biopsy. Tissue samples from the liver are removed (with a needle or during surgery) and checked under a microscope.
CT scan. This is an imaging test that uses X-rays and a computer to make detailed images of the body. A CT scan shows details of the bones, muscles, fat, and organs. CT scans are more detailed than general X-rays.
Ultrasound. This imaging test uses high-frequency sound waves and a computer. It creates images of blood vessels, tissues, and organs. It is used to see internal abdominal organs such as the liver, spleen, and kidneys. An ultrasound can check blood flow through different vessels.
MRI . This imaging test uses a combination of large magnets, radio frequencies, and a computer. It makes detailed images of organs and structures in the body. MRCP (magnetic resonance cholangiopancreatography) is a special type of MRI that takes pictures of the bile duct and internal organs.