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What is this test?

The 3-Hydroxybutyrylcarnitine (C4-OH) test measures the amount of a specific molecule called C4-OH in the amniotic fluid that surrounds the baby during pregnancy. C4-OH is an acylcarnitine compound that the body produces when breaking down fats for energy. This test is part of prenatal metabolic screening to check if the unborn baby may have certain inherited metabolic disorders.

Why is this test performed?

This test is typically performed during pregnancy when there is a family history of metabolic disorders, or when routine prenatal screening suggests a potential problem. It helps doctors detect conditions such as medium-chain acyl-CoA dehydrogenase deficiency (MCAD), beta-oxidation defects, and other organic acidemias early, allowing for better planning of prenatal care and immediate treatment after birth.

How is the sample collected?

The sample is collected through a procedure called amniocentesis. A thin needle is inserted through the abdomen into the uterus to withdraw a small amount of amniotic fluid. This procedure is performed under ultrasound guidance to ensure safety. The fluid is then sent to a laboratory for analysis.

What do the results mean?

Normal levels of C4-OH in amniotic fluid suggest the baby likely does not have the metabolic disorders this test screens for. Elevated levels may indicate the presence of a fatty acid oxidation disorder or organic acidemia. However, abnormal results typically require additional confirmatory testing, and your healthcare provider will discuss the implications and next steps with you.