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A procedure that removes a small sample of cells from the amniotic fluid surrounding a fetus to test for certain conditions.

Use in clinical context

Some genetic conditions, including Down syndrome, sickle cell disease and Duchenne muscular dystrophy, can be diagnosed by testing a fetus during pregnancy. Amniocentesis is one of a number of ways that DNA for these tests can be obtained.

The cells that provide the DNA are sampled from the amniotic fluid, which is part of the pregnancy, and not the mother. For this reason, they have the same genome as the fetus (with some exceptions where a variant may have arisen in the sampled cells but not the fetus, or vice versa).

This procedure carries a risk of miscarriage and the information about this should be communicated to the parent/s. The decision to undergo the procedure is always an individual one and many factors are usually considered by the parent/s before making the decision to undergo the procedure or not.

Last updated on 15th November, 2021