Karyotype analysis of total fetal cells from amniotic fluid

Why is this test done?

Your healthcare provider may recommend this test if you’re at higher risk for chromosomal disorders, such as due to advanced maternal age, family history of genetic conditions, or other medical concerns. It’s also sometimes performed as part of a prenatal screening or diagnostic evaluation when other tests suggest a possible issue.

What does the test involve?

A small amount of amniotic fluid is collected through a procedure called an amniocentesis. The fluid contains fetal cells, which are then cultured and analyzed under a microscope to examine their chromosomes. Results can take several weeks to process.

What does the test measure?

The test looks at the number and structure of chromosomes in fetal cells. Abnormalities, such as missing or extra chromosomes (e.g., Down syndrome, Turner syndrome, or Patau syndrome), may be detected.

What are the possible results?

Results can be normal (no genetic issues detected), abnormal (indicating a chromosomal disorder), or inconclusive (if not enough cells were analyzed or the test was incomplete). Follow-up testing or additional evaluation may be recommended based on the findings.