Amniocentesis for Genetic Evaluation

Amniocentesis is a prenatal testing procedure generally performed during the second or third trimester of pregnancy.

Who gets amniocentesis?

Your doctor might recommend amniocentesis during pregnancy when:

• Ultrasound testing identifies a fetal abnormality.
• A prenatal screening tests is used to detect an increased risk for a chromosome disorder.
• Certain genetic disorders (like sickle cell illness or cystic fibrosis) run in your family or you test positive as a carrier of a genetic disorder.
• You're older than 35 at the time of delivery. This is because having a child with a chromosomal disorder is more common in people over the age of 35.

Procedure: During amniocentesis, a thin needle is placed through the mother's abdomen and into the amniotic sac. A small amount of amniotic fluid containing fetal cells is withdrawn. The collected fluid contains fetal DNA, which can be analyzed for genetic abnormalities.