Amniocentesis is a optional and accurate procedure used to diagnose certain birth defects in the second or third trimester of pregnancy. Amniocentesis is generally performed after 14 weeks of pregnancy and involves inserting a needle, under ultrasound guidance, through the mother’s abdomen and into the uterus. A small amount of amniotic fluid is then withdrawn. Fetal cells from the skin, bladder, and gastrointestinal tract are in the fluid and can be grown for chromosome analysis. Results of the testing are usually available within two weeks.

Amniocentesis can detect Down syndrome, other chromosome abnormalities and certain genetic conditions when a family history exists of such a disease. Amniocentesis also detects most open neural tube defects, such as spina bifida by measuring the amount of alpha fetoprotein (AFP) in the amniotic fluid. AFP is produced in the fetal liver and may leak into the amniotic fluid if the baby has an abnormal opening in the skin. The American College of Obstetricians and Gynecologists (ACOG) has recommended that amniocentesis now be offered to all pregnant women. However, in the past couples who have been offered amniocentesis include:

•  Women 35 years of age and over
•  Parents who have had a child with Down syndrome or other chromosome abnormality
•  Couples who are known carriers of a chromosome arrangement
•  Couples who have had a child with a malformation of the brain or spinal cord (spina bifida or anencephaly)
•  Couples who have a family history of a genetic condition for which testing is available
•  Pregnancies that are considered at an increased risk for chromosome abnormalities based on screening test

Amniocentesis is associated with risks that may include slight discomfort, adverse reaction to medications used, vaginal bleeding or cramping, infection, and loss of the pregnancy (miscarriage). These risks are estimated to occur in less than 1 in 300 procedures. ACOG has recently made a statement based on recent research indicating that the risks associated with the amniocentesis may be significantly less when performed by specially trained Maternal Fetal Medicine specialist such as our physicians.

Genetic counseling prior to the procedure is recommended so a couple can make an informed decision. During the counseling session the amniocentesis procedure will be described along with its potential risks and benefits.

Please click HERE for a diagram of an amniocentesis procedure.

Please click HERE for a Brochure on amniocentesis