Amniocentesis

Amniocentesis Procedure

Amniocentesis is a diagnostic prenatal test that provides information about your baby's health from a sample of your amniotic fluid. The test examines the fluid and determines if specific genetic disorders are present in your baby. The test is often recommended for pregnancy at a higher risk for genetic disease, including follow up from high risk screening results (NIPS, Carrier Screening, etc.).

The amniocentesis test involves extracting a small sample of the amniotic fluid. Using ultrasound guidance, a fine needle is inserted into the amniotic sac in the uterus. The procedure takes just a few minutes to perform, and most people report that it is painless, although others may experience cramping or pressure within the uterus.

After the procedure, patients should relax for the remainder of the day. If the patient is uncomfortable, they may ask the doctor for medication to relieve discomfort. Patients usually resume their normal activities the following day, unless otherwise directed by their doctor.

This test is usually performed between the 15th and 20th weeks of pregnancy.

Conditions Tested

• Chromosomal Abnormalities (Down Syndrome, Trisomy 13, Trisomy 18, Turner Syndrome, Klinefelter Syndrome, etc)

• Single Gene Disorders (Tay Sachs, Sickle Cell, Cystic Fibrosis, Non-Syndrome Hearing Loss, etc.)

• Microdeletions or duplications (Williams Syndrome, DiGeorge Syndrome, etc.)

• Open Neural Tube Defects (Spina Bifida, etc.)