Amniocentesis

Insight Medical Genetics offers a wide range of prenatal testing services for our patients. Amniocentesis is one such procedure that we typically perform during the 15th week of pregnancy or later. 

Amniocentesis involves removing a small amount of amniotic fluid from the amniotic sac in order to examine fetal DNA. In the amniotic fluid, there are fetal cells called amniocytes. Amniocytes are cells that originated from the fetus and can be tested for chromosome abnormalities or other specific genetic changes.

Patients Who Can Benefit From Amniocentesis

Any woman may choose to pursue amniocentesis during her pregnancy to gain diagnostic information about chromosomal aneuploidies and other genetic conditions. Amniocentesis is generally offered when a pregnancy has an increased risk for a fetal chromosome abnormality or other genetic condition. Factors that could put a woman at an increased risk include:

  • Age 35 or older at the time of delivery
  • A positive first trimester screen or cell-free DNA result
  • Findings identified by previous genetic screenings
  • Certain abnormalities identified by ultrasound
  • A history of a previous pregnancy with a chromosome abnormality

Amniocentesis Can Help Provide Answers  

The results of an amniocentesis are considered to be diagnostic, meaning this procedure can help clarify information about questions raised by previous testing. If you are considering an amniocentesis because of a prior ultrasound finding or a positive screening test, you will obtain a definitive answer to the questions these tests have raised. 

If a chromosomal change or other genetic condition is detected, the patient or couple will be counseled about what abnormalities would be expected in a child with this result. This counseling enables the patient to make an informed decision about how to proceed with the pregnancy.

What is Amniocentesis and What to Expect

Amniocentesis is an outpatient procedure that is performed by one of Insight’s medical directors over two appointments, typically in a single day. Here’s how it works: 

  • During your first appointment, you will be scheduled for a consultation with a genetic counselor and you may also have blood drawn. 
  • During your consultation, we will review aspects of the amniocentesis and the testing that will be performed. 
  • You will then go to a hospital to have the amniocentesis procedure.   

Though the amniocentesis itself will take only a couple of minutes, we advise that you block off a larger portion of your day for both appointments. Your partner or other support person may accompany you for all portions of the procedure.

There’s typically no need to plan for a recovery period following this procedure. You should be able to resume normal activities, but we suggest that you refrain from heavy lifting, strenuous exercise (such as jogging, aerobics and tennis) and sexual activity for 24-48 hours following the amniocentesis.

Receiving the Results of Your Amniocentesis

FISH (fluorescence in situ hybridization) is a laboratory method that we use to get rapid results for the most common chromosome abnormalities. If your amniocentesis procedure is performed in the morning, results of the preliminary FISH analysis are usually available on the same day. You will then be informed of the complete results from the in-depth lab analysis within two weeks. If you are having amniocentesis due to a high risk for another genetic condition, your genetic counselor will discuss the details of your specific testing during your consultation.

Scheduling Your Amniocentesis

If you are interested in scheduling an amniocentesis, please call us at (312) 981-4400 and we will guide you through the process. Be prepared to provide information about yourself, your pregnancy and your insurance coverage. If you have any additional concerns due to your personal or family history, please inform us of these concerns when you call. Generally, we will call you back within one business day to schedule the amniocentesis.