Amniocentesis

Genetic amniocentesis is generally performed when a woman is at least 15 weeks pregnant. Your doctor will recommend an amniocentesis if possible birth defects are found on the ultrasound or you are at an advanced maternal age. During this test, amniotic fluid will be removed from the uterus for testing.

First, you will need to get an ultrasound so your doctor can determine where the pocket of amniotic fluid is located. Once it is located, a small sample of fluid is taken with a syringe to be tested in a lab. The procedure is safe, with less than one out of 750 procedures resulting in the risk of miscarriage.

Carrier testing for common genetic diseases

Carrier testing can rule out the chances of a few common inherited diseases. These genetic diseases are not linked to family history. Generally, a blood test can determine whether both parents of the baby classify as a carrier for diseases, such as:

• Cystic fibrosis, or CF, a chronic disease that can harm reproductive, digestive and respiratory systems
• Spinal muscular atrophy (SMA), a disease that destroys nerve cells, causing children to lose muscle control
• Fragile X syndrome, a disease that causes developmental issues, such as learning disabilities and cognitive impairment
  
  Please speak with your physician if you have concerns or questions related to carrier testing.