Prenatal genetic counseling and testing

Our prenatal genetic counseling and testing can be helpful for families who have: 

• Family history of genetic disorders or birth defects 
• Repeated miscarriage or babies who died in infancy 
• Infertility struggles or medications 
• Pregnancy at 35 or older 
• Recent chemotherapy or other medicines 

Your genetic counselor will review family medical histories, scientific information and test results with you. Our goal is that you and your family feel prepared to make informed choices, sort through emotions and decide what’s right for you.

You’ll bring family and personal medical history, questions and concerns. We’ll bring our extensive genetic knowledge. Then we'll sit down for about an hour to get you armed with knowledge. An important part of your session will include navigating the often emotional processing of this knowledge—and the decisions you then have to make.

We provide testing for things like ultrasound abnormalities, advanced maternal age, family history issues and screen test results. With a specialized geneticist in our team and the most advanced laboratories available, we're here to help you get answers. 

Our genetic counselor works with you and our maternal fetal medicine team to explain complex genetic information and help you make informed decisions. A genetic counselor can help you understand: 

• How genes, birth defects and medical conditions run in families and how they may affect your family’s health. 
• Which genetic screening tests are available and what abnormal results mean if they show your baby may be at risk for certain health conditions. 
• Which diagnostic genetic tests are available and what the results mean to help you make decisions about your pregnancy and your baby’s care.

There are many prenatal genetic testing options available today that can provide information about genetic conditions or birth differences in a baby.

Prenatal cell-free DNA screening is an optional prenatal blood test that screens for certain genetic conditions. It can be performed as early as 10 weeks of pregnancy. Cell-free DNA screening goes by many different names including Noninvasive Prenatal Testing (NIPT) or Noninvasive Prenatal Screening (NIPS). You may have heard it referred to as the new gender test, or be familiar with specific test brand names (Harmony™, MaterniT21®, verifi®, Panorama™, etc.) 

Our blood contains fragments of our DNA known as cell-free DNA. When a woman is pregnant, her blood also contains DNA fragments from the placenta that has a genetic makeup that is usually identical to that of the developing baby. By analyzing this DNA in mom’s blood, it can be determined if there is an increased or decreased chance for certain genetic conditions in the baby. This test uses the latest technology and is currently the most accurate screening testing available.

Carrier screening is a type of genetic test that can tell you whether you carry a gene for certain genetic disorders. For some genetic disorders, it takes two genes for a person to have the disorder. A carrier is a person who has only one gene for a disorder. Carriers usually do not have symptoms or have only mild symptoms. Because they often do not know that they have a gene for a disorder, they can pass the gene on to their children. Carrier screening can help you find out the chances of having a child with a genetic disorder. If you screen positive, we recommend screening for your partner to determine potential pregnancy risk. There are larger carrier screen panels which can be ordered following genetics counseling.

Amniocentesis tests for certain genetic conditions and birth defects. It’s optional and usually performed at approximately 15 to 20 weeks at a doctor’s office that specializes in doing this procedure. Using ultrasound as a guide, a very thin needle is inserted through the abdomen into the amniotic sac, a fluid filled area surrounding the baby. A small amount of fluid is withdrawn and sent to the laboratory for testing. 

Just as you shed skin cells every day, so does your baby. This fluid contains some of your baby’s cells. Each cell contains the baby’s genetic information. The lab can look at the cells to determine if your baby has certain genetic conditions. Typically, an amniocentesis only takes a couple of minutes.

CVS is an optional procedure that can be performed between approximately 10 to 14 weeks of pregnancy. CVS involves collecting cells from part of the placenta called the chorionic villi. The cells collected contain genetic information that is usually identical to the baby. 

There are two ways to perform CVS, through the cervix or through the mother’s abdomen, to remove and test cells from the placenta. The CVS typically only takes a few minutes to complete.