How to Talk to Your Doctor About Genetic Testing

When considering any kind of genetic testing, standard or not, it’s important for parents to consider several large questions:

What do you want to know? Is it important or not?

Before going to the doctor with questions about genetic testing, it’s important to gather information about your family history. This will help inform your decisions about what you want to know and how important it is to you. Things to look for in the family history are birth defects, delayed development, multiple women with difficult pregnancies, genetically inherited conditions (e.g., cystic fibrosis, sickle cell anemia). The most relevant people to a family history are the parents and any siblings of the baby. Once you have done this research, you can further consider whether you want to know definite answers about your baby.

When you get to the doctor’s office, you will be given a family history form. This will help open a discussion with the doctor about your concerns, options, and plans. Even if you are not interested in genetic testing, the conversation is important for clarity between you and your doctor.

If there is no family history of concern, the doctor will likely advise the standard genetic tests for pregnancies which you may opt out of:

Carrier screening tests can be done prior to a pregnancy or when pregnant. These blood tests determine recessive conditions and only needs to be done on the mother. If a positive result comes back, the test is administered on the father. Before getting a carrier test, it is worth having a conversation with your doctor about expanded screening which tests for a wider range of recessive conditions. Because testing varies throughout regions and doctors vary in how up-to-date they are, you will need to ask if the test is available to you and whether your doctor is comfortable leading you through it. This test only needs to be done once and not before each pregnancy.

– During the first and second trimester, there is a nuchal translucency test which involves bloodwork and an ultrasound or a quad screen, which is only bloodwork. These look for Down’s Syndrome as well as more severe common chromosome abnormalities.

– Your doc will likely administer an anatomy ultrasound in the 20th week of pregnancy. It assesses body shape, parts, heart function, and more.

If these tests all come back negative, there is no reason to continue with additional genetic testing.

What are your options if there are positive results?

Doctors may refer you to a genetic counselor to discuss options or you can ask for one. If your doctor does not have one to recommend, you can go to the National Society of Genetic Counselors website ( and type in your zip code. The job of the genetic counselors and doctors is to provide you with a safe and comfortable environment, balanced information, resources, referrals (to other doctors, other families), and to help you become comfortable with any decision that you make. All guidelines for genetic testing are decided by the American Congress of Obstetrics and Gynecology.

With a doctor or genetic counselor, find out what tests are relevant to your situation. Abnormalities in the carrier screening, nuchal translucency or quad test are likely to lead to conversations about amniocentesis, chronic villus sampling (CVS), non-invasive prenatal testing (NIPT), or additional ultrasounds throughout the pregnancy. It is highly determined by your particular situation, family history, and test results. You will need to ask if your additional tests are available at the doctor’s office or if you need to be referred out. If you opt for CVS or amniocentesis, be sure to find a doctor who does many of these a day, and inquire about his or her rate of complications.

What will you do with the information?

Many people use genetic tests to prepare themselves for a new baby with additional needs. Some do them to ensure a safe pregnancy and delivery. Others may determine that they are not able to support a baby with additional needs and may choose to terminate the pregnancy. It is important for the parents to discuss what would be done with the information with a doctor, a genetic counselor and, most importantly, each other, before having any additional tests.

Some information for this article was provided by Jennifer Hoskovec, a certified genetic counselor, and the Director of the Pre-Natal Genetic Counseling Service at the University of Texas Medical School at Houston.