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Genetic Counseling: The Role It Can Play in Family Planning and Pregnancy

how genetic counselors can help patients understand complicated genetic information, and their options

Making the decision to add a branch to your family tree is an important one. But have you considered how the health history of you and your partner’s families may affect future generations?

While most babies will be born healthy, it’s important to understand options for learning details about your baby’s health. 

Genetic counseling

A genetic counselor helps a patient understand complex genetic information and options available if genetic testing is performed. Genetic testing is part of the genetic counseling process, but it is not required to undergo genetic counseling.

You can meet with a genetic counselor virtually using telehealth technology from the comfort of home. This eliminates needing to travel to a hospital or clinic location, especially if you have other children at home.

Your  obstetrician-gynecologist (OB-GYN) can refer you for genetic counseling if you are interested in learning about you and your partner’s genes. You also may be referred if you have certain risk factors.

Risk factors include:

  • Being 35 or older.
  • Having a family history of genetic conditions.
  • Having a child affected by a genetic condition or birth defect.

An appointment with a counselor includes a review of personal medical history and family health history. A family tree, called a pedigree, is created to document your family history.

Based on your family history, the genetic counselor will determine if testing is available and help parents decide whether details gathered from testing would be beneficial to the pregnancy.

With counselor guidance, parents may decide not to pursue genetic testing based on family history. If testing is not warranted based on family history, screening options are available for genetic conditions that occur randomly or can hide in families.

Genetic testing

Genetic testing involves examining your DNA, the chemical database that carries instructions for your body’s functions. Genetic testing can reveal genetic changes that can cause illness or disease.

Genetic testing is available for women who are pregnant or planning a pregnancy. A genetic counselor is a trusted partner each step of the way, helping interpret and navigate genetic test results.

Family planning 

It is recommended to see a genetic counselor prior to pregnancy due to testing that can be performed prior to pregnancy to assist with conception planning. During preconception counseling, carrier screening can be performed for over 200 inherited conditions that can hide in families.

Knowing your genetic risk can help determine risk for children to have the same condition. When the potential for inherited conditions is determined before conception, there are ways to avoid passing on the affected genes.

Prenatal or pregnancy

Genetic testing can be performed during pregnancy to screen for common conditions that occur randomly and are not passed on in families.

Determining the risk for these genetic conditions can help parents prepare medically and emotionally to have a child with a genetic condition. Testing can include an anatomic ultrasound or a blood test for the mother, which may include cell-free DNA screening. Prenatal screening tests usually are performed during the first or second trimester.

Each step of the consultation, screening and testing process is done through collaboration and conversation between the genetic counselor and patients. The patient’s OB-GYN and other members of the care team are included so pertinent information is shared with those involved in the care of the mom and baby during the pregnancy. 

The primary goal of genetic counseling is to provide information and support patients as they make informed decisions about their health and the health of their family.


Rachel Keppers specializes in genetics, or inherited diseases, for Mayo Clinic Health System. This article is part of our Partner Content program. Learn more about that here.



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