What Is Genetic Counseling?

If your baby is at risk of developing a genetic disorder, your doctor may recommend visiting with a genetic counselor. These professionals can help guide you through your high-risk pregnancy journey, particularly if you have questions or concerns about how your medical history may affect your baby.

Genetic counselors are medical professionals who hold a master’s degree in genetic counseling. Their job is to provide patients with support and detailed information regarding birth defects, genetic disorders and the possible risks of inherited conditions. They can help you better understand your risk factors and will create a plan to support you and your baby throughout your pregnancy.

What Is Genetic Counseling and Testing?

Your baby is made up of genes and chromosomes from you and your partner. Sometimes, these genes can change or go missing during development, resulting in a genetic disorder. Some genetic disorders include:

• Cystic fibrosis: Cystic fibrosis is a rare disorder that affects the lungs and organs. It is more common among people of European ancestry.
• Sickle-cell anemia: Commonly seen in people of African descent, sickle-cell anemia affects the red blood cells.
• Tay-Sachs disease: Tay-Sachs disease affects the nerves in the brain and spinal cord.

Other disorders are caused by issues with the chromosomes. These include:

• Down syndrome: Babies with Down Syndrome, the most common chromosomal disorder, can have a wide range of physical and intellectual symptoms. With the right support, they can live happy, fulfilling lives.
• Turner syndrome: Turner Syndrome is only seen in female babies and can affect height and fertility later in life.
• Klinefelter syndrome: Only seen in male babies, Klinefelter Syndrome can affect height, fertility and learning abilities.

Genetic counselors can help you identify your risks of these disorders through genetic testing. These tests can be done through either a blood draw from you and your partner, or an amniocentesis or sonogram of the fetus. The counselor will go over the results with you and help you create a plan for the rest of your pregnancy.

There are many reasons you could be referred to a genetic counselor, including:

• Family history of or a previous child with a genetic disorder such as Down syndrome or cystic fibrosis
• Risk of spina bifida or other open neural-tube defects
• Maternal age of 35 or over
• Abnormal maternal screening or ultrasound tests
• Abnormal blood draw results
• Exposure to illness, infection or environmental toxins that could affect the baby
• Recurrent miscarriages

What to Expect at Your Appointment

When preparing for your appointment, gather any medical records you have and bring them with you. It also helps to ask your family members about any major medical concerns or conditions they have. Write down your own questions and concerns so you won’t forget them during your conversation with the counselor.

During the appointment, the genetic counselor will go over your medical history, any screening or testing results you may have and any questions you may have. They will recommend testing options as your pregnancy progresses, such as an amniocentesis.

You are not required to see a genetic counselor, but many parents find the conversation useful and clarifying. Genetic counseling is a service that will allow you the opportunity to have a personal conversation regarding the concerns about your pregnancy, a detailed discussion about your options and assessment for possible genetic health risks. A genetic counselor’s goal is to educate parents and help you feel confident about your pregnancy journey.

Depending on your genetic counselor’s recommendations, you may decide to pursue further testing. These tests can include:

• Maternal serum screening: This blood test is used to assess the risk of certain chromosomal disorders.
• Carrier screening: This test can be done before or during pregnancy and can help determine whether your baby will be at risk for certain genetic disorders, including cystic fibrosis, sickle cell anemia, spinal muscular atrophy and others. 
• Non-invasive prenatal screening: Procedures such as a sonogram or ultrasound use high-frequency sound waves to provide images for healthcare providers. 
• Amniocentesis: Testing the amniotic fluid can help diagnose problems while your baby is still in the womb. 
• Chorionic villus sampling (CVS): For this test, doctors take a sample from the placenta via either the abdominal wall or cervix to test for genetic and chromosomal disorders. 

Please remember that tests are your choice and are not required as part of your pregnancy journey. You can discuss the benefits and risks with your counselor before making the decision that’s right for you. Depending on your plans and testing results, you may end up working with a genetic counselor for the remainder of your pregnancy.

The possibility of a genetic or chromosomal disorder can be scary, but with the support of a genetic counselor and your team of healthcare providers, you can make informed decisions that support you and your family. Open communication about your fears and concerns is important, so don’t hesitate to reach out to your counselor or loved ones.

If your baby is diagnosed with a genetic or chromosomal disorder, it’s completely understandable to feel devastated or overwhelmed. While some disorders will have minor effects on your child’s quality of life, others will have life-long ramifications for you and your baby. 

After diagnosis, you may be faced with some difficult decisions. It’s important to allow yourself to feel any negative emotions you have, including anger, sorrow or grief. Your genetic counselor will be there to go over the details of the diagnosis and help you create a plan for the future, including any interventions and future support your baby may need. 

Many parents find that education and preparation before their baby’s arrival can help to improve the transition into parenting a potentially high-needs child. Together with a team of maternal-fetal medicine specialists, your genetic counselor can help guide you through this difficult time and toward the best possible outcome for you and your baby.