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How to Prepare for a Prenatal Genetic Counseling Session

This is a helpful guide in understanding and preparing for meeting with a genetics counselor during pregnancy with advice and knowledge from a molecular geneticist and genetics educator.
couple at prenatal genetics counseling session
Updated: May 30, 2023

Learning you are pregnant can be one of the most exciting times in your life. There is so much to think about, from wondering what gender the baby will be to daydreaming about how she will look on her first day of school.

Pregnancy can also introduce anxieties that you may have never considered. This is especially true if you have concerns, including how your age, family history, and medical history could affect your unborn child.

More: I'm Having a "Geriatric Pregnancy." Am I Really At Risk?

Your doctor will most likely recommend a genetics counseling session for several reasons, especially if you have a family history of genetic disorders or conditions, or if your first trimester screening results tested positive for possible genetic disorders.

But before this suggestion spikes your anxiety levels, it’s important to know that a prenatal genetics counseling session is a time to gather details and ask questions. You’ll want to know ahead of time what you can do to prepare for a meeting with the genetics counselor. Also, knowing some facts about genetics and what to expect at a visit will help you feel more empowered and proactive. 

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What is Prenatal Genetic Counseling?

In short, genetics counseling gives you information about how genetic disorders and conditions might affect you and your family. A genetics counselor is highly skilled in helping to identify, educate, and support families who may be at a potential risk or affected by a genetic disorder. 

According to Genetic Alliance and the New York-Mid-Atlantic Consortium for Genetic and Newborn Screening Services, the initial genetics counseling visit:

  • Determines why you are seeking genetic counseling
  • Addresses your questions and concerns
  • Discusses possible risk-factors and patterns of genetic inheritance
  • Works to reduce your anxiety by increasing your understanding

The genetics counselor will also collect and evaluate your personal and family medical history and the results of your first trimester prenatal screening (the blood test and ultrasound at around 10 or so weeks). Then, he or she will help you to decide whether or not you will need further testing. 

If you have already taken a test, the genetics counseling session will explain the results to you as well as your options and next steps.

What Do Genes Have to do with Counseling?

Many expectant parents do not need genetic counseling, but doctors like to err on the side of caution—for a good reason. 

Every person inherits their chromosomes from their parents. These chromosomes contain genes, which make up your DNA and make you who you are. Humans have 46 chromosomes: 23 from the mother and 23 from the father. This results in the average human containing around 25,000 genes on each cell! 

Now consider that current science shows us if there is an error in one of those genes, it could lead to a medical issue. An example is Down Syndrome, which is also known as Trisomy 21 because it has an extra copy of chromosome 21. So, one extra chromosome can change the physical and mental makeup of the human.

Geneticists glean information from your family health history for cases of genetic disorders, diseases, and birth defects, which could also be caused by environmental factors. The Center for Disease Control website shows the estimated likelihood of a child being born with a specific birth defect, including cleft lip, Spina Bifeda, and common truncus of the heart. 

When Should You See a Genetic Counselor?

Genetic counselors are professionals who have completed a Master’s degree in medical genetics and counseling, so they will expertly guide you through the process and areas of concern. 

All experts advise that having a genetics counseling session is particularly important before and during pregnancy if:

  • The prenatal screening test or amniocentesis results were abnormal
  • The pregnant mother is 35 years or older
  • The family health history shows a genetic disease or birth defect (includes cleft palate, clubfoot, and heart defects)
  • There are histories of infertility, stillbirth, or two or more miscarriages
  • Having a previous pregnancy or child affected by a genetic condition or birth defect
  • Parental exposure to radiation, illegal drugs, infections, chemicals, and certain medicines

If the results of your first trimester screening are positive for possible chromosomal abnormalities, like Down Syndrome, then this will be a significant reason for seeing a genetics counselor.

But this isn’t to say that because you are attending prenatal genetics counseling that your baby will have a genetic disorder. It is merely a way of finding out more information and learning your options.  

Dana Bressette, a molecular geneticist and genetics educator for over 24 years, adds, “I would definitely recommend talking to a genetic counselor. They are adept at explaining the complexities of genetics at a level that will be understandable, even more so than a doctor could.”

Preparing for a Genetic Counseling Session and What to Expect

Being prepared for your genetics counseling session is important. It will help you feel more empowered and relieve some of the anxiety that can sneak in when you are unsure or worried about what will happen. 

A genetics counseling session ranges between 30 minutes to an hour, depending on the complexity of the meeting. Being prepared allows you to come to the counseling session proactively armed with facts and questions about the slim possibilities of genetic disorders or birth defects. 

The National Society of Genetic Counselors suggests being aware of the following before coming to the session:

  • Pregnancy history of you and your partner (current and past pregnancies, including births and miscarriages, terminations or abortions, or complications in pregnancy)
  • Major illnesses or chronic conditions of you and your partner (i.e. diabetes, heart disease, cancer, autism, etc.)
  • Medications taken or drug and/or alcohol abuse either currently or in the past
  • Health history of your and your partner’s families (siblings, parents, grandparents, aunts, uncles, cousins, and children)

It’s essential to be open and honest with the genetics counselor so that she can make a proper evaluation. One of the leading topics will be the family and medical histories, including possible causes of death for those that have passed. 

Knowing your and your partner’s ethnic backgrounds will also be asked as certain ethnicities have a higher rate of some genetic conditions. If you are unaware of the family history and ethnicity, share what you do know. 

The CDC says, “Family history information, even if incomplete, can help you decide which screening tests you need and when those tests should start.” And remember that not everyone will be asked to take screening tests—it’s only if you’re high-risk. 

list of what to bring to a prenatal genetics counseling session

Final Thoughts

Genetics counseling sessions are facilitated by trained medical professionals and counsellors to help you 

  • navigate through your options, 
  • educate you and your partner, and 
  • ease anxieties that may arise about the potentiality of having a baby with a genetic condition or birth defect.

Elisa Cinelli, a parenting writer and former genetics instructor, advises that the prenatal screening itself is optional; however, “One important reason mothers may choose to screen for chromosomal abnormality is so they can prepare themselves emotionally and practically for the experience of raising a baby with certain challenges. Educating oneself and processing the shock and even grief that comes with learning that your child won’t be as imagined can be very helpful.”

Knowing what to expect and how to prepare yourself for a prenatal genetics counseling session gives you the tools for understanding the complexity of genetics and how it may (or may not) affect yourself, your family, and your unborn child.

Want to know how genetics will impact how your baby will look? Check out:

Miranda Altice

About Miranda

As a Montessori and Social-Emotional Learning (SEL) teacher for nearly 15 years, Miranda has… Read more

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