3 tips to get the most value from pre-pregnancy genetic testing
May 30, 2025
Planning for a family is an exciting time, but it can also be stressful if you have a family history of health conditions. You may have a cousin with a rare genetic syndrome you’ve never heard of or learn that several family members have a certain condition. Learning about your family history can lead to questions about risks for your own children and whether certain diseases can be passed down through generations or have a genetic component.
As a certified genetic counselor, I talk with individuals, families, and couples about the chance to have a baby with certain health conditions that appear in the family. Sometimes these discussions focus on established genetic disorders such as cystic fibrosis or a known cancer predisposition gene such as BRCA1. The topic of birth differences, such as a congenital heart defect, which may or may not have a genetic explanation, can also be discussed.
We may review a person’s chance to have a baby with a chromosomal imbalance, such as Down syndrome, which typically occurs sporadically and is not inherited. Some parents-to-be ask about the risk of common conditions such as diabetes or heart disease.
Having a good understanding of your family’s health history will allow for a productive conversation during preconception genetic counseling. During this consult, a genetic counselor can review and coordinate several types of genetic offerings for people who are planning pregnancy. One of the most common types of genetic testing that can be completed pre-pregnancy is carrier screening. It shows genetic risk factors that you or your partner could pass on to your child even if you have no symptoms.
You don’t have to be an expert in genealogy or genetics to gather the basic information, and it’s OK if you can’t answer every question your provider asks during the consult. Getting the most value from preconception genetic counseling starts with being curious and coming prepared to share the details you do have.
Let’s discuss three tips to prepare for your preconception genetic counseling visit.
1. Become a family historian
When you start compiling a family health history to assess any potential risks to a future child, start with the first three or four direct generations for yourself and your partner:
- Yourself, your partner, and your siblings
- Your children, if any
- Parents, aunts, and uncles
- Nieces, nephews, and first cousins
- Grandparents
When speaking with your family members to gather health history information, consider:
- How you are related
- Who has passed away and whether it was due to a medical reason
- Known conditions and age at diagnosis
- Treatments for or complications with any diseases
Your health care provider or genetic counselor will also ask about your family’s origins, such as your ethnic heritage or ancestry. Some populations have a higher risk of specific genetic mutations that can be passed down through generations. For example, people of African descent have an increased risk to have sickle cell trait or a family history of sickle cell disease, whereas the neurological condition Tay-Sachs disease is more prevalent in Ashkenazi Jewish families.
While having information about your family’s ancestry or country of origin is helpful, it is not required. Genetic testing is now done in a broad way regardless of ancestry. Anyone can be a carrier of certain conditions even if it may be more common for those who have backgrounds different from yours.
Many patients get helpful details during extended family gatherings, such as reunions or holiday get-togethers. Family members may recall specific dates or share stories that unlock additional memories. Keep in mind that family lore can include misdiagnosed conditions or terms that are no longer widely used in the medical setting.
Health topics can be a sensitive subject for some family members, and some family members may not want to talk about particular issues. If you can’t get complete information from some of your family members, don’t worry – having these details is helpful, but it isn’t mandatory. You can still get useful information from preconception genetic testing.
2. Make a list of conditions to ask about
Some genetic screening panels can now check your carrier status for more than 500 conditions, which could in turn allow for better understanding of risks to your children. Your genetic counselor will help you determine which specific genes to include in your panel of tests or what size test may be most beneficial to you.
Here are some examples of certain genetic conditions we often include with carrier screening.
Genetic disorders
A genetic condition results from an abnormality within the DNA or genome. This might be an inherited variant or a change that occurs spontaneously. Some of the genetic conditions we can screen for before pregnancy include:
- Cystic fibrosis
- Fragile X syndrome
- Duchenne muscular dystrophy
- Thalassemias
- Sickle cell disease
- Tay-Sachs disease
- Spinal muscular atrophy
Congenital diseases
Congenital health conditions are present at or before birth but are not necessarily genetic. Some of these are chromosomal conditions. Others can be associated with health factors such as maternal infection or exposure to medications. In other cases, the cause may remain unknown or be due to a combination of factors.
Since many of these congenital differences or chromosomal conditions occur by chance and are not passed down from parents, there usually is not additional testing we can do before conception. However, we may talk about ways to better understand risks once you are pregnant. Ultrasound is a great way to check a pregnancy for many physical congenital conditions, and different blood tests or diagnostic tests may also be available if there is suspicion for a genetic condition based on the ultrasound findings.
Some congenital conditions we can discuss include:
There are some conditions that we cannot yet test or screen for with current technology. Researchers continue to investigate the risk of certain health conditions such as multiple miscarriages, autism, and mental illness.
3. Gather information about lifestyle and environment
Some families are predisposed to multifactorial conditions such as Alzheimer’s disease, high blood pressure, Type 2 diabetes, or asthma with no identifiable genetic cause. With some of these conditions, environmental and lifestyle factors such as nutrition, exercise habits, or smoking can contribute to development of the disease.
While we can’t always screen for multifactorial conditions, we can connect you with specialists in endocrinology, pulmonology, or cardiology to discuss your family’s risk factors. In many cases, these specialists can help lower your risk of developing “family” diseases and manage your condition if you’ve been diagnosed. Staying on top of your health before pregnancy can help reduce the chance of complications during pregnancy and set up your future baby for a healthy start in life.
Related reading: 5 myths about pregnancy-related genetic testing and counseling
What to expect when you meet with a genetic counselor
At your preconception or prenatal genetic counseling appointment, we’ll ask you and your partner about specific concerns and questions you may have. Then we’ll discuss how genetic testing works, what we can and can’t screen for, and how much information you’re comfortable learning.
Detailed family health history
We’ll talk through your family health history to learn what information you gathered and draw a family tree, known as making a pedigree. Your counselor might ask additional questions such as:
- Is there anyone in the family with a known genetic condition, birth defect, or intellectual disability?
- For those with a known genetic condition, are genetic testing results available?
- Has anyone in the family had three or more miscarriages?
- Did any family members die suddenly with no known cause?
Answers to these questions can allow us to better understand recurrence in a family or help provide context for the results from your genetic testing.
Blood/saliva tests
If you and/or your partner decide to proceed with genetic testing, your counselor will explain the sample collection process, estimated costs, and what the results of the screening panel will look like. For carrier screening or other specialized testing, you and your partner will give a DNA sample of saliva or do a simple blood draw. The sample is then sent to a genetic testing laboratory for analysis.
Consultation on findings
When your genetic counselor gets your results, they will notify you to discuss the findings, which will also be available through our online patient portal called MyChart. The results of your panel may be confusing, so your genetic counselor can help you understand:
- Unclear terminology
- The potential for false positive or false negative results
- The level of risk associated with specific findings
- Whether further testing is needed
- Possible risk in future pregnancies
If any concerns arise, your counselor and pregnancy care provider can refer you to specialists and support resources to discuss options and next steps.
Genetic testing options during pregnancy
During pregnancy, you will likely be offered non-invasive prenatal testing (NIPT) through your Ob/Gyn office. This screening can be done starting after around 10 weeks of gestation, when there is enough fetal DNA in mother’s blood to test. This test requires only a maternal blood sample. The NIPT panel cannot provide a definitive diagnosis of a genetic condition – it only tells us whether there’s an increased or decreased chance the condition exists.
If your NIPT results or ultrasound return with a concern for a specific genetic or chromosomal condition, your care team may recommend one of two prenatal diagnostic tests: chorionic villus sampling (CVS) or amniocentesis. These safe and highly accurate tests, performed by maternal-fetal medicine specialists, allow your care team to determine definitively whether your baby has a specific condition, which can help guide the remainder of your pregnancy care.
When you and your partner begin to discuss preconception testing options and prenatal planning, keep in mind that every family and every pregnancy is unique. As genetic counselors, our goal is to help answer your questions and provide the information you need to make informed decisions.
To talk with an expert about preconception and prenatal counseling, make an appointment by calling 214-645-8300 or request an appointment online.
