Genetic testing before pregnancy – Understanding your options (and the questions to ask) while TTC

Here at Team TRB, we know that the trying to conceive (TTC) journey always tends to throw up a million questions.

One area where many of us look for answers is genetic testing. We know that more people are searching for genetic testing before pregnancy, trying to understand the different types of genetic carrier screening and the cost of testing, as well as where to get genetic testing before pregnancy.

With the right information, genetic testing can provide valuable insights into your reproductive health and potential risks, empowering you to make informed decisions.

Unfortunately though, the current landscape of preconception genetic testing is inconsistent. Patients often find themselves unaware of all their testing options, encounter healthcare providers who can’t explain results comprehensively, or face long wait times for proper genetic counseling. These gaps can leave us feeling confused and add an extra layer of stress, at a time when what we really need is a clear plan.

FiND Genetics aims to bridge these gaps. By connecting patients with experienced genetic counselors who take the time to explain testing options, results, and next steps, they help make the process clearer and more manageable. 

Here’s everything you need to know about genetic testing while TTC, including the key questions to ask along the way, straight from the expert team at FiND Genetics. 

Genetic testing before pregnancy – the screening to know

Genetic Carrier Screening

What is it?

Genetic carrier screening is one of the most common forms of genetic testing before pregnancy, and involves a blood test or cheek swab that determines whether you carry genetic conditions that could be passed on to your child. Typically, carriers have no symptoms or health issues themselves, making screening a crucial step for anyone TTC.

What does it screen?

Carrier screening tests for genetic conditions caused by changes in specific genes. Expanded panels can screen for 200–300 conditions, while basic panels may only test for 10–20. The conditions screened for on these panels impact childhood health and development – some may have treatment options, while others might not. Of note, adult-onset conditions like hereditary cancers are not on these panels.

When does it need to happen?

You can do carrier screening anytime before or during early pregnancy. However, doing it before pregnancy provides more time to test your partner (if needed) and make informed decisions without the added pressure of a ticking clock.

How much does it cost?

Most insurance plans cover carrier screening, but coverage may depend on whether you’re already pregnant. If you’re paying out of pocket, this kind of genetic testing before pregnancy cost typically ranges from $200–$250.

Who is it for?

Carrier screening is recommended for anyone TTC, regardless of family history, as most carriers of genetic conditions are unaware of their status. About 1-2% of couples are found to be a carrier for the same condition when screened on an expanded carrier screening panel – and only 10-15% of these couples have a known family history of the condition. 

Karyotyping

What is it?

A karyotype is a blood test that looks at the number and structure of chromosomes you have.

Who is it for?

While this is not a routine test done on everyone, it is a test that should be offered to anyone who has experienced more than 2 miscarriages.

Sometimes you can have the correct number of chromosomes, but they are in a rearranged position (referred to as a balanced translocation). If someone has a balanced translocation, they are at an increased risk for miscarriage as well as an increased risk of having a child with a chromosome change.

What can you do?

If you find out in advance that you have a balanced translocation, you can consider going through IVF and testing embryos so that only the embryos with balanced chromosomes are transferred.

Or, you can undergo diagnostic testing in early pregnancy (CVS or Amnio) to learn about the chromosomal health of your pregnancy.

Preimplantation Genetic Testing (PGT)

What is it?

PGT is a genetic test performed on embryos created through IVF.

What does it screen?

• PGT-M: Screens for specific genetic conditions if both partners are carriers, or if there is a known genetic change occurring in the family. 
• PGT-A: Assesses the chromosomal health of embryos which can help reduce miscarriage risks.

When does it need to happen?

PGT is done after embryos are created and biopsied during the IVF process, typically on day 5 of development.

How much does it cost?

Costs for PGT range from $7,000–$12,000 per IVF cycle and are rarely covered by insurance.

Who is it for?

PGT is ideal for couples with known genetic risks, recurrent miscarriages, or those seeking to improve the success rates of IVF.

Learning about your genetic risk during pregnancy

When pregnant, NIPT (Noninvasive Prenatal Testing) and First Trimester Screening (FTS) are both blood tests options that are used to assess the risk of certain chromosome changes, such as Trisomy 21 (Down syndrome), Trisomy 18, and Trisomy 13. The FTS blood work is often done in conjunction with a nuchal translucency (NT) ultrasound to assess risks. These tests provide risk estimates rather than definitive answers, reported as “increased risk,” “decreased risk,” or a ratio.

NIPT, which analyses fetal DNA, offers the highest detection rate among screening tests, which is why most practices are now offering this test. Results indicating “increased risk” are typically confirmed through diagnostic tests like amniocentesis or CVS, while “decreased risk” is reassuring but doesn’t rule out all chromosome changes and conditions.

NIPT can be performed after 9.5 weeks of pregnancy, while FTS is conducted around 12 weeks.

Diagnostic procedures like amniocentesis and CVS provide more definitive results, examining all chromosomes and offering options for detailed analysis, such as microarray. However, they carry some small risks – worth asking your provider about if you’d like to understand these better. 

Preconception genetic counseling, at a glance

What is it?

Preconception genetic counseling (also called genetic counseling before pregnancy) involves meeting with a genetic counselor to review your options, family history, and potential risks.

When does it need to happen?

Ideally before TTC or early in the process, to maximise your understanding of testing options.

Who is it for?

Anyone who wants to ensure that they are being offered all their genetic testing options, especially those with personal or family history of genetic conditions, is a good candidate.

Anyone who needs guidance on choosing the testing options that make the most sense for them might also consider preconception genetic counseling.

How much does it cost?

Out-of-pocket costs average out at around $250, though some providers accept insurance.

What to expect at an appointment?

During the session, your genetic counselor will chat to you about your options, ideally covering off:

• A review of your family history
• Available testing options
• A walkthrough of potential results and next steps

Most importantly, a good genetic counselor should be able to help guide you to make the decisions that align with your values and beliefs the most. 

Questions to ask during genetic counseling before pregnancy

1. What are the potential results from these tests, and what do they mean for next steps?

It’s important to know what each test does and doesn’t look for – and when you understand the potential results, you’ll be better prepared to know what your next step might be. 

Oftentimes patients are surprised that a particular test didn’t look for something they thought it would, and are left feeling blindsided. Understanding your next steps helps provide a framework for what to expect if the tests are abnormal.

2. When is the best time to do these tests?

The timing of genetic tests can affect the information you receive and your options for acting on the results.

Some tests that can only be done at certain times, but often there is a window.

3. What are kinds of questions should I be asking when thinking about my family health history?

It can be difficult to know where to start, but a genetic counselor will be able to help you think about the types of questions to ask your family to better understand if there can be any hereditary risks.

4. How can I prepare for potential results emotionally and practically?

This question helps you understand what support systems are available, from counseling to decision-making tools, and prepares you to process and act on results.

5. How accurate are the tests that are being offered to me, and are there any limitations to be aware of?

Genetic testing is helpful, but it can’t screen for everything! 

Understanding accuracy rates and limitations – including what conditions may not be detectable, and the possibility of false positives/negatives – will help you make informed decisions about testing and how to interpret your results.

It also ensures you set realistic expectations and are prepared for next steps if results are unclear.

Where to get genetic testing before pregnancy (and why knowing your options matters)

Genetic testing is a powerful tool for TTC couples, but it’s only helpful if you know where to turn, and can fully understand your options and their implications. 

Whether you’re just starting to explore genetic carrier screening, or you’re deep into researching genetic testing before pregnancy, having expert support makes a difference, and services like preconception genetic counseling offer a clear path forward.

With FiND Genetics, you’ll have the support you need to feel informed, confident, and prepared for the journey ahead.

Ready to take the next step? Visit www.findgenetics.com, text/call 908.509.7731 or email info@findgenetics.com to connect with one of their experienced genetic counselors today.

Want to learn more, through your morning scroll? Give FiND Genetics a follow over on Instagram @findgenetics