Genetic Testing Before Pregnancy: Your Expert Guide

There’s a lot to think about when you’re trying to conceive (TTC).

And one thing on your mind might be the possibility of passing on a condition to your baby if you get pregnant.

Genetic testing before pregnancy assists in highlighting possible conditions facing your unborn child.

And that knowledge can empower you to make your own informed choices before becoming pregnant.

Here, we’ll talk you through how genetic testing before pregnancy works, what kind of conditions they look for, and the pros and cons of getting tested.

In this article: 📝

What is genetic testing before pregnancy?

Genetic testing before pregnancy goes by a few different names.

You might hear it called “preconception genetic testing,” “carrier screening,” or prenatal genetic testing.

Basically, this type of testing analyzes your DNA to find out if you are a “carrier” for a particular genetic condition.

Why do you need genetic testing before pregnancy?

We're born with 22 pairs of homologous (meaning the same) chromosomes and one pair of sex chromosomes (referred to as X or Y chromosomes).

Each of the 22 pairs contains the same genes in each chromosome.

A child inherits a set of homologous chromosomes from each parent, and differences in your genes may lead to certain inherited conditions.

Some of these conditions require both copies (one from each biological parent) of the relevant gene to be affected.

In a nutshell, hereditary conditions stem from inherited mutated genes, which can be passed on from parent to child via different patterns of inheritance.

What they are looking for in genetic testing?

Sometimes, only one gene has mutated, meaning you could be a carrier despite not having the condition yourself.

So, typically, one of you would usually be tested first (the one more likely to be a carrier).

And if you test positive, then your partner will be tested.

It’s also possible for both of you to be tested at the same time.

If you’re both found to be carriers of a genetic condition, the risk of passing this on to your future baby looks something like this:

• 50% chance that your baby is a carrier (they inherit a healthy gene from one parent and a mutated gene from the other parent).
• 25% chance that your baby is not a carrier (they inherit two standard genes, one from each parent).
• spacer
• 25% chance that your baby has the condition (they inherit two mutated genes, one from each parent).

What genetic testing is done before pregnancy?

There are two main approaches to genetic testing before pregnancy: targeted and expanded.

• Targeted genetic testing screens for particular conditions based on your ethnicity or personal and family history.
• Expanded genetic testing screens for hundreds of different conditions, many of which are rare and difficult to treat.

What does prenatal genetic testing test for?

Currently, ACOG recommends that all pregnant women or women thinking of becoming pregnant are offered testing for:

• Cystic Fibrosis
• Spinal Muscular Atrophy
• Blood disorders (including Sickle Cell Disease and Thalassemia)
  You could also be screened for “X-linked” genetic conditions where there’s a variance to the X-chromosome.

As discussed before, we all have one pair of sex chromosomes — one from each parent.

Females have two X-chromosomes.

Males have an X-chromosome and a Y-chromosome.

Examples of X-linked genetic conditions are:

• Fragile X Syndrome
• Duchenne Muscular Dystrophy

Can you get genetic testing for autism before pregnancy?

There’s no specific pre-pregnancy genetic test for Autism spectrum disorder (ASD).

The causes of ASD are complex and include genetic, biological, and environmental factors.

Who should get genetic testing before pregnancy?

Your doctor might recommend prenatal genetic testing if you or the other biological parent are of a specific ethnic background, as some conditions are more common in particular groups of people.

Conditions that can be tested for include:

• Tay-Sachs disease, for those of Ashkenazi Jewish, French Canadian, or Cajun ancestry
• Alpha or Beta Thalassemia, for those of Mediterranean, Middle Eastern, and some Asian ancestries
• Sickle Cell Disease, particularly for those whose ancestors come from sub-Saharan Africa, Saudi Arabia, India, the Caribbean, Central and South America, Turkey, Greece, and Italy.
  Plus, you may consider testing if you have a history of a certain condition in your extended family or if you’ve had a child with that condition before.

How is prenatal genetic testing done?

Some tests require a blood sample, and some tests are as easy as doing a cheek swab (to get a tissue sample).

The sample is then sent to a lab for the tests to be carried out.

As we mentioned above, it’s common for the parent most likely to be a carrier to be tested first, and only if the test results are positive is the other parent tested.

But if you need results fast, you should both be tested at the same time.

Once you’ve had the tests, you can talk through the results with your healthcare provider or a genetic counselor (a healthcare professional specially trained in genetics).

They can help you understand the levels of risk.

Some disorders are manageable, while others can be potentially devastating.

These practitioners can assist you while you make the choice to fall pregnant or not.

Also, the information gained from the testing can be life-changing for other family members, and the counselor can help you navigate the process of breaking the news to them.

Where to get genetic testing before pregnancy?

If you’re having tests recommended by your doctor, the testing could be organized through your doctor’s office.

And you would probably go there to provide your sample.

If you’re using a private testing company, you might be sent an at-home testing kit.

You would then take the sample yourself and send it off to the company’s lab.

We’d like to advise you that whatever testing you choose, make sure you have a reputable practitioner to guide you through the results.

How much is genetic testing before pregnancy?

The cost depends on the type of tests that will be performed.

It could be anywhere between $100 and $2,000.

If the tests are recommended by your doctor, then the cost might be covered by your insurance. So it’s a good idea to get in touch with your provider to find out more.

Should you get genetic testing before getting pregnant?

Whether or not to have genetic testing before pregnancy is ultimately your personal choice.

To help you weigh up your options, here are some prenatal genetic testing pros and cons to consider:

1. Gain info to help guide your conception and pregnancy journey

The knowledge you gain from testing can be empowering.

You might weigh the risks and decide to go ahead with a pregnancy as planned.

Or you might consider alternatives such as IVF using donated eggs or sperm or adoption.

Having a child is a lifelong commitment, and either way, these tests may help you in deciding how to move forward.

2. Build an understanding of your family history

Testing could give you a better understanding of your family health history and whether you’re in a high-risk group for certain genetic conditions.

This can be particularly beneficial if you are adopted and don’t know much about your biological parents or if you come from a multi-ethnic background.

3. Share results with family members

It might be helpful to share your results with family members who could also be affected, so they can pursue testing if they want to.

(But note that you don’t have to do this if you’d rather keep the results private.)

4. Risk of inaccurate test results

There’s no test that’s 100% accurate.

You might get a false negative test result, meaning it says you’re not a carrier for a genetic condition when you actually are.

Or (more rarely) the test could say you’re a carrier when you’re not.

The risk of an inaccurate test result could cause extra stress and uncertainty when you’re trying to make decisions about starting a family.

Unless you know certain conditions run in your extended family, it may be better to not do extensive testing.

The saying often goes, if you test enough, you will find something, so be careful of over-testing.

And research the testing company you choose before going ahead.

5. A test result isn’t the whole picture

It is worthwhile to note that the test might flag a risk that your baby may inherit a specific condition.

But generally, it doesn't mean it’s cast in stone.

As discussed earlier, there is a possible chance your unborn child won't have the condition, or the severity may vary extensively.

We know the subject of prenatal genetic testing throws up a lot of big questions.

It’s important to give yourself time and space to think things through and seek support if you need it.

If you decide to do genetic testing before pregnancy, make sure you have an understanding general practitioner or specialist counselor who can guide you through the results in an informed way.

And remember that the Peanut community is here for you.

You don’t have to do this alone. ❤️