What is IVF with genetic testing? A practical guide for parents

Planning for a family is exciting, but at times uncertain, especially if you’re preparing for the long, expensive, and invasive IVF cycle. It's already an emotional and overwhelming process, and, depending on your situation, you might also need to consider IVF with genetic testing. 

Adding another phase to the process and extending your wait time can feel like a lot, especially when you're already doing everything you can. But here's the thing — genetic testing can help you identify the embryos most likely to result in a successful pregnancy.

We'll explain what the test means for you, how it's done, your different options, and what to do after getting your report.

What is genetic testing in IVF?

Genetic testing in IVF or preimplantation genetic testing (PGT) examines embryos created through IVF before they're transferred to the uterus. 

During the process, your fertility clinic takes a small sample of cells from each of your embryos to check for chromosomal abnormalities or genetic conditions. When these are present, they mostly lead to an unsuccessful transfer, a miscarriage, or, in some cases, a child born with a genetic disorder.

[Reddit](https://www.reddit.com/r/IVF/comments/1d15nvg/comment/l5sy26f/)(385)

While PGT doesn't guarantee you'll have a healthy baby, it helps you and your fertility specialist select embryos with the best potential to result in a successful pregnancy. For many parents, the clarity this information provides offers reassurance and a sense of control over the next steps.

What does embryo genetic testing screen for?

Understanding what PGT can reveal gives you a clearer picture of what you can expect from your results. There are usually four different types of PGT tests that screen for specific genetic concerns:

1. PGT-A

2. PGT-M

3. PGT-SR

4. PGT-P

Your doctor might recommend one or more of these tests based on your specific situation and family history. While undergoing the test may cause concern, in most cases, it simply means your care team is thorough and personalized in their approach to your treatment. 

In the following sections, we'll look at each one in more detail so you can better understand which might be right for you:

PGT-A

Preimplantation genetic testing for aneuploidy (PGT-A) is a common genetic test that checks whether your embryos have the correct number of chromosomes. 

A healthy embryo should have 46 chromosomes (23 pairs). When your embryo has extra or missing chromosomes, the condition is called aneuploidy. This condition can affect development in various ways, as shown in the table below:

If your fertility specialist suggests PGT-A testing, it's not because something is necessarily wrong with you or your embryos. This test has become a standard part of care for many clinics, especially if you're over the age of 35, have experienced pregnancy losses, or previous IVF cycles haven't been successful.

Bonus: Here's what you need to know about the PGT-A testing success rate.

PGT-M

Preimplantation genetic testing for monogenic disorders (PGT-M) looks for specific inherited conditions caused by changes in a single gene. The test analyzes gene variants known to cause these disorders.

Your fertility specialist might recommend PGT-M if:

• You or your partner have a genetic condition like Marfan syndrome

• You're both carriers of a recessive genetic condition (such as sickle cell anemia)

• One of you carries an X-linked condition (like Fragile X syndrome)

• Previous genetic screening has flagged potential concerns.

Bonus: If you've recently learned about some genetic conditions in your family, or if you've had genetic carrier screening that identified something concerning, you can talk with your fertility specialist about whether PGT-M might be helpful on your fertility journey. 

PGT-SR

Preimplantation genetic testing for structural rearrangements (PGT-SR) screens for known structural changes in chromosomes. These are the different ways your genetic material might be arranged:

• Translocations: When pieces of chromosomes have swapped places

• Inversions: When a section of a chromosome is flipped backward

• Deletions: When a piece of a chromosome is missing

• Duplications: When there are extra copies of certain sections

When your body creates eggs or sperm, your chromosomes need to pair up and separate correctly. Structural changes can disrupt this process, causing embryos to receive too much or too little genetic material, which can affect their development or prevent a successful pregnancy.

Most people only discover these variations after experiencing pregnancy losses or difficulty conceiving. PGT-SR helps identify embryos with normal chromosomes or balanced arrangements that can develop into a healthy pregnancy.

PGT-P

Preimplantation genetic testing for polygenic disorders (PGT-P) is the newest addition to genetic screening options. Instead of only one gene, it examines many genes working together to assess your future child's chances of developing certain complex genetic conditions.

Some conditions are caused by a change in a single gene, but many others result from the combined effects of multiple genes plus lifestyle and environmental factors. PGT-P helps compare your embryos based on these combined genetic risks.

This test can show which embryos might have a higher or lower risk for conditions like:

• Type 1 and type 2 diabetes

• Heart and cardiovascular diseases

• Certain types of cancer

• Mental health conditions

• Inflammatory and autoimmune disorders 

Your doctor might recommend PGT-P if your family history or previous screenings suggest risks for conditions like diabetes, heart disease, or certain cancers. This test offers additional insight when PGT-A or PGT-M don't provide enough information about these multifactorial risks. 

Who needs embryo genetic testing?

Genetic testing isn't necessary for everyone going through IVF, but it might be worth considering if you relate to one or more of these situations:

• You're 35 or older: Your eggs are more likely to have chromosomal abnormalities as you age, especially after reaching the maternal age of 35.

• You've experienced recurrent pregnancy loss: When you've had two or more miscarriages, genetic testing can help identify embryos without chromosomal irregularities that might have contributed to previous losses.

• You or your reproductive partner carry a genetic condition: If you have a family history of genetic disorders like Tay-Sachs disease, PGT can identify embryos that don't inherit the condition.

• You've had unsuccessful IVF cycles: If you've gone through IVF without success despite having seemingly healthy embryos, genetic testing might reveal chromosomal abnormalities that weren't visible under a microscope.

• You've had a previous pregnancy with a genetic abnormality: PGT can reduce the risk of recurrence if you've previously had a child or pregnancy affected by a chromosomal condition.

• You have a family history of a chronic disease: If conditions like diabetes and heart disease run in your family, PGT-P can help you assess embryos for multiple genetic markers linked to common chronic diseases.

[Reddit](https://www.reddit.com/r/IVF/comments/1d15nvg/comment/l5rp2ty)(500)

Your fertility specialist can help you decide what’s right for your situation. While PGT-A and PGT-M are often integrated into standard care, prospective parents should ask for PGT-P testing to have the complete layer of genetic insights.

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How is IVF with preimplantation genetic testing done?

Since embryo genetic testing is part of the broader IVF treatment, you'll typically start an IVF cycle first to create your embryos for testing. Here's what the process looks like:

1. Embryo creation: You'll follow initial IVF steps, including ovarian stimulation medications, monitoring appointments, egg retrieval under sedation, fertilization in the laboratory, and embryo culture for 5–7 days. 

2. Embryo biopsy and freezing: At the blastocyst stage, the embryologist will take a small sample of cells from each embryo for testing. They'll also freeze the remaining embryos to preserve them while you wait for genetic test results.

3. Genetic testing and results: The clinic will send the biopsied cells to a specialized genetics lab for analysis, which usually takes 7–14 days. You'll then meet with your fertility specialist to review which embryos tested normal and decide which one you could transfer first.

4. Frozen embryo transfer: After selecting embryos, they'll be thawed and transferred to your uterus in a quick, non-surgical procedure. You can take a pregnancy test after a week or two to see if implantation was successful.

The waiting throughout this process is often the hardest part of fertility treatment. You may be swinging between hope and worry as you anticipate the result of each phase, but at the end of it all, you'll gain clarity that can help you face the rest of your fertility treatment more confidently.

Bonus: Here's more on the IVF timeline with genetic testing included.

What your genetic testing for IVF report can tell you

PGT reports are generally clear and presented in a tabular or list format. Depending on the type of testing performed, your report may include details on chromosomal status, specific inherited conditions, or polygenic risk scores. The technical depth and interpretability can vary for your clinic or healthcare provider.

For instance, a PGT-A report includes a breakdown of each embryo’s genetic status, often shown with identification numbers and testing outcomes. Here are the classifications you'll likely see:

On the other hand, PGT-P reports often look different from standard PGT-A or PGT-M reports. In addition to embryo ID and chromosomal results, they typically include polygenic risk scores and relative risk comparisons for complex conditions, which give you a more comprehensive overview of the potential health of each embryo.

Your specialist can help you interpret your results, although some embryo analysis platforms like Nucleus give you easy-to-interpret reports by default.

What will happen after getting your PGT results?

Image source: LabTech

After receiving your PGT results, you'll begin the process of selecting which embryo to transfer, and weigh several important factors to determine which embryo has the best chance for a successful pregnancy.

Traditional embryo selection has relied primarily on two criteria: chromosomal normalcy (confirmed by your PGT testing) and morphology (how the embryo looks under a microscope). Together, these factors help assess basic viability.

When you have multiple chromosomally normal embryos that all “pass,” there’s more you can learn to make the most informed choice possible.

If you want deeper insights beyond viability, Nucleus Embryo offers advanced genetic analysis of your embryos. It allows you to upload your PGT report and explore additional genetic factors — including health risks and physical traits — before selecting embryos to transfer.

Nucleus Embryo builds on your PGT report and your fertility specialist's guidance, helping you make a personalized and well-informed decision to support the rest of your family-planning journey.

Clarity at the start of everything: Choose your embryo based on what matters most to you

Nucleus Embryo is a genetic optimization software built to help you choose your embryo based on what matters most to you, helping you go beyond viability with an intuitive interface and expanded analyses for chronic and late-onset conditions other tests miss. The platform predicts dozens of conditions and traits that standard testing doesn't show, including health risks, personality indicators, and physical traits. 

Nucleus allows you to sort, compare, and choose embryos on a clean, parent-friendly dashboard with complex genetic information explained in simple language you'll understand. 

Rather than replacing your PGT reports, Nucleus works alongside them. It helps you understand not only which embryos are viable, but also which ones are most likely to thrive based on what matters to you.

Getting started with Nucleus Embryo

Here's how to get started with Nucleus Embryo:

1. Ask your clinic for PGT-P testing with LifeView by Genomic Prediction

2. Sign up for Nucleus Embryo during or after you complete your IVF cycle

3. Request your embryos’ PGT-P DNA data from your clinic

4. Upload the data to Nucleus Embryo and analyze the embryo analysis report

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Featured image source: Mart Production