Embryo Genetic Testing [A Guide]

There are two main types of embryo genetic testing, and there is quite a bit to know about it. Learn more about how PGT can influence your IVF journey.

One of the key steps of building your family through IVF is the genetic testing of embryos.  Understanding the nuances of genetic testing can help you understand the health of your embryos and in turn, help you make informed decisions about which embryos you select for transfer.

To learn more about the different types of embryos PGT tests for and their success rates, read our article.

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What Does Genetic Testing of Embryos Show?

In short, embryo genetic testing, also referred to as preimplantation genetic testing (PGT), is the genetic screening of embryos to check for any potential abnormalities. There are two main types of genetic testing of embryos to be aware of: PGT-A and PGT-M.

Below, we’ll dive into the nuances of each.

Preimplantation Genetic Testing for Aneuploidy [PGT-A]

This is a form of genetic testing on embryos that was previously known as preimplantation genetic screening (PGS). PGT-A is specifically designed to test for chromosomal abnormalities. The A in its name stands for aneuploidy, a genetic disorder where a human cell has more or less chromosomes than the typical 46.

It can screen for conditions such as:

  • Down syndrome

  • Trisomy 18

  • Trisomy 13

  • Turner syndrome

Preimplantation Genetic Testing for Monogenic Disorders [PGT-M]

Once known as preimplantation genetic diagnosis (PGD), PGT-M is an add-on treatment of genetically tested embryos to detect a particular mutation, hence the M in its name. For example, it tests for genetic conditions like:

  • Hemophilia

  • Cystic fibrosis

  • Huntington's disease

  • Sickle cell anemia

  • Muscular dystrophy

How Are Embryos Screened for Genetic Disorders?

After the embryos have been created through in vitro fertilization (IVF), the lab technicians perform a biopsy by removing roughly five to 10 cells. From this point, the embryo is frozen and the isolated cells are sent to another department for genetic screening and further analysis.

How Long Does Embryo Genetic Testing Take?

The amount of time it takes a lab to complete genetic testing will vary, but you can generally expect results back between two weeks to three months. For reference, the UCSF Center for Reproductive Health generally takes about 3 months in total, whereas Vida Fertility takes two to four weeks.

Genetic Testing of Embryos Pros and Cons

When it comes to the advantages and disadvantages of embryo genetic testing, the positives include:

  • Detecting genetic disorders
  • Reducing the risk of miscarriage
  • Determining which embryos are most likely to result in a pregnancy

For the most part, PGT has the same risks as IVF or any other fertility treatment. More specifically, PGT-A carries the risks of:

  • A potential misdiagnosis
  • Having no embryos to put back in the womb if all the embryos contain abnormalities

These are rare occurrences, but they do happen. Be sure to speak in detail with your fertility clinic about this ahead of time. You’ll want to go over all the risks and make sure that your surrogate is as safe as possible going into this process.

Does Genetic Testing Damage Embryos?

PGT involves taking a biopsy of a certain amount of cells, whether that’s one cell or several of them. It’s worth noting that the removal of these cells can occasionally damage the embryo and stop it from fully developing after it has been transferred into the womb.

However, PGT is often performed without damaging the embryo. Reports show that around 95-97% of embryos are left unharmed after undergoing PGT.

Is Embryo Genetic Testing Worth It?

Preimplantation Genetic Testing (PGT) can be highly beneficial for many families, particularly those with a history of genetic disorders or who are undergoing IVF treatments. Here are some key points to consider:

  • Increase the likelihood of success: PGT may increase the chances of a successful embryo transfer because it can help determine which embryos are healthy and which may be genetically abnormal and more at risk of not implanting or resulting in a miscarriage. Knowing which embryos are optimal for transfer means that you may become parents faster.
  • Cost-effectiveness: There is also a higher chance that you won’t have to spend more money on another round of IVF or another transfer cycle.
  • Screening for genetic disorders: PGT allows for the detection of specific genetic conditions in embryos before implantation. This is especially valuable for couples with known genetic disorders, as your future child is more likely to be born without certain genetic disorders.

We understand if you have questions about how all of this works. That’s why we’re here to answer them.

You can read our guide to embryo genetic testing results.

On top of that, we can help you fill out your surrogacy planning questionnaire when you reach out to us online. Completing this questionnaire can help you get a feel for the surrogacy process before committing. By getting this step done ahead of time, your surrogacy journey will go much quicker. We look forward to hearing from you soon!