Overview of Genetic Testing


If you know you need IVF, you might want to speak to your fertility doctor about Pre-implantation Genetic Testing for Aneuploidy (PGT-A) and if it might benefit you. PGT-A testing is a genetic analysis of the embryos produced during your in-vitro fertilization cycle. It can be a powerful tool in helping you achieve both a successful IVF cycle and healthy pregnancy.

What is PGT-A Testing?

PGT-A testing screens your embryos for any chromosomal abnormalities (an aneuploid source) before transferring an embryo. If you and your reproductive endocrinologist feel you could benefit from this test, it can fit easily into your existing IVF protocol.

The treatment would start as usual: with ovarian stimulation and monitoring. Next, the eggs would be retrieved and fertilized in an IVF lab. Then, after fertilization, a biopsy is taken. This means that a few cells from each embryo are extracted and carefully screened. Each cell ideally contains 23 pairs of chromosomes, or 46 chromosomes total. Next, PGT-A analyzes the 23 pairs of chromosomes, looks to see if there are any extra or missing copies of the chromosomes and determines the gender chromosomes (X and Y) that verify the sex of the embryo. 

When Might PGT-A Be Medically Necessary?

PGT-A can help determine whether embryos have the correct number of chromosomes. If they do, the embryos are known as euploids. It is reported to increase pregnancy rates per transfer and decrease the risk of miscarriage. It may be considered medically necessary if you fall into any of the following categories:

  • If you’re a woman over 35 years old, ACOG (known as the American College of Obstetricians and Gynecologists) has indicated that women over the age of 35 are at high risk for disorders that might harm their fertility and cause miscarriages. In general, as women age, the chance for chromosomal abnormalities in embryos increases. PGT-A can be helpful for these patients.
  • If you’ve experienced more than two miscarriages, PGT-A is known to reduce miscarriage rates by testing for chromosomal abnormalities in embryos before transfer. Research shows that approximately half of all miscarriages are due to chromosomal abnormalities.
  • Suppose you’ve had previous rounds of IVF that were not successful. In that case, PGT-A can support the likelihood of a healthy embryo being transferred, which will improve your outcome. Ideally, this would deter you from going through any additional IVF cycles.

What About Genetic Testing Such As PGT-M?

As mentioned, PGT-A can identify a potential cause of Recurrent Pregnancy Losses (RPL) or why you’ve had previous unsuccessful fertility treatments. Likewise, with Preimplantation Genetic Testing for Monogenic (PGT-M), it can identify whether you or your partner may have a higher chance of a specific genetic disease and decrease the chances of passing it on to your children. 

PGT-M can also be customized to detect a specific monogenic/single gene defect if you may have an inherited genetic disorder. For example, it screens for specific inherited abnormalities that can be found in conditions like Tay-Sachs, Cystic Fibrosis, Spinal Muscular Atrophy, Fragile X, Huntington’s disease, or Breast or Ovarian Cancer (BRCA1 and 2), etc.

For example, suppose you’ve had carrier screening or a known family history where you know you or your partner is a carrier of any sickle cell anemia, muscular dystrophy, or any of the above-mentioned genetic conditions. In that case, PGT-M will guide your medical team in determining which of the embryos are unaffected.

If you feel you fit into any of the above categories, or you simply have concerns that you feel genetic testing could address, we encourage you to speak to your reproductive endocrinologist about PGT.

You can discuss your treatment with your partner and reproductive endocrinologist. Fairfax Surrogacy wants you to feel well-informed about the options available to you!