PGT

Preimplantation Genetic Testing allows us to test your embryos for genetic disease and chromosomal abnormalities prior to getting pregnant.

What is Preimplantation Genetic Testing?

Preimplantation genetic testing (PGT) is designed to improve fertility treatment success rates by allowing your fertility care team to choose the healthiest embryos for IVF treatments.

The same issues that make it difficult to conceive at home, like chromosomal or genetic abnormalities, also impact fertility treatments. By testing embryos for anomalies before transferring them into the uterus, we increase your likelihood of giving birth to a healthy, full-term baby.

Preimplantation Genetic Testing (PGT) Explained

By developing embryos in the lab, we can test them for some of the most common chromosomal or genetic abnormalities that could compromise conception, implantation, and pregnancy. And, unlike with pregnancy, where women have to wait until at least week 12 to learn more about their baby’s chromosomal/genetic health or may have the traumatic experience of repeat miscarriages, PGT allows us to screen for chromosomal abnormalities on eligible embryos prior to transfer.

Three Types of PGT

There are three types of tests we use to learn more about the viability of an embryo:

This test is used to identify embryos with the right number of intact chromosomes. Healthy humans have 23 pairs of chromosomes, for a total of 46. Half of these come from the sperm, and half from the egg.
Any issues with chromosome pairs (missing, extra, broken, damaged) is called aneuploidy, which we know is the cause of about 60% of all miscarriages and for a significant number of the most common congenital disabilities, like Down syndrome and trisomy disorders.
The PGT-A tests identify the number of chromosomes per embryo as well as embryos with chromosomal abnormalities. IVF patients who use PGT-A testing:
  • Provides more information about which embryos are euploid, aneuploid, or mosaic.
  • Have higher pregnancy rates per cycle in certain populations.
  • Experience lower miscarriage rates.

PGT-M tests are used to screen embryos for inherited genetic disorders that are carried on a single gene and are known to cause defects, diseases, or illness. Monogenic disorders can also contribute to an embryo’s inability to implant or grow to full term.
PGT-M is most used for patients who are known (or suspected) carriers of a monogenic disorder. Some of the most common include:
  • Tay-Sachs disease
  • Sickle cell disease
  • Cystic fibrosis
  • Fragile X syndrome
  • Spinal muscular atrophy
  • BRCA1/2-related hereditary cancers
  • Huntington disease
If you don’t know whether or not you’re at risk of carrying a monogenic disorder, the first step is preconception genetic screening (PGS) at your GP’s office or as part of your fertility testing. Check with your health insurance provider beforehand to determine whether these tests are covered by your plan. Depending on the results of those tests, we may recommend PGT-M.
Patients most likely to use PGT-M:
  • Have a personal or family history of a monogenic disorder.
  • Already have a child with a monogenic disorder (meaning one or both of the parents are carriers).
  • Both partners had a carrier screening and tested positive for a monogenic disorder.
  • Parents interested in HLA matching for an existing affected child.
This test is only recommended for patients who are carriers or who are recommended to do so by their physician, genetic counselor, or fertility specialists based on their family medical history or if preconception genetic screening indicates they’re a carrier.

While less common, individuals or couples pursuing IVF can also have embryos tested for structural rearrangements of chromosomes. While PGT-A+ (listed above) tests for spontaneous episodes of chromosomal abnormalities – meaning the parent’s chromosomes may be normal, their egg/sperm had irregular abnormalities, or a spontaneous abnormality occurred during the fertilization phase.
However, there are also cases where a parent’s chromosomes may be compromised, even if they don’t show any phenotypic or physical side effects. In this case, they’re more likely to pass those abnormalities on to their children. PGT-SR looks for embryos that have missing or extra genetic material.
In most cases, you would not use PGT-SR unless your physician, genetic counselor, or fertility specialist recommends doing so.

Your fertility specialist will help you determine which one(s) make the most sense based on your health and reproductive history, infertility testing results, and your partner’s infertility testing results (if applicable).

Speak To NCFMC About PGT & Its Benefits

As fertility specialists, we aim to increase our patients’ chances of a healthy fertility treatment outcome. In many cases, this includes using preimplantation genetic testing to select the best embryo for transfer.

Schedule an appointment at the Northern California Fertility Medical Center to learn more about your PGT options and which ones (if any) we feel are best, depending on your age, health, and reproductive history. We are proud to use the most innovative, cutting-edge technology to make our patients’ family-building dreams come true.

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