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Genetic Testing (PGT-A, PGT-M)

Preimplantation Genetic Diagnosis & Chromosomal Screening of Embryos

When genetic health concerns may be an issue, Pacific NW Fertility is proud to offer the most advanced diagnosis and screening techniques available. The two most common types of genetic testing are to test patients for single gene disorders (i.e. genetic mutations) that could be passed on to their children, and to test embryos for genetic abnormalities that may occur within the embryo’s initial development.

genes icon

Genetic Testing (PGT-A, PGT-M)

Preimplantation Genetic Diagnosis & Chromosomal Screening of Embryos

When genetic health concerns may be an issue, Pacific NW Fertility is proud to offer the most advanced diagnosis and screening techniques available. The two most common types of genetic testing are to test patients for single gene disorders (i.e. genetic mutations) that could be passed on to their children, and to test embryos for genetic abnormalities that may occur within the embryo’s initial development.

PNWF Approach

Learn more about genetic testing from these two helpful videos from Cooper Genomics:

Preimplantation Genetic Diagnosis

Preimplantation Genetic Screening

Process & Options

Single gene disorder testing for patients planning to conceive

The goal of this type of testing is to screen patients for genetic mutations that could be passed on to their children. Examples of the diseases that can be detected with this type of testing are cystic fibrosis, spinal muscle atrophy, Tay Sachs disease, and more. For these types of diseases – we have to know before the IVF cycle if patients carry these mutations in order to know to look for them within the embryos. Knowing that you are a carrier for a genetic mutation allows the option of testing embryos (during an IVF cycle) for a specific genetic mutation before any embryos are transferred.

Chromosomal Screening (PGT-A) for embryos

The goal of this type of testing is to ensure the correct number of chromosomes (46) are present in each embryo. Embryos with a normal chromosomal count are more likely to result in a healthy full-term pregnancy. An incorrect number of chromosomes may result in Down’s syndrome (3 copies of chromosome number 21) or miscarriage (up to 70% of miscarriages tested show chromosomal errors).

During an IVF cycle, several cells from each blastocyst (an embryo that has been developing for 5 to 6 days) are biopsied by our own highly trained embryologists. These cells are sent to Genesis Genetics for analysis to ensure that only embryos free of identified risks will be transferred into the patient’s uterus. The embryos are then frozen with an advanced technique called vitrification and stay at Pacific NW Fertility and IVF Specialists during the entire process. 

Waiting for the PGT-A results and conceiving in a future cycle has significant benefits for the patients. In addition to screening for the most viable embryos available in an IVF cycle, it allows time for the patient to recover from ovarian stimulation. Studies have shown that transferring embryos into a uterus with a more natural hormonal environment may allow for a higher chance of conception. Studies also support freezing the embryos with vitrification does not decrease success with implantation.

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