Preimplantation Genetic Testing (PGT)

By identifying chromosomal or genetic abnormalities early, Preimplantation Genetic Testing (PGT)  testing reduces the risk of miscarriage, helps prevent inherited conditions, and increases the chances of a healthy baby.

At Audubon Fertility, we utilize a variety of technologies to perform:

• Preimplantation Genetic Testing for Aneuploidy (PGT-A)

• Preimplantation Genetic Testing (PGT-M)

• Family Balancing & Gender Selection

Who might consider genetic testing?

• Women over 35 who are undergoing IVF

• Women who’ve experienced recurrent miscarriages

• Women who’ve experienced multiple failed IVF cycles

• Parents who are known carriers of a genetic disease

• Parents who have a child with a genetic disease

• Parents who are interested in gender selection or family balancing

PGT-A vs. PGT-M

Both PGT-A and PGT-M are performed on cells from embryos in our embryology lab, but they have different purposes and screen for different genetic problems. PGT-A looks for potential genetic abnormalities when there are no known inherited disorders. PGT-M, on the other hand, is used to detect a known specific disorder that has a high probability of being passed down to your baby.

Preimplantation Genetic Testing for Aneuploidy (PGT-A)

One of the most common reasons for the failure of embryos to implant and of miscarriage are chromosomal abnormalities, which can lead to failed implantation or early loss of pregnancy.  Screening enables us to identify embryos with normal structure and the best chance for successful implantation.

With PGT-A, a biopsy is performed on embryos in conjunction with your IVF cycle, after fertilization but prior to implantation. This allows screening of the embryos for chromosomal abnormalities in order for the best embryo to be chosen and transferred to your womb.

Preimplantation Genetic Testing (PGT-M)

When one or both parents carry a known genetic mutation, they may seek to test their embryos created with IVF in order to select a non-affected embryo for transfer. In some cases, you may be a carrier for a disease without having the disease yourself.

PGT-M tests for:

• Neurofibromatosis (NF-1, NF-2)

• Polycystic kidney disease (PKD)

• Cystic fibrosis (CF)

• Fragile X syndrome

• Marfan syndrome

• Breast cancer (BRCA1 & BRCA2)

• Hemophilia A

• Beta-thalassemia

• Sickle cell disease

• Spinal muscular atrophy (SMA)

• Oculocutaneous albinism

• Primary carnitine deficiency

• Hyper IgM syndrome

• Kell antigen

• Huntington disease (HD)

• Monilethrix

• Torsion dystonia

• Familial hyperinsulinism

• Wolfram syndrome

• Galactosemia

• Myotonic dystrophy

• Alpers syndrome

• Epidermolysis bullosa

• Meckel-Gruber

• Machado-Joseph ataxia

• Wiskott-Aldrich

• Alpha-1-antitrypsin

• Hereditary hemorrhagic telangiectasi

PGT-M is a significantly more complex process than PGT-A since it examines individual genes. It is recommended for couples that have a genetic predisposition and/or have any probability of passing down a known genetic abnormality. Any couple with a family history of aneuploidy (abnormal number of chromosomes) which results in miscarriage, birth defects, or Down Syndrome should be screened. Families that have a history of single-gene defects—such as cystic fibrosis, sickle cell anemia, and muscular dystrophy—should also consider PGT-M testing.

Almost all chromosomal abnormalities can typically be diagnosed by PGT-M. For a more complete list of genetic diseases that can be screened, or to determine if you would benefit from PGT-M, please contact our office.

Genetic Testing Limitations

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The risk of a misdiagnosis resulting in a fetus or baby with chromosome abnormalities after PGT is less than two percent. However, PGT is unable to study every chromosome and does not guarantee the birth of a healthy baby.

Because of these limitations, prenatal testing later in pregnancy is strongly advised in order to confirm the diagnosis and review the number and structure of all the chromosomes.

Also based on cell development, some PGT testing may yield no diagnosis, partial diagnosis or even sometimes result in no normal embryos for embryo transfer. The likelihood that this will happen is often dependent on your age.

Our team will work closely with you to determine whether genetic testing is the right step in your fertility journey. If testing is recommended, we’ll help you understand every aspect of the process—including what to expect, the potential benefits, and the cost. Together, we’ll create a personalized treatment plan that fits your goals, your timeline, and your comfort level, ensuring you can make each decision with confidence and peace of mind.