Preimplantation Genetic Diagnosis

Preimplantation genetic diagnosis (PGD) is a genetic testing procedure performed on embryos created with in-vitro fertilization by examining an embryo for a specific genetic mutation known to cause serious disease. It enables people with an inheritable condition in their family to avoid passing it on to their children.

Who should consider PGD?

PGD avoids pregnancy termination as it allows selection of an embryo free of the genetic disease at issue before pregnancy is established. PGD is available for almost any inherited condition for which the exact mutation is known. PGD is best suited for:

Individuals with known single gene disorder, e.g. cystic fibrosis, cystic disease, Tay Sachs disease,
Individuals with a chromosomal rearrangement, e.g. chromosomal translocation in which a segment of a chromosome is found at a location other than its normal place,
Couple with a child known to have a genetic mutation, or
Couples who desire to match stem cells when a family member is in need of a tissue donor.

FAQs

At Dr. Sunita’s IVF we strongly encourage all patients who are interested in PGT to have an appointment with our genetic counselor. This consultation will ensure you fully understand the risks, benefits, and limitations of this testing. The genetic counselor will also determine if there are any additional concerns based on your personal and family history that should be addressed prior to your IVF cycle.

Yes. There are three types of PGT:

Preimplantation genetic testing for aneuploidy (PGT-A): This type of PGT screens embryos for certain types of chromosome abnormalities. One chromosome in each pair is contributed by the egg, and the other is contributed by the sperm. It is common for embryos to have random chromosome abnormalities such as a missing or extra chromosome (aneuploidy). These chromosome abnormalities happen by chance and are not typically inherited from a parent or donor. Embryos with aneuploidy are more likely to result in miscarriage or a failed IVF cycle. Less commonly, aneuploidy may result in the birth of a baby with a chromosome condition such as Down syndrome or Turner syndrome.
Preimplantation genetic testing for monogenic disorders (PGT-M): This type of PGT is performed when a patient has an increased risk for a specific genetic condition to occur in his or her embryos. PGT-M is appropriate when an individual is affected with a genetic condition that could be passed on to his or her children, for women who are carriers for an X-linked condition, or when an individual and their partner or donor are both carriers for the same autosomal recessive condition.
Preimplantation genetic testing for structural rearrangements (PGT-SR): This type of PGT is performed when a patient or their partner has a rearrangement of their own chromosomes such as translocation or inversion. A person with a translocation or inversion is at increased risk to produce embryos with missing or extra pieces of chromosomes. Embryos with missing or extra pieces of chromosomes are more likely to result in miscarriage or a child with serious health issues.