Preimplantation Genetic Diagnosis (PGD)

Individuals and couples who are unfortunate enough to live with genetic diseases often have reservations about having children, as they fear that their offspring may inherit the disease. But thanks to the progress of assisted reproductive technology, they now have the option to reduce the risk of transmitting the disease to their future children. Preimplantation genetic diagnosis (PGD) testing, when used with in vitro fertilization (IVF), is a service that can be utilized for this purpose. In this article, we will discuss what PGD testing is and how it can be advantageous.

What Is Preimplantation Genetic Diagnosis (PGD) testing?

PGD testing is a medical procedure that takes place after egg retrieval and fertilization, but before embryo transfer in an IVF cycle. It involves a thorough examination of the embryos by fertility specialists and doctors to identify genetic abnormalities that may be present in embryos created during the IVF process.

This type of testing is primarily used to detect specific genetic diseases that could potentially be inherited by the offspring. By separating embryos that have problematic genes from those that do not, doctors can minimize the risk of genetic diseases being transmitted to the child in the event of a successful pregnancy.

Diseases commonly diagnosed through PGD include:

  • BRAC 1 & BRAC 2 genetic mutations
  • Cystic fibrosis (CF)
  • Duchenne muscular dystrophy
  • Fragile X syndrome
  • Hemophilia A
  • Huntington’s disease
  • Myotonic dystrophy
  • Sickle cell anemia
  • Spinal muscular atrophy
  • Tay-Sachs disease
  • Human immunodeficiency virus (HIV)

Candidates for PGD testing

PGD testing is aimed at reducing the probability of transmitting genetic abnormalities or chromosomal disorders to your offspring. In case you and your partner share a recessive disease, the likelihood of inheriting the disorder in reproduction is 25%. It is essential to undergo PGD testing to minimize the risk of genetic disorders in your baby.

PGD testing is recommended for intended parents with known diseases, such as:

  • Women older than 37
  • Intended parents with known inherited genetic diseases such as Cystic Fibrosis,
  • History of recurrent miscarriages due to chromosomal abnormalities.

The benefits of PGD testing

The main reason why a lot of intended parents are choosing PGD is because it can lower the possibility of passing on specific genetic diseases to their babies during IVF. By using PGD testing, you and your doctors can:

  • Identify and avoid fertilizing embryos that carry one (or more) genetic disease and conditions.
  • Have the opportunity to conceive and lower the risk of passing their genetic disorders to their children.
  • Improve your chances of a successful pregnancy by transferring the strongest, best embryos into the uterus (thus preventing genetically flawed embryos from being transferred to the uterus).
  • Take time to rethink your decision regarding pregnancy given the embryos available, as the occurrence of implantation is not yet known.
  • Identify the gender of embryos and select which gender to implant (also known as gender selection at many fertility clinics). However, keep in mind that playing with genes doesn’t guarantee that you will get the gender that you are hoping for.