What is Preimplantation Genetic Diagnosis?

The embryo—or fertilized egg—is what we evaluate during a test called Preimplantation Genetic Screening (PGS), which detects chromosome abnormalities. In a normal embryo, there are 23 pairs of chromosomes, either 46XX or 46XY. Chromosomes are the tiny structures in each cell that carry our genes. All of us have 23 pairs of them, consisting of one set from our mother and one set from our father. In some instances, when the egg and sperm meet, one or the other is faulty. In that case, the resulting embryo has a chromosomal abnormality and the pregnancy often results in a miscarriage. Mismatched chromosomes account for more than 60 percent of miscarriages.

Today, all of the 23 pairs of human chromosomes may be genetically tested prior to embryo transfer.

The Benefits of Preimplantation Genetic Diagnosis

Preimplantation Genetic Diagnosis (PGD) is a state-of-the-art procedure used in conjunction with In Vitro Fertilization (IVF).  The PGD process allows us to select only the healthiest embryos (fertilized eggs) for transfer into your uterus.

How Preimplantation Genetic Diagnosis Works

Preimplantation Genetic Diagnosis takes place as part of an IVF cycle, during which multiple eggs are produced, retrieved from your ovaries, and fertilized with sperm. Following fertilization, the PGD process involves the following steps:

  1. In the IVF lab, one or two cells are removed from the early embryos (fertilized eggs) as they develop.
  2. These cells undergo genetic analysis to determine which of the embryos are normal and not affected with the specific genetic disease under study.
  3. Typically, after two days PGD test results are available. The embryos that are not affected with the genetic disease are then transferred into your uterus, in hopes of establishing a pregnancy.

Is Preimplantation Genetic Diagnosis Right for You?

Women who undergo PGD often achieve wonderful results and significantly increase their chances of having a healthy baby. You may be interested in PGD if:

  • You are at risk of having children with incurable genetic diseases, inherited chromosomal or genetic abnormalities
  • You have experienced recurrent miscarriages
  • You have experienced repeated failed IVF cycles
  • You are over 40
  • You are hoping to select a particular gender to avoid passing on sex-linked genetic diseases to your child, or for family balancing

By transferring only a single, chromosomally normal embryo, you reduce your chances of having multiples (twins, triplets or more), reduce risks to your health and your baby’s health, and reduce the risk of miscarriage.

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Dr. Mark Johnson explains the benefits of Preimplantation Genetic Screening (PGS) and the link to the loss of embryos at early stages. It's important for patients to screen embryos for abnormalities.

Interested in using Preimplantation Genetic Diagnosis (PGD)?

We are honored that you are considering Arizona Associate for Reproductive Health to help you build your family and welcome you to schedule a consultation or call 480-946-9900.