Preimplantation Genetic Diagnosis / Preimplantation Genetic Screening

Preimplantation testing of embryo(s) can be performed in order to test for known genetic disorders that a person or couple may carry.  This process is called preimplantation genetic diagnosis or PGD.  Testing can also be done to screen the embryo(s) to determine if it carries a genetic imbalance such as trisomy 21 which leads to Down syndrome.  This process is called preimplantation genetic screening or PGS.  PGS is also sometimes referred to as 24 chromosome screening.     

How is PGS/PGD done?

The first step in a PGS/PGD cycle is to obtain embryos. Usually we create embryos by doing an in vitro fertilization (IVF) cycle with intracytoplasmic sperm injection (ICSI). Additionally, if a couple already has cryopreserved (frozen) embryos from a previous IVF with ICSI cycle those embryo(s) can be used in a PGD/PGS cycle. Once the embryos are obtained they are biopsied. This means that several cells of the embryo(s) are removed.  In most cases, after the embryo(s) are biopsied they are cryopreserved. The cells are then sent to a PGS/PGD lab were they are tested.  The specific tests performed on the cells and how that testing is accomplished is determined on a case by case basis based on the needs of our individual patients. We look at the most cost effective options to meet our individual patients’ needs. Once the test results are obtained then the embryo(s) with normal test results are thawed and transferred to the patient’s uterus.   

Who can benefit from PGS/PGD?

Patients who may benefit from PGD include anyone with a known genetic disease or mutation that may lead to a disease. Determining who may benefit from PGS is more controversial. Patients with recurrent pregnancy loss, older patients who are at increased risk for a genetically abnormal child and patients with a known chromosomal translocation etc. may benefit from PGS.  In addition, embryos that are screened with PGS and found to be normal have a higher implantation rate than unscreened embryos. Therefore, some patients opt for PGS in order to maximize their chance of success. Since the implantation rates with screened embryos is higher, using PGS, we can transfer less embryos and still have a high chance of success. This is a very appealing option for many patients because transferring less embryos minimizes the chance of a multiple pregnancy. Therefore, some experts advocate using PGS for patients who desire a single embryo transfer.  Ultimately, the decision whether or not to pursue PGS/PGD is an individual decision that must be made with a knowable health care provider.  

Can PGS/PGD be used to tell the sex of an embryo?

Yes, PGS/PGD can be used to determine the sex of an embryo. This can be particularly helpful because there are some diseases that only occur in male or female children.  In these situations the technology is used to  select a male or female embryo in order to minimize the chance of having a child affected by a specific disease. Whether or not to use the technology to determine sex outside of this indication is more controversial. Anyone who is considering sex selection should discuss the option with a knowable health care provider to ensure that they understand the benefits and limitations of the technology.    

How much does PGS/PGD cost?

The cost of PGS/PGD can vary significantly depending on what testing is required. The good news is that in Illinois, depending on the indication, insurance may cover the cost of the testing. If the testing is not covered, as a general estimate, it runs around $4,000 to $6,000.     


To learn more about PGD and/or PGS, contact the Advanced Reproductive Center. To schedule an appointment call us at 815-229-1700, or fill out the form below and we will contact you.

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