Preimplantation Genetic Diagnosis

Testing embryos for specific inherited genetic diseases is referred to as Preimplantation Genetic Diagnosis or PGD.

This testing begins with the couple sending their blood to one of our collaborative laboratories in order for that lab to determine the mutations for the disease that are specific to that couple. With this information, probes are developed to detect those mutations. Once this is complete, the testing laboratory notifies our IVF team and the couple can begin their IVF cycle. The resulting embryos undergo embryo biopsy on either the third day of embryo development or when the embryo reaches a stage called the “Blastocyst”stage.

For a day three biopsy, a single cell is removed from each embryo and sent to the collaborative laboratory for testing. For a trophectoderm biopsy, several cells are removed from each embryo from the trophectoderm and sent to the collaborative laboratory for testing. Trophectoderm testing can occur on day five, six, or seven.

Using the probes that were designed for the couple, the lab is able to determine which embryos are free of the mutation and thus will not have the disorder, which are carriers of the mutation (meaning that they may pass the mutation to their offspring, but may not be affected by the disease – depending on the disorder), and which embryos will be affected with the disorder. The results from the genetic testing are provided to Ovation Fertility Austin on the fifth day of embryo development for day three biopsies. Using these results, embryos are selected for transfer to the patient’s uterus following a day three biopsy on day five.

For trophectoderm biopsies, results are usually provided to Ovation Fertility Austin within two weeks of the biopsy date. Therefore, any embryo biopsied will then subsequently be frozen for a frozen embryo transfer at a later date once Ovation Fertility Austin has the results of the biopsy.