For some patients, the need to transfer genetically normal embryos is paramount. To help achieve this, preimplantation genetic screening (PGS), also known as preimplantation genetic diagnosis (PGD), is an option to test embryos prior to transfer.
Who needs PGS/PGD?
PGS/PGD is not necessary or even recommended for all couples. However, in some cases, it is an important tool to assess the genetic makeup of the embryos. Couples in which one or both are carriers of diseases such as cystic fibrosis, Huntington’s disease, sickle cell disease, muscular dystrophy, polycystic kidney, Tay-Sachs, and hemophilia may opt to test embryos prior to transfer to determine if they are positive for the disease. Couples with a single gene defect, a situation in which one partner either has the disease or is a carrier for the disease, can utilize PGS/PGD through a genetic probe to determine if the trait has been passed on. PGS/PGD can also be used for couples with recurrent miscarriage, recurrent IVF failure, women over 40, and genetically normal couples with balanced translocation.
How is it done?
The eggs are first obtained via retrieval and are exposed to sperm. On day 3 after the retrieval, the resultant embryos are observed under the microscope to determine which have fertilized and how many can be biopsied. A single cell from the embryo is removed and sent to the reference lab for genetic testing. By day 5 after transfer, the results are received from the lab and a decision can be made about how many embryos are approved for transfer.
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Tags: Austin IVF, balanced translocation, carrier, cystic fibrosis, day 3, day 5, embryologist, embryos, genetic probe, genetic testing, genetically normal embryos, hemophilia, Huntington’s disease, muscular dystrophy, PGD, PGS, polycystic kidney, preimplantation genetic diagnosis, Preimplantation Genetic Screening, recurrent IVF failure, recurrent miscarriage, retrieval, sickle cell disease, single gene defect, sperm, Tay-Sachs, trait, transfer, women over 40 | Category: IVF, Preimplantation Genetic Screening, Texas Fertility Center |