How is Preimplantation Genetic Diagnosis or PGD biopsy done in the IVF lab?

Preimplantation Genetic Screening (PGS), sometimes referred to as Preimplantation Genetic Diagnosis (PGD), is a technique used in conjunction with IVF in order to increase the likelihood of transferring chromosomally normal embryos into your uterus. Preimplantation Genetic Diagnosis is indicated when a couple carries a gene for a specific genetic disorder. Some examples include cystic fibrosis, Huntington's disease, sickle cell disease, muscular dystrophy, polycystic kidney, Tay-Sachs, and hemophilia. Patients may know that they are at risk for certain genetic disorders, either because one of the couples has the disease or because one member of the couple is known to be a carrier for a disease. This situation is called a "single gene defect" These couples can have their chromosomes evaluated in order to determine which alleles (certain components of a gene) that they carry that can lead to the development of an embryo with the specific disease. The couple submits either a blood or saliva sample to an outside reference laboratory that collaborates with Austin IVF in order to determine the presence or absence of the abnormal gene. Once this has been confirmed, the reference lab utilizes the genetic material from the couple's blood to create a genetic probe. This probe allows the identification of the same abnormality from the DNA within a single cell that is removed from each embryo in the IVF lab.

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• pgd
• genetic
• diagnosis