What Do We Need to Know About Preimplantation Genetic Diagnosis?
by Susan Vadaparampil, PhD and Gwen Quinn, PhD of The Moffitt Fertility Preservation Research Group Preimplantation Genetic Diagnosis (PGD) is a medical procedure that allows people who carry a disease-causing hereditary mutation to have children who are free from the specific mutation that causes the disease. The procedure for PGD includes in-vitro fertilization (IVF)—a fertility treatment where the women’s eggs are removed and fertilized in a test tube. When the embryos reach a certain size, one cell is removed and is tested for the hereditary disease in question. Once the genetic status is determined, the parents can decide which embryos they want implanted. PGD has been used for hereditary diseases such as cystic fibrosis and Huntington’s disease for over a decade. Recently, there has been some debate among the medical community regarding its use for selecting embryos free of gene mutations such as BRCA1/2. Central to this debate is the issue of whether or not this procedure should