Preimplantation Genetic Diagnosis (PGD)
for Single Gene Disorders
WHAT IS PREIMPLANTATION GENETIC DIAGNOSIS (PGD)?
Preimplantation Genetic Diagnosis, or PGD, is a specialized laboratory test used during in vitro fertilization (IVF) to evaluate one cell from an embryo for specific genetic diseases. Each embryo created in an IVF cycle is tested separately. Embryos without the specified genetic diseases or chromosome abnormalities are transferred to the mother’s uterus. Therefore, PGD reduces the possibility that the baby will have the genetic disease.
WHAT WE MEAN BY “GENETIC DISEASE”
A genetic disease is caused by a change in a gene, called a mutation, that causes the gene to not function properly. Some genetic diseases can be very severe, resulting in death at an early age, and some can be less serious. In most cases these diseases are inherited and passed through families. Examples include,
- cystic fibrosis,
- Tay-Sachs disease, and
- certain types of muscular dystrophy.
Who Should Pursue PGD Testing?
PGD is for couples who are at risk of having a child with an inherited genetic disease – this means that both the prospective mother and father are healthy but are carriers of disease gene mutations, or, either the prospective mother or father is affected with a genetic disease that can be passed to his or her children. Couples know they are at risk of having a child with a genetic disease based on testing performed by their doctor. GSN does not do this assessment. If you know you carry a gene mutation and are at risk of having an child, you will need to have a report from the lab that did your testing before you can proceed with PGD.
Find a list of GSN’s Partner IVF Clinics offering Single Gene Testing with Concurrent Aneuploidy Screening nearest you.