Preimplantation Genetic Diagnosis (PGD)
Preimplantation genetic diagnosis (PGD), also called preimplantation genetic testing for monogenic/single gene defects (PGT-M), is a procedure performed in conjunction with in vitro fertilization (IVF) to test embryos for genetic abnormalities. PGD allows us to test embryos from patients at high risk for genetic disease prior to conception; this significantly increases their chances of having a healthy baby.
Many genetic diseases are sex-linked, meaning they can only be transferred to a child of a particular gender. Hemophilia is an example of a sex-linked disease that is transferred to male children. In cases where the risk of transferring hemophilia is present, PGD can be used to transfer female embryos only to the uterus, thus eliminating the chance for hemophilia in the child.
Who it’s for
You may be a candidate for PGD if:
- You or your partner have a genetic disease
- You and/or your partner are carriers of an abnormal gene
- You and/or your partner have a chromosome abnormality such as translocation (PGT-SR)
- Other members of your family carry an abnormal gene
Northwell Health Fertility experts discuss what makes PGD and PGS so revolutionary—and how they use these procedures to significantly increase their patients’ chances of having a healthy baby.
Jennifer and Jason Ferrera share their success story. Preimplantation Genetic Screening (PGS) involves testing individual cells removed from embryos before their replacement back into the uterus, with the intention of selecting normal embryos.