Center for Reproductive Medicine - Preimplantation Genetic Diagnosis (PGD)

Preimplantation Genetic Diagnosis (PGD)

Preimplantation Genetic Diagnosis (PGD) is genetic testing of three-day old embryos conceived with IVF to avoid transmission of familial single gene dominant or recessive diseases such as Cystic Fibrosis or Muscular Dystrophy, or structural chromosome defects like translocations or inversions. It may also be used to lower the age associated increased occurrence of miscarriages or chromosomal trisomies like Down syndrome. There are also some data to suggest it may increase the delivery rate in couples with recurrent pregnancy loss.

PGD is still considered investigational, though its use is increasing.

In PGD, the embryologist removes one or two cells from each embryo created in the IVF cycle. The cells are tested for abnormal genes or chromosomes. Only the embryos that have normal cells are transferred into the woman. Although PGD is 99% accurate, misdiagnoses have been made, so couples often confirm the PGD diagnosis with chorionic villus sampling (CVS) or amniocentesis later in the pregnancy. Not all genetic diseases can be tested for, nor can all chromosomes be evaluated.

PGD requires IVF. See IVF Overview.