Preimplantation genetic diagnosis (PGD) is a diagnostic test used in conjunction with in vitro fertilization (IVF) performed on embryos to assist detection of known genetic diseases or chromosomal abnormalities. Since it was first performed in 1989, PGD has become the most important advance in genetic testing to determine whether genetic abnormalities are possible with a given pregnancy. Couples known to have serious genetic disorders or who carry a genetic disease have successfully decreased the likelihood of having a child with these life-threatening afflictions.

A single cell is removed from an embryo and analyzed for a specific abnormality. PGD allows the professional embryology team at the Reproductive Science Center of New England to identify embryos with irregularities. By transferring only non-affected embryos to the mother’s uterus, the probability that couples will have a healthy child increases.

Prior to the use of PGD, genetic disease diagnosis was limited to testing a fetus through amniocentesis or chorionic villus sampling. PGD provides a couple with more conclusive information about the health of the fetus. Knowing the genetic health of the fetus provides a couple with the tools to make informed decisions about the path a pregnancy may take.