Preimplantation genetic diagnosis (PGD) is a screening test used to determine if genetic or chromosomal disorders are present in embryos produced through in vitro fertilization (IVF). PGD screens embryos before they are transferred to the uterus so couples can make informed decisions about their next steps in the IVF process. Embryos unaffected by the genetic or chromosomal disorder can be selected for transfer to the uterus.

For couples undergoing IVF, PGD may be recommended when:

  • One or both partners has a history of heritable genetic disorders
  • One or both partners is a carrier of a chromosomal abnormality
  • The mother is of advanced maternal age
  • The mother has a history of recurrent miscarriages

Thousands of clinical PGD cycles have been performed worldwide, resulting in the birth of hundreds of healthy babies.

PGD does not replace prenatal testing, such as chorionic villus sampling or amniocentesis. It provides diagnostic information based on the analysis of a single cell, so prenatal testing is still recommended and currently remains the standard of care.

Watch Anuja Dokras, MD, PhD, Director of the Penn Polycystic Ovary Syndrome Center and Medical Director of the Reproductive Surgical Facility, discuss PGD embryo screening.

In This Section

Treatments and Procedures

Learn the step-by-step process for identifying genetic or chromosomal disorders in embryos via preimplantation genetic diagnosis.

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