Preimplantation Genetic Diagnosis Procedures

Preimplantation genetic diagnosis (PGD) combines two technically advanced procedures: in vitro fertilization (IVF) and genetic analysis of single human embryo cells to identify the genetic disorders that can occur naturally in embryos.

Genetic disorders affecting embryos fall broadly into one of two categories: an incorrect number of chromosomes, or specific “point” defects in one of the many genes contained on each chromosome.  The Reproductive Science Center  of New England offers PGD for both chromosome disorders (for patients suffering recurrent miscarriages) as well as specific gene defects.

PGD is of benefit to couples known to be at risk of passing an inherited disorder to their children and possibly in improving the likelihood of a successful pregnancy and birth following IVF. This sophisticated and technologically advanced testing identifies which embryos are free of abnormalities and more able to achieve the patient's goal of a healthy baby. Indications for PGD include:

• Recurrent Miscarriage
• Unsuccessful IVF Cycles
• Unexplained Infertility
• Advanced Maternal Age
• Male Factor Infertility
• Inherited Genetic Disorders

PGD testing requires removal of one or two cells from embryos for diagnosis at a specialized PGD laboratory.  After the biopsy, the embryos continue to develop in the embryology laboratory for the several days it takes to complete these analyses. Based on the PGD lab results, an embryologist can identify one or several embryos most likely to be unaffected by this disorder and available for transfer to the mother's uterus.

This information is provided for general education purposes and is not intended to take the place of a discussion with your physician. If you have questions about any aspect of your health, you are advised to speak with your physician.