Embryo biopsy (also known as blastomere biopsy) is a technique that is performed to remove one or two cells (blastomeres) from a 6- to 8-celled embryo for the purpose of preimplantation genetic diagnosis.

On the third day following fertilization, the embryo is at the cleavage stage, and a cell may be carefully removed for genetic analysis. With the embryo maintained in position by gentle suction from the holding pipette, an opening in the outer shell called the zona pellicuda is made using a micro needle. Afterwards a new micropipette is used to remove a cell by means of aspiration. At this early stage of embryo development, all of the cells have the same potential for development, therefore, removal of a cell from the embryo is not detrimental and the embryo should continue to develop following the procedure. The cells that have been removed are then tested for a particular genetic disorder.

PGD is offered to couples that are at a high risk of producing offspring with genetic disorders and to those who wish to avoid the termination of an affected fetus following prenatal diagnosis. The procedure is offered to couples who have known genetic diseases detectable by DNA analysis. RGI's physicians have already performed thousands of clinical cycles involving preimplantation diagnosis for cystic fibrosis, Tay-Sachs disease, alpha-a-antitrypsin deficiency, Alport syndrome, sickle call disease, thalassaemia, haemophilia A and B, and other X-linked and chromosomal disorders. As a result of this work, hundreds of patients achieved pregnancies, resulting in the birth of children free of the genetic disorder of concern.

Next Steps:

Please review our PGD information packet and pamphlets and contact our genetic counselors with any questions or inquiries regarding our PGD program.