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ISIS Regional Fertility Centre

2180 Meadowvale Blvd.
Mississauga
Ontario L5N 5S3
Tel: 905-816-9822
Fax: 905-816-9833


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Preimplantation Genetic Diagnosis (PGD)
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PGD is a procedure that is used to do chromosome analysis prior to embryos being placed into the uterus. It involves the analysis of either polar bodies, extruded from eggs during meiosis, or single cells (blastomeres) removed from embryos when they are at the 8-cell stage of development after fertilization. Analysis is performed by a specific laboratory process called PCR when assessing for monogenetic diseases, by FISH when screening for aneuploidy (abnormal number of normal chromosomes) or assessing the simple karyotype makeup.

In order to have PGD as part of the IVF treatment, the patient undergoes ovulation stimulation as previously described for IVF. The eggs that have been retrieved are then fertilized by ICSI. Blastomeres (single cells


from the embryo) are then removed from the 8-cell embryo for analysis and sent to a certified lab for analysis. The removal of 1 or 2 cells for analysis does not impair either implantation rates or pregnancy rates. Analysis takes up to 2 days to obtain the results. Selection of the embryos to be returned to the body are based on the PGD results.

Over 1000 babies world-wide have been born after PGD. To date there are no reports of increased fetal malformation rates or other identifiable problems due to the process of PGD.

There are errors of analysis associated with the process of PGD. This may be due to various reasons including variations of the chromosomal makeup with individual cells within the embryo (called mosaicism). Errors due to mosaiciscm of the embryo may occur in up to 4% of cases. There may also be a small occurrence of false positives and false negatives in analyses of the cells. It is recommended that patients who undergo PGD still consider amniocentesis during pregnancy to confirm the results.

There are different reasons to consider PGD as part of treatment. Original development of PGD was to reduce the transfer of specific single gene disorders and inheritable gene disorders.

Other common reasons why couples may choose to include PGD as part of their treatment are the following:

• To reduce using abnormal embryos that can result when the eggs are from a patient of advanced maternal age (> age 37) (called preimplantation genetic screening).

• Couples who have been experiencing recurrent miscarriage where it may suspected that abnormal embryos are leading to this problem period.

• Couples who have been experiencing recurrent implantation failure during IVF for unknown reasons.

It is not clear in these last indications if PGD is truly beneficial as research studies have given conflicting results.
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Our fertility specialists helped many patients from Kitchener, Guelph, Hamilton, Burlington, Mississauga, Oakville, Milton, Brampton, Toronto, and throughout Ontario.