Preimplantation Genetic Diagnosis

Preimplantation Genetic Diagnosis (PGD) is an early prenatal diagnosis, designed for couples at risk of transmitting inherited disease to their children because of chromosomal abnormalities. The major advantage of PGD is that it allows couples to identify embryos that may be carrying genetic disorders and minimise the risk of a difficult choice of abortion, or possible miscarriage during the pregnancy.

Structural chromosomal abnormalities can include a number of different chromosomal defects and usually occur when there is an error in cell division.

Patients having PGD will undergo routine IVF to generate multiple embryos to increase the chance of obtaining chromosomally normal embryos. Both partners will have a cytogenetic karyotype test. The laboratory will then analyse your case over a period of two to three months, and both partners will meet with a genetic counsellor before commencing a typical IVF cycle.

Once the embryos are created, the laboratory will perform an embryo biopsy procedure using state-of-the-art laser drilling to create access for the removal of single cells from each embryo for testing. Laser drilling allows for higher accuracy cutting when accessing cells from within the delicate embryos.  Following a diagnosis period of 48 hours, approved embryos (up to two) are then transferred into the womb.