Genetic Testing Specialist Tina Koopersmith
Discusses The Genetic Testing Process
Preimplantation genetic diagnosis, or PGD, is genetic testing used to diagnose genetic diseases present in an embryo. This type of DNA testing is utilized as a precautionary measure to avoid passing down a severe inherited illness to a child.
For instance, with diseases inherited in a recessive fashion, parents are at risk for having a child with a genetic disease if both parents carry a genetic mutation for this same disease. Depending on the disease tested, it could be associated with severe disability or even the premature death of the child. In this case, the couple may want to opt for PGD to test their embryos. Embryos can be:
- An unaffected carrier for a genetic disease
- An affected embryo with a genetic disease
- A normal embryo
In other instances, PGD is done for a dominant gene disorder. In this case, the affected parent has a debilitating disease and does not want to pass that same disease down to their child. In this case, embryos will be either affected or unaffected and normal.
At present, PGD requires an IVF cycle. Once an embryo is grown in the lab through IVF and reaches the blastocyst stage (typically 5-7 days), it can be biopsied and tested for the mutations in specific genes that were identified in one or both parents.
PGD is different from PGS, although the terms are often used interchangeably. Preimplantation Genetic Screening, or PGS, is the process of counting chromosomes in embryos to ensure that the embryo is balanced and is either a normal girl (46 XX) or a normal boy (46 XY). Many couples choose to screen their embryos made in an IVF lab to increase their chances of successful implantation. Although this process is not 100% accurate and does not guarantee a delivery, embryos tested via PGS have very high implantation and pregnancy rates (over 70%).
Together We'll Find A Way
By using PGD and/or PGS during IVF, our experienced fertility specialists can assist you and help improve the odds for a successful implantation and a healthy baby.
We look forward to meeting you, learning about you, and helping you to be healthy and happy. To schedule an appointment you can call the West Coast Women's Reproductive Center at (818) 616-9277 or make an appointment online.