Pre-Implantation Genetic Diagnosis (PGD)
All couples hope to have a healthy baby. For some couples at risk for passing on a severe genetic disorder, this wish is particularly urgent. Fortunately, if you know that you carry a gene for a serious illness, we may be able to screen for the gene and help reduce or eliminate the risk of your offspring being affected with the illness.
Genesis was the first clinic in BC to successfully perform PGD.
Pre-Implantation Genetic Diagnosis (PGD)
In the past, couples with genetic disorders were only able diagnose the health of their unborn child by amniocentesis. Amniocentesis is performed during the second trimester of pregnancy. Consequently couples faced having to decide whether they would end an established pregnancy. Genesis is now able to offer Pre-Implantation Genetic Diagnosis PGD for couples who carry the genes for serious inherited disorders.
Over the past decade we’ve helped many, many couples achieve pregnancies and deliver healthy babies unaffected by the genetic disorder carried by one of their parents.
What is PGD
This is a sophisticated screening process that enables doctors to evaluate the embryos of couples who carry the genetic markers for certain inherited disorders so that only healthy embryos are selected to be transferred to the woman’s uterus.
Who is PGD for?
PGD is for individuals who carry the genes for a serious inherited disorder, including:
- Huntington disease
- Fragile X
- Thalassemia
- Cystic fibrosis
- Marfan’s syndrome
- A balanced translocation
This is a sample list of common genetic disorders. Over one hundred genetic disorders can be helped with PGD.
What does PGD involve?
PGD involves an IVF procedure where the woman’s eggs are fertilized outside her body in the laboratory. We then biopsy a single cell from three-day-old embryos and transport them overnight to a specialized molecular genetics lab in the USA. The cells are screened for the specific genetic marker using a polymerase chain reaction (PCR) or fluorescent in situ hybridization (FISH). The screening indicates which embryos are healthy, and, from these, we select the embryos to transfer on day five.
Important points to know about PGD
- PGD is a complex and expensive process that requires couples to undergo an IVF/ICSI cycle which they may not otherwise need.
- The process is generally only suitable for couples who find standard prenatal testing and mid-trimester pregnancy termination unacceptable.
- There is also a small risk that there will be no surviving, unaffected embryos for transfer.
- Eligible couples must have a known genetic disorder for which they’ve had genetic counseling.
We can’t screen embryos at random for unspecified abnormalities.
Canadian law prohibits PGD for gender selection for social reasons.
Further information
Feel free to contact us for more information on PGD. Alternately, your physician may wish to contact the Provincial Medical Genetics Program at 604-875-2157 for assistance with investigation and counseling related to specific genetic conditions.