General Fertility Program

Preimplantation Genetic Diagnosis (PGD)

Preimplantation Genetic Diagnosis (PGD) is the diagnosis of a genetic condition prior to achievement of a pregnancy. This form of genetic testing is performed on eggs or embryos during an in vitro fertilization (IVF) cycle. Therefore, in order to have PGD, one must undergo IVF. PGD was first performed in the early 1990’s as a way for couples to prevent the pregnancy of a child with genetic disease. Currently, we are able to perform PGD for many genetic conditions including single gene disorders and chromosome abnormalities. At the Reproductive Genetics Institute, we have been performing PGD since it became available in 1990. We pioneered the polar body removal technology and are one of the most active centers offering PGD in the world. Our laboratory technicians are well trained in each of the necessary steps.

Through PGD, we are able to test for many different genetic diseases. Some of our families request PGD for a specific genetic condition running in their family, such as Tay Sachs disease, cystic fibrosis, muscular dystrophy or Fragile X syndrome. Complete list of disorders tested. Other couples request genetic testing for chromosome problems, such as Down syndrome, trisomy 18, trisomy 13 and Turner syndrome, in order to improve their chances of getting pregnant during in vitro fertilization. Finally, there are some couples that utilize PGD to decrease their chance of passing down an unbalanced chromosome translocation (if the man and/or the woman has been identified to be a carrier of a balanced translocation).

PGD for Single Gene Disorders

For families at risk for a specific genetic condition, PGD is a way to significantly reduce the risk that a baby will be affected with the condition. PGD allows the laboratory to determine prior to implantation which embryos are likely to be affected or unaffected by a particular genetic condition. Only the embryos that are predicted to be free of the genetic condition are transferred to the woman’s womb. This process greatly reduces the likelihood that a family has to make difficult decisions in a pregnancy (such as therapeutic abortion of an affected pregnancy) following prenatal testing results and may alleviate much anxiety when awaiting results.
Single Gene Disorders

PGD for Aneuploidy

Preimplantation genetic testing is currently the only way to determine if the egg or embryo contains an abnormal number of chromosomes prior to pregnancy. This may not only contribute to the prevention of the birth of children with common chromosomal abnormalities but also may contribute to the efficiency of IVF. PGD for chromosome problems can increase the chance of an embryo implanting, decrease the chance of miscarriage and decrease the likelihood of having a baby with a chromosome problem (such as Down syndrome). In essence, PGD can give your physician another way to determine which embryos are the best for transfer during an IVF cycle.
Aneuploidy Testing

PGD for Chromosome Translocations

It is estimated that 1 in 625 individuals carry a balanced chromosomal translocation or rearrangement. Individuals that carry a balanced chromosomal translocation contain all of their genetic information; however, pieces of some chromosomes have switched places. Individuals that carry chromosomal translocations are typically healthy; however they are at an increased risk for infertility, miscarriage, stillbirth, and/or having a child with birth defects. Preimplantation genetic testing for chromosomal translocations is able to distinguish between chromosomally normal and abnormal embryos. Currently, this is the only way to determine whether the embryo is chromosomally normal or “balanced”, prior to pregnancy.
Chromosome Translocations