Preimplantation Genetic Testing PGD

Preimplantation Genetic Diagnosis Testing – PGD Testing



Your husband’s thick hair. Your wife’s blue eyes. Each partner contributes unique genes that contribute to your offspring’s characteristics. These genes, however, are not always desirable. You could be a carrier of a harmful genetic disorder. Certain conditions make pregnancy risky, and bad genes could pass on to the unborn child. Preimplantation genetic testing can help couples determine the best options.


How can preimplantation genetic testing help?

The purpose of preimplantation genetic testing is to screen for genetic conditions that could affect the unborn child. This is not one simple test. Also called preimplantation genetic diagnosis (PGD), testing of this nature involves a combination of techniques administered by expertly skilled embryologists, who are scientists educated in embryo development. PGD allows the fertility specialists to view the genetic makeup of the embryo created with in vitro fertilization (IVF).


How does PGD work?

Preimplantation genetic testing first starts with an embryo created in the laboratory setting through in vitro fertilization. On day three of the embryo development, a cellular biopsy is done. Removing one cell for analysis does not harm the embryo at this stage of development. This cell is evaluated using fluorescence in situ hybridization (FISH), which involves DNA analysis.


What chromosome glitches are detected using preimplantation genetic diagnosis?

PGD is recommended for patients who are at risk for:

  • Tay Sachs disease
  • Cystic fibrosis
  • Sickle cell anemia
  • Duchenne muscular dystrophy
  • Hemophilia
  • Cancer predisposition genes (such as BRCA1)
  • Beta-thalassemia
  • Fragile X syndrome
  • Huntington’s disease


What can happen with the transfer of a chromosome abnormality to the embryo?

The transmission of a chromosome abnormality to the embryo could result in miscarriage, low implantation rate, or birth of an infant with a devastating genetic disorder. PGD does not guarantee a healthy baby, but it greatly increases the rate of a successful pregnancy. However, the couple could get a false positive result when using preimplantation genetic testing for chromosome abnormality screening.


Can PGD be used for selecting the unborn baby’s sex?

Preimplantation genetic diagnosis is around 99% accurate for selection of baby’s gender. However, most fertility clinics do not use PGD only for family balancing. According to the American Society for Reproductive Medicine (ASRM), PGD for sex selection is only recommended to avoid birth of children with genetic disorders.


Who needs preimplantation genetic diagnosis?

PGD is not right for every couple. Our fertility specialists use preimplantation genetic testing if you:

  • Are a woman over the age of 35 years
  • Have had a prior pregnancy with chromosome abnormality
  • Have experienced several miscarriages
  • Had trouble conceiving due to low sperm count
  • Have failed on several IVF cycles
  • Have an X-linked genetic disease


Does insurance pay for preimplantation genetic testing?

Approximately one-fourth of all insurance plans cover PGD. The purpose of preimplantation genetic testing plays a role in whether or not the health plan will cover it. The cost of PGD is between $5,000 to $10,000, depending on what all is involved.


What risks are associated with preimplantation genetic diagnosis?

As with all fertility treatments, PGD carries a few risks. The disadvantages include:

  • PGD does not eliminate the risk of conceiving a child with genetic diseases altogether.
  • The destruction of an embryo may be viewed to some couples as destruction of human life.
  • PGD is not used to replace prenatal testing.