One way at-risk couples can increase their chances of having a healthy baby is through pre-implantation genetic diagnosis (PGD). Fertility specialists use PGD in conjunction with in vitro fertilization (IVF) to assist in choosing embryos with the best chance of developing into a healthy baby.

Who can benefit from PGD?

PGD is often used by couples who have a risk of passing on a serious genetic disorder such as cystic fibrosis, sickle cell disease, Fragile X syndrome, muscular dystrophy, or Huntington’s disease. PGD can also identify chromosomal abnormalities like Down Syndrome or Klinefelter Syndrome, and sex-linked diseases like x-linked recessive hemophilia.

Even if you do not have a family history of a genetic disorder, your doctor might recommend PGD if you are a woman who:

  • is age 35 or over
  • has experienced recurrent pregnancy loss
  • has had more than one failed fertility treatment

How is PGD performed?

Preimplantation genetic diagnosis starts with a normal IVF procedure, including egg retrieval and fertilization in a laboratory setting. At about 5 days’ development, a few cells are microsurgically removed from the embryos, and the embryos are safely frozen in the normal IVF process.

Over the next week or two, the harvested cells are evaluated for abnormal genetic material. Once a determination is made, healthy embryos can be chosen for implantation. Any additional healthy embryos are frozen for future use.

Benefits of PGD

  • PGD can test for more than 100 different types of genetic disorders
  • Because PGD testing takes place in the laboratory, couples are able to make a decision about pregnancy before the embryo(s) are implanted
  • For women over 35, where every month counts, PGD can stack the odds in favor of a healthy pregnancy early on, saving precious time
  • PGD allows some couples with a history of serious genetic disorders to pursue having biological children when they otherwise might not have.

Special considerations of PGD testing

  • While PGD is highly effective (approx. 98% success rate), it cannot completely eliminate the risk of an embryo developing a genetic disorder. Additional prenatal testing may be recommended. Talk to your doctor about any specific concerns.
  • Some diseases, while genetically present, may not necessarily develop or may not develop until adulthood. Your doctor can discuss with you the probability of a specific genetic disease developing later in life.
  • Embryos that are identified to have genetic abnormalities are destroyed. Some people have strong feelings about the destruction of human life in any case.
  • While PGD can be used for gender selection, some people have ethical concerns surrounding this practice.
  • PGD is not used to select for physical characteristics, such as height, hair or eye color.
  • PGD is not a replacement for regular prenatal testing or prenatal care.

Call our office for more information on whether PGD might be right for you.