Genetic testing procedures, known as preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS), allow for a detailed chromosomal evaluation of each embryo to assess genetic health and select the healthiest embryos for treatment.

More About Genetic Testing:

In each cell of the body, 23 pairs of chromosomes are present. When these chromosomes are incorrectly arranged or when an extra chromosome is present, missing or partially altered, a chromosomal abnormality known as aneuploidy is present.

Genetic testing is an additional step in the IVF process and is incorporated after eggs are fertilized and have begun their development as embryos.

Preimplantation Genetic Diagnosis (PGD)

During PGD, 1 to 2 cells are removed from an embryo to test for a specific, known genetic condition. PGD is commonly used when a partner has been diagnosed with or is a carrier of a known genetic condition. After PGD, embryos without the genetic condition are then transferred into the uterus for implantation.

The most commonly tested genetic conditions are Down Syndrome, Cystic Fibrosis, Tay Sachs, Sickle Cell and Thalassemia. However, with advanced technology, PGD is available for most diseases, including rare genetic disorders.

Preimplantation Genetic Screening (PGS)

With PGS, 1 to 2 cells are removed from the embryo and are genetically screened for multiple chromosomal abnormalities. PGS may be utilized if multiple miscarriages have occurred or if the female partner is of advanced maternal age.

Who is a candidate for genetic testing?

We recommend all patients be screened for genetic disease, especially patients at a higher risk for certain genetic diseases due to their ethnic background. In addition, if any of the below items apply, genetic testing may be recommended.

  • Two or more miscarriages have occurred
  • Two or more IVF cycles have not yielded a pregnancy
  • Family history of genetic disease
  • One or both partners are a carrier of genetic disease
  • One or both partners are diagnosed with genetic disease
  • The female partner is of advanced maternal age
  • The male partner is of advanced paternal age