Genetic testing of embryos is an additional step in the IVF process and is incorporated after eggs are fertilized and have begun their development as embryos. By electing to do genetic testing, a patient can increase the chance of implantation and reduce the chance of miscarriage by transferring an embryo that has been tested for chromosomal abnormalities or genetic disorders.

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.

If any of the below items apply to the patient or couple, genetic testing including PGS and/or PGD 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 (36)
    The male partner is of advanced paternal age (40)

Preconception Genetic Carrier Screening
We recommend all patients be screened for genetic disease, especially patients at a higher risk for certain genetic diseases due to their ethnic background. If you and your partner are carriers for the same genetic disease, we will recommend the use of PGD to ensure no affected embryos are implanted. Read more about carrier screening on our blog.

Preimplantation Genetic Diagnosis (PGD)
During PGD, a few cells are removed from an embryo to test for a specific, known genetic condition. PGD is commonly used when one partner has been diagnosed with or both partners are carriers 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 Cystic Fibrosis, Spinal Muscular Atrophy, 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, few cells are removed from the embryo and are genetically screened for multiple chromosomal abnormalities, such as trisomy 21 (Down Syndrome). PGS may be utilized if multiple miscarriages have occurred or if the female partner is of advanced maternal age. This test only determines if there are extra or missing chromosomes. PGS is available to all patients and can help increase pregnancy rates and decrease miscarriage rates. PGS can also be used for family balancing by determining the sex of the embryo with nearly 100% accuracy.

To learn more about genetic testing options, schedule a consultation today.