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Single Gene Preimplantation Genetic Diagnosis (PGD)

One single gene test delivers more.

If you and/or your partner are at risk of passing on an inherited genetic disorder, you can minimize the risk of passing on the disorder by using in-vitro fertilization (IVF) and Preimplantation Genetic Diagnosis, or PGD.  To ensure the most accurate PGD results, Natera uses a proprietary technology called Parental Support™, which evaluates multiple genetic markers flanking the gene mutation, as well as the entire chromosome carrying a gene mutation. Parental Support also matches embryo samples to DNA samples taken from the parents to confirm that the DNA being tested is from the embryo, with results that are typically >99% accurate. All Natera single gene tests also screen for Trisomy 21, or Down syndrome, and you have the option of simultaneously adding screening of all of the rest of the chromosomes so that your doctor will be able to select the embryos for transfer that will improve your chances for implantation.

A single gene disorder is a genetic disease caused by a change, or mutation, in a particular gene, causing that gene to function improperly or not at all. Common single gene disorders include cystic fibrosis, hemophilia, and Tay-Sachs disease. Single gene PGD is a specialized laboratory test used during in vitro fertilization to test embryos for a specified genetic disease. This test will help your IVF doctor to determine which embryos are free of the particular genetic disease, so that they can be selected for transfer.

With single gene PGD from Natera, your doctor will be able to select the embryos free of the identified mutation, increasing the chance for a healthy pregnancy.

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Is testing right for you?

Couples who are at known risk of having a child with a specific inherited disorder are good candidates for single gene PGD.  Single gene testing can be particularly beneficial if:

  • You have a child with an inherited genetic disorder
  • You have a family history of an inherited genetic disease
  • You and your partner are both carriers for the same genetic disorder
  • You or your partner is affected with a specific genetic disorder

Before proceeding with PGD, please note:

Carrier testing or mutation analysis for the specific single gene disorder must be performed in a genetics laboratory prior to PGD.

  • You will need to obtain the report from the lab that did your genetic testing.
  • If the gene mutation responsible for the genetic disease in your family cannot be identified through genetic testing, then single gene PGD cannot be performed.
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Next steps

  1. Find a Natera partner IVF clinic.
  2. Ask your physician for Natera testing and have him/her send in a referral and your mutation report.
  3. Complete your sample collection kit and send to Natera.
  4. Schedule a genetic counseling session.

 

More information on the process