What it is

For people who know they are at increased risk of passing on a specific genetic condition, PGD, or preimplantation genetic diagnosis, can be performed prior to pregnancy to greatly reduce the risk of having an affected child. PGD for single gene disorders involves testing embryos created through in vitro fertilization (IVF) and then transferring unaffected embryos.


PGD is appropriate for people who are at high-risk of passing on a specific single gene disorder. You may consider PGD if:

  • You and your partner are carriers of the same autosomal recessive condition (e.g. Cystic fibrosis)
  • You are a carrier of an X-linked condition (e.g. Duchenne Muscular Dystrophy)
  • You or your partner have an autosomal dominant condition (e.g. Huntington disease)
  • You or your partner have a mutation associated with a hereditary cancer syndrome (e.g. BRCA1 & 2)
  • You had a child or pregnancy with a single gene disorder
  • You want to perform HLA matching

How it works


PGD tests are created uniquely for each family. PGD can be performed for nearly any single gene disorder as long as the specific familial mutation has been identified and appropriate family members are available for test preparation.

Preimplantation Genetic Diagnosis can be performed for over 99% of inherited single gene disorders and identifies affected and unaffected embryos with 95% accuracy

*Internal CooperGenomics data

The PGD Process

1. Case Review

Prospective parents speak with a genetic counselor and discuss if additional genetic testing of the couple or other family members is required.

2. PGD Test Preparation

The PGD lab designs a test unique to each family.

3. IVF

In vitro fertilization is performed and the resulting embryos are incubated.

4. Embryo Biopsy

An embryologist carefully removes a small cell sample from each embryo.

5. PGD

Samples are sent to the PGD laboratory, testing is performed, and results are released to the IVF center.

6. Embryo Transfer

If available, an unaffected embryo is transferred. Remaining embryos can be frozen for future use.

PGD Technology

If both parents are a carrier of a genetic condition, PGD testing helps identify embryos that are affected, a carrier, or unaffected by that condition.

PGD testing involves a close examination of both the mutation an individual carries and the area of the chromosome surrounding it, shown above as the colored segment of each chromosome. Each PGD test design is unique and specific to the family, so DNA samples from both partners, and often additional family members, will be requested in order to design a test. Then, linkage analysis is used to determine the “genetic fingerprint” of the mutation and diagnose each tested embryo as affected or unaffected.