Preimplantation genetic testing (PGT)

Preimplantation genetic testing (PGT) is the testing of early stage embryos (up to 5 days old) for genetic abnormalities.

The term “preimplantation” is used because testing is performed on embryos during the time before they would naturally implant into the uterus (usually after day 6). PGT is offered as a complement to a patient’s in vitro fertilization (IVF) treatment.

PGT is comprised of two different types of tests, namely preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS).

The Preimplantation Genetic Diagnosis (PGD) test offered by Next Biosciences, EmbryoDx, is a test that is specifically designed to screen embryos for a known mutation that is causing a familial genetic condition, such as Cystic Fibrosis or Tay Sachs.

Used in conjunction with in vitro fertilisation (IVF), PGD is a laboratory test that is used to help detect single gene conditions before embryos are transferred to a patient’s uterus.

Reduce the risk of passing on heritable genetic disorders

EmbryoDx- Preimplantation Genetic Diagnosis (PGD)

  • PGD is for couples who know they are at increased risk of passing on a specific genetic condition.
  • PGD is performed prior to pregnancy on embryos created by IVF to reduce the risk of having an affected child.
  • 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 able to give DNA samples to aid in the test design.
  • 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.
  • Linkage analysis is then used to determine the “genetic fingerprint” of the mutation for that family. It is then used to test each embryo and diagnose if the embryo is affected or unaffected by the specific genetic condition.
  • Our international team performed the first-ever PGD procedure, and has since performed more PGD cases than any other lab in the world. This level of experience allows us to confidently accept even the most complex cases.

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Frequently Asked Questions

Who can benefit from PGD?

PGD testing is appropriate for patients who have a high-risk of passing on a single-gene disorder:

  • 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 (Human Leukocyte Antigen) matching
How is PGD performed?

In order to screen an embryo, a biopsy is performed by an embryologist at your IVF centre. The biopsy removes cells from the embryo, which are then sent to Cooper Genomics (our international partner), where they are screened for the genetic condition of concern.

Is PGD safe?

Yes, scientific studies have shown that embryo biopsies do not add risk factors to the health of babies born after IVF.

Do normal PGD results mean that the embryo is normal?

No test can guarantee that a baby will not have any medical issues. PGD does not test for all genetic and non-genetic problems that may be present in a baby. Genetic counselling before and after testing is recommended.

How long does the PGD process take?

The whole process can take up to 2-3 months to complete.

The initial genetic counselling, testing of family members and test preparation can take up to 6 weeks.

Once the test is prepared, the embryos will have to be biopsied, the sample cells sent to the USA and testing conducted. This can take up to another 6 weeks.

Do medical aids cover this type pf testing?

No, unfortunately the medical aids do not cover this type of testing.

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