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Pre-implantation Genetic Diagnosis

Waterstone Clinic first introduced Pre-implantation Genetic Diagnosis (PGD) in 2012. We achieved the first successful birth following PGD in Ireland. PGD is specifically for couples who are known to be at risk of, or have, a specific inherited condition. It is laboratory technique following IVF/ICSI treatment that enables those couples to reduce the risk of passing the condition on to their children.

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Who is it for?

Genetic testing of embryos may be recommended where:

  • Couples already have a child with a serious genetic condition
  • Couples have a family history of a serious genetic condition or have the condition themselves
  • Couples have found out that they are both carriers for the condition

We carry out PGD for single gene disorders including:

  • Cystic Fibrosis
  • Fragile X syndrome
  • Duchenne Muscular Dystrophy
  • Myotonic dystrophy
  • Tay- Sachs disease
  • Beta-thalassaemia
  • Haemophilia A
  • Sickle cell disease

What does it involve?

The PGD process involves generating a number of pre-implantation embryos through IVF treatment and checking the genes of those embryos for the condition involved. PGD involves one extra step within an IVF cycle.

  • Following egg collection, the eggs are fertilized with prepared sperm to create embryos.
  • These embryos are cultured and monitored for development.
  • After five days, embryos which appear to be developing normally are suitable for biopsy and genetic analysis.
  • The genetic analysis of each removed cell takes place at a specialist genetic centre in the UK.
  • The embryo(s) that are diagnosed as not affected with the specific condition are then selected for transfer into the womb or cryopreserved for use in a future frozen embryo transfer cycle

Important limitations of PGD

We recommend that patients who become pregnant from PGD have prenatal testing using CVS or amniocentesis. Prenatal testing will reveal whether or not the PGD testing analysis was correct and confirm whether or not the foetus has been affected by the specific genetic disease. Of those embryos diagnosed, PGD for a single gene disorder detects about 98/99% of affected embryos. This means that misdiagnoses can occur. PGD is not a substitute for prenatal testing.

PGD is aimed at reducing your chances of having a child with a specific genetic disease, however it does not test for all birth defects.

For further information about the PGD programme please contact us.

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