Genetic Investigations

Preimplantation Genetic Diagnosis (PGD)

Preimplantation Genetic Diagnosis (PGD) is available both privately and on the NHS.

Patients must meet certain criteria, particularly when going through the NHS where they are only entitled to have three cycles of PGD. Their entitlement depends on them meeting the criteria listed below.

Patients for PGD must be seen by a clinical genetics specialist and referred, it is recognized that there are very good and highly successful pregnancy rates possible these days with up to 50% success after single embryo transfer

Pre-implantation genetic diagnosis (PGD or PIGD) involves doing a genetic test on an embryo prior to implantation. It is used in conjunction with In Vitro Fertilization (IVF) as a form of prenatal diagnosis.

PGD is used to test for known genetic disorders in a family. The main benefit of PGD is that it can avoid selective pregnancy terminations as the embryo is tested before implantation making it very unlikely that the baby will be affected by the genetic disorder in the family.

Pre-implantation Genetic Screening (PGS) is used to test an embryo for any evidence of copy number changes or abnormalities but does not specifically look for a mutation in a gene.


Managed criteria for NHS English funding for PGD for a couple

  • The couple should be at risk of having a child with a serious genetic condition.
  • The couple should be referred to the PGD provider by a clinical genetics service having received advice about the procedure.
  • The risk of conceiving a child affected by serious genetic conditions should be 10% or greater.
  • The female partner should be under 40 years of age.
  • The female partner should have a BMI of more than 19 and less than 30.
  • Both partners should be non smokers.
  • There should be no living unaffected children from the current relationship; exceptions do apply for late onset conditions.
  • There must be an HFEA license for the condition or one must be applied for.
  • The tests must be included in the list of UK GTN approved tests or suitable for inclusion.
  • Couples should not be seeking PGD primarily because they are infertile.