Embryo Genetic Testing can be used within an IVF cycle to detect issues with chromosomes, or for patients with a family history of a single gene disorder.

Pre-implantation Genetic Screening (PGS)

Embryo Genetic Testing used within an IVF cycle is known as Pre-implantation Genetic Screening (PGS) and is used to test the embryos to detect any issues with chromosomes or genes. Embryos may look ‘normal’ under a microscope, but even those that grow to blastocyst stage (day 5-6) might not have the right number of chromosomes. The most genetically healthy embryo is then selected for transfer to increase the chance of a successful ongoing pregnancy.

As your Fertility Specialist I will recommend that you include PGS in your IVF cycle if you’ve experienced recurrent miscarriage, have a family history of chromosomal disorders or have had a number of unsuccessful IVF cycles.

Preimplantation Genetic Diagnosis (PGD)

Preimplantation Genetic Diagnosis (PGD) or Single Gene Genetic Testing is suitable for patients with a family history of a single gene disorder who are at risk of producing embryos that are affected by that single gene disorder. It can be very worrying for patients thinking they may pass on a genetic disorder to their children so this genetic test can allow patients to safely fulfil their dream of having a healthy baby.

PGD can be used for many single gene disorders including the following:

– Cystic Fibrosis

– Fragile X

– Huntingtons’ disease

– Beta-thalassaemia or Spinal Muscular Atrophy

– Ducheene musular dystrophy

– BRCA1/BRCA2 (hereditary breast/ovarian cancer)