Preimplantation genetic testing involves the removal of one or more cells from embryos before they are transferred. This is followed by testing of the cells to find out the number of chromosomes, or screened for any genetic disease that is known to be carried in the family. This testing can be performed within an IVF/ICSI cycle in collaboration with genetic testing facilities.
This technology can be used to look for single-gene disorders (inherited diseases caused by a single faulty gene) or chromosomal translocations with unaffected embryos selected for re-implantation. This protects resulting children from inheriting the disease. Additional this technology can identify abnormal chromosome numbers. Embryos with abnormal chromosome numbers are less likely to implant or the child may have a condition like Down’s Syndrome. In this way embryos can be screened in order to select the most viable embryos for embryo transfer.
This technology could be recommended when:
• Both partners carriers of the same autosomal recessive condition such as thalassaemia
• One partner has an autosomal dominant condition such as Huntington disease
• Have a mutation associated with a hereditary cancer syndrome like BRCA1 & 2
• Family history of chromosome problems
• Sperm is at risk of carrying abnormal chromosomes
• Those with several miscarriages or failed IVF attempts without explanation
• Women of advanced age
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