Pre-implantation Genetic testing for monogenic/single gene disorders (PGT-M)

This technique is available at Fertility Plus for patients who have a known genetic disorder and are at risk of passing on this disease to their children.

Prior to PGT, the only prenatal methods available for testing genetic conditions were amniocentesis or chorionic villus sampling.  However, with these techniques parents faced the dilemma of whether or not to terminate the pregnancy if a genetic abnormality was present.  With PGT we can diagnose genetic conditions in embryos and only transfer the unaffected embryo(s) before pregnancy is established.   

PGT is a diagnostic test carried out on a few cells from the embryo before transfer.  PGT allows couples at risk of passing on a genetic disease to have a child that does not carry the genes for the disease and that is fully genetically related to them.  It is a diagnostic test generally performed on day five and six embryos (blastocyst) to detect known genetic diseases or inherited chromosomal abnormalities. 

PGT is most useful for patients who are at risk of passing on single gene defects like Cystic Fibrosis, Muscular Dystrophy or Huntington’s disease.  There is public funding available for PGT-M.

Pre-implantation Genetic testing for Chromosome Structural Rearrangements (PGT-SR)

Some people have changes in the structure of their chromosomes which means they are at increased risk of producing embryos with the incorrect amount of genetic material. This means the chance of miscarriage increases and it is harder to achieve an ongoing pregnancy.

PGT-SR checks the chromosome arrangement to ensure a normal embryo is transferred.  There is public funding available for PGT-SR.

Pre-implantation Genetic testing for Aneuploidies (PGT-A)

PGT-A checks that the correct number of chromosomes are present in an embryo before it is transferred. This may be appropriate for couples who produce many blastocyst embryos. It is also useful for detecting chromosomal abnormalities that may result in diseases such as Down’s syndrome, Klinefelter syndrome or Turner’s syndrome. PGT-A cannot be used for gender selection. If you would like further information, please discuss with your fertility doctor. There is no public funding for PGT-A, but is available through Fertility Plus privately.