Screening for inherited disease
Preimplantation genetic diagnosis (PGD) was developed specifically for the identification of embryos with genetic abnormalities.
These abnormalities can cause autosomal recessive diseases such as beta-thalassemia and alpha-thalassemia, autosomal dominant diseases such as many of the muscular dystrophies, and X-linked diseases such as fragile X and haemophilia.
The gender of the embryo is always tested during PGD for an X-linked disease. It is relevant medically because the potential mother carries an abnormal gene on her X chromosome. In these cases a genetic disease can, on average, affect half of her sons because their only X chromosome is defective.
Couples who carry mutations for an inheritable genetic disease previously only had two options: they could either take their chances and hope that their baby would be unaffected; or they could have a prenatal test and, if foetus affected, consider terminating the pregnancy. For these couples, it might mean repeated terminations, with the associated heartache.
At Superior A.R.T. we have available the expertise and technology from Sydney IVF, world-renowned for its innovative work in PGD testing for inherited single gene diseases.
Genea has successfully developed tests for more than 170 conditions including the following:
At Superior A.R.T. we can usually test for any inheritable single gene disease as long as the gene and/or mutation are known.
At Superior A.R.T. we can also do PGD for HLA matching, to produce an unaffected sibling who is an exact HLA match to an existing affected child. Stem cells harvested from the cord at birth may be used as a potential treatment for the affected child.