via biotech weblog

Preimplantation genetic diagnosis (PGD) has allowed couples to ensure the health of their child. But a screening technique known as karyomapping is going to improve prenatal diagnosis by replacing traditional PGD techniques. Karyomapping will allow doctors to detect both chromosomal abnormalities and single gene defects with a single test, making it a near-universal embryo screening. The technique should go into regular use by the end of the year.

The researchers based in the USA and the UK have been able to prove that the technique, known as genome-wide karyomapping, is capable of not only detecting diseases caused by a specific gene mutation, in this case cystic fibrosis, but that it was also capable of detecting aneuploidy (an abnormal number of any of the 23 pairs of chromosome) at the same time. This is the first time they have been able to demonstrate that the test can work in cells taken from embryos that have already been diagnosed with the cystic fibrosis gene mutation using conventional preimplantation genetic diagnosis (PGD).

via eurekalert


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