Dr Waterstone dicusses Pre-implantation Genetic Diagnosis

Ireland AM met with Dr Waterstone and Emma and John O’Connor along with daughter Megan who became the first baby in the world to be born free of a fatal condition, mucolipidosis, as a result of Pre-Implantation Genetic Diagnosis.

It is the first reported incidence in the world of successful PGD using karyomapping in the case of mucolipidosis. Karyomapping is a new technique that has transformed the field of PGD due to its rapid and robust method of detecting a wide range of genetic diseases in embryos.