Genetic diagnosis
Preimplantation Genetic Diagnosis (PGD)
Genetic Diagnosis or GD tells us the genetic base of a disease and, therefore, the Preimplantation Genetic Diagnosis or PGD is the study of the embryo´s genes before transferring it to and replacing it in the uterus. This way, only healthy embryos are transferred to the patient.
The Human Genome Project has greatly helped us in the knowledge of the exact molecular basis of many hereditary diseases. The development of assisted reproduction has helped us find a technique that allows us to genetically diagnose embryos before replacing them into the uterus. This process is called ¨Preimplantation Genetic Diagnosis¨.

When is PGD indicated?
PGD is indicated in:
- carriers of genetic anomalies such as chromosome reorganizations, chromosome alterations or mosaicisms.
- couples who have had a pregnancy with a chromosome alteration.
- carriers or people with monogenic diseases or diseases linked to sexual chromosomes.
- women with more than two miscarriages or unsuccessful attempts at IVF cycles.
The patient who is going to start a cycle with a subsequent PGD will undergo a conventonal IVF cycle. Two days after fertilization of the eggs in the lab, one of the embryo´s
cells is analysed to determine its chromosome characteristics while the embryo is kept in the incubator where it continues its development.
The biopsied cell is examined to see which embryo is genetically normal. The cell´s DNA is looked at, which is the way in which genes are ´stored´. In this way we can see if the biopsied embryo is a carrier of genetic alteration. The affected embryos are ruled out and only healthy embryos are transferred to the patient.
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