Preimplantation Genetic Diagnosis (PGD) is the study of genetic alterations in the embryo before being transferred to the recipient mother, thus preventing transmission of a given genetic disease.
PGD makes it possible to find out which embryos are free from a given genetic disease that is always caused by a genetic mutation. Its purpose is to guarantee disease-free offspring and to put an end to transmission of the disease in the family.
Performing a genetic test is necessary for PGD. If it has not been done, it needs to be done. Therefore, the first step is to perform a genetic test, that is, identify a failure in the gene (mutation) that is causing the disease in point. With the results of the genetic test, a diagnostic strategy is designed. This strategy must be individual for future embryos (informativity).
Once preparation is complete (genetic test and informativity), the PGD cycle can reliably begin. To do so, couples must undergo In Vitro Fertilization treatment (IVF). We must wait until the embryos that result from the process have split to proceed with an embryo biopsy.Biopsies are then analysed in our molecular biology laboratory. Biopsied embryos remain in culture until genetic diagnosis is available. The purpose is to transfer healthy developing embryos that will result in a healthy conception.
Del DGP se pueden beneficiar las parejas afectas o portadoras de una enfermedad genética que quieran conseguir una descendencia biológica libre de la enfermedad sin necesidad de correr el riesgo de tener una gestación afecta y tener que enfrentarse ante la decisión de la interrupción del embarazo.
The number of hereditary diseases where the abnormality that originates them is actually known grows by the day. In this way, any genetic disease where the failure in the gene that causes it (mutation) is known could be tested using PGD. It could be applied to:
- Couples where one of the two partners is affected by a genetic disease that is dominantly hereditary (50% of their offspring are affected).
- Couples where the mother is the carrier of a sex-linked genetic disease (all of her offspring are affected).
- Couples where both partners are the carriers of a genetic disease that is inherited in a recessive pattern (25% of their offspring are affected).
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