Preimplantation Genetic Diagnosis (PGD)

By detecting whether the embryo is affected by a hereditary disease, we successfully guarantee healthy offspring and definitively prevent the disease from being transmitted to future generations

What is PGD?

Pre-implantation genetic diagnosis (PGD) refers to testing embryos for a genetic disorder prior to transfer to the mother. The purpose of the test is to avoid passing the genetic disorder on to future generations.

What is it for? What is its purpose?

PGD makes determining which embryos are free of a particular genetic disorder possible. The aim is to ensure that children are born free of the disorder and bring an end to it in the family.

What techniques does PGD involve?

In order for PGD to be carried out, genetic testing of the future parents is necessary.The first step, therefore, is genetic testing. In other words, a process to identify the error in the gene (mutation) which is behind the disorder.Based on the results obtained, the most appropriate way of diagnosing future embryos when in the in vitro fertilisation laboratory (informativity) needs to be designed.

Once the phases prior to PGD (genetic and informativity study) have been completed, the PGD cycle can go ahead with guarantees. To this end, the couple will undergo in vitro fertilisation (IVF) treatment. It is important to wait until the embryos from the treatment have divided so that several embryo cells can be extracted (embryo biopsy). The biopsies are then analysed in the molecular biology laboratory in order to find out if the biopsied embryos are free of the disorder in question. The aim is to transfer healthy and viable embryos which will lead to a healthy pregnancy.

In what cases is PGD recommended?

PGD is recommended in couples who have or who are carriers of a genetic disorder and who wish to have a child that is free of that disorder. The technique ensures that only children free of the disorder will be born.

What diseases can be analyzed using PGD?

The number of cases in which the alteration causing hereditary disorders is known is greater every day. As such, PGD can be used to analyse any genetic disorder for any known gene error (mutation). It can be applied in the case of:                                                

  • Couples in which one partner has a genetic disorder with dominant inheritance (50% of children are born with the disorder).
  • Couples in which the mother is the carrier of a genetic disorder which may or may not be passed on depending on the sex of the child (50% of her children will have the disorder).
  • Couples in which both partners are carriers of a genetic disorder with recessive inheritance (25% of children are born with the disorder). 

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