Frequently asked questions about pre-implantation genetic diagnostic

Is it possible to obtain information about the existence of diseases in the fetus before pregnancy?

Yes. When one of the members of the couple is carrying or suffers any hereditary diseases, it is possible to have knowledge of the state of the embryo (health, carrier or sick) before the woman gets pregnant. For this, it is necessary to do a Pre-Implantation Genetic Diagnosis or a PGD, which is inevitably done in in-vitro fertilization programs, as in order to obtain the necessary genetic material the aimed reproduction techniques are required.

What are the alternatives to a Pre-Implantation Genetic Diagnosis?

Some couples that cannot or do not want to undergo a pre-implantation genetic diagnosis usually use one of the following alternatives:

Prenatal diagnosis in natural pregnancy (not using in-vitro fecundation)
Artificial insemination with donated gametes
Adoption
Natural pregnancy trusting in the probabilities that the child will be born healthy.
Not having children.

Can a Pre-Implantation Genetic Diagnosis be done without knowing the genetic causes of the diseases that the future parents are carrying or suffering?

To undergo a Pre-Implantation Genetic Diagnosis it is of utmost importance that the disease carried or suffered by one of the member of the couple has been previously diagnosed at a genetic level. If genetic causes are unknown at a molecular or chromosomal level it is not possible to select an embryo that will be free of disease, except in the case of a disease related to gender.

Who can undergo a Pre-Implantation Genetic Diagnosis?

Those who suffer from any of the following genetic alterations are likely to request a Pre-Implantation Genetic Diagnosis:

Chromosomal re-organizations (Robertsonian translocations, reciprocal translocations, inversions and deletions)
Monogenic diseases (cystic fibrosis, hemochromatosis, etc.)
Dynamic mutations or triplet expansion
Disease related to gender (molecular duchenne dystrophy, hemophilia, etc)

Is sex selection of the embryo permitted when one of the members of the couple is carrying a disease related to the X or Y chromosome?

Yes. The Spanish legislation allows the selection of the embryo sex for therapeutic reasons.

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