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Pre-implantation Genetic Diagnosis

The pre-implantation genetic diagnosis (PGD) techniques have been applied to the clinic recently. In Spain, the first gestation achieved after the PGD was in 1994, when the gender of a child was selected in a couple in which the woman was a hemophilian carrier. The pre-implantation genetic diagnosis, however, has acquired notable social relevance and an increasing demand nowadays.

The final aim of the pre-implantation genetic diagnosis is to achieve a more positive pregnancy with a healthy embryo. This technique is specially indicated for couples with family antecedents of serious genetic diseases who run the risk of the appearance of genetic or chromosomal alterations in the embryo.

LabGenetics collaborates as a reference center in genetic analyses with reproduction and IVF treatment (in-vitro fertilization clinics involved in the execution of pre-implantation genetic diagnosis.

In order to be able to carry out this technique it is necessary to obtain, by means of an embryo biopsy, one or two blastomeres (pluripotential cells) of the 6/8-cells embryo, on, approximately, the 3rd day of embryo development. Within a maximum time of 3 days an embryo can be kept in a culture before being transferred to the mother's uterus, LabGenetics will do a quick and exact diagnosis. Embryos that do not have any congenital anomalies are selected to be transferred to the uterus. Another alternative for the PGD is the state analysis of the ovule that is going to be fertilized from polar corpuscle, although in this case only maternal hereditary pathology can be analyzed.

LabGenetics researches each particular case and depending on the type of disease that a couple or family could have, it selects the most convenient strategy to do a pre-implantation genetic diagnosis, either by researching chromosomes in the embryo, or by using the mutation detection in the genes that are the cause of monogenic disorders.