Revisió de les tècniques aplicables al diagnòstic genètic preimplantacional (DGP)

Abstract

Preimplantation genetic diagnosis (PGD) is a technique associated with assisted reproduction (AR) which is the analysis of genetic material from pre-embryo in order to determine if it is free of genetic alterations and to transfer it to the uterus of the mother enabling the seed of a healthy baby. To do this project it has done a thorough search, searching many keywords in databases, bibliographic and webgraphy sources and consulting specialists in medical field. To complement the theoretical knowledge acquired stays were performed with Girofiv and Reprogenetics groups. PGD is a technique basically indicated in couples who have sex-linked diseases, monogenic diseases, the search of histocompatible siblings, in numerical and structural chromosomal abnormalities, in women who have had recurrent abortions or in patients over 35 years where the doctor can suspect the presence of genetic alterations in oocytes. To analyse these situations is usually provided genetic counselling by specialists where all possibilities available to patients are determined. In the PGD it is necessary to obtain oocytes, which are extracted from ovarian puncture with prior hormonal stimulation. Mature oocytes (either from the same patient or donor, which can be cryopreserved) are fertilized in vitro or by intracytoplasmic injection to get the pre-embryos, which are selected to extract one or more cells from a biopsy polar body, blastomere or trophectoderm. The extracted DNA from the cells is analysed by three techniques: PCR, FISH and CGH array. The legislation of this technique is highly influenced by ethical and religious issues. Spain is one of the countries of the European Union and the world that most uses the PGD techniques of RA, having a fairly permissive legislation, always validated by specialized committee. Other European countries have more or less restrictive legislation regarding this technique. Outside Europe, the developed countries which use the DGP usually do not have separate legislation for this technique, and they often regulate it by commissions or from what determines their religion