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For the first time in Spain, the Puigvert Foundation and Sant Pau Hospital, in cooperation with Reprogenetics, have performed a preimplantation genetic diagnosis (PGD) in order to prevent the transmission of a mutation of the BRCA1 gene (which entails a high risk of passing on breast cancer). The procedure was completed with the birth of a healthy baby not carrying the predisposition to breast cancer.

In the month of April 2009, for the first time in Spain, the National Assisted Human Reproduction Commission authorised the procedure when it ascertained that the mother had a family history of breast cancer and early stage ovarian cancer with high mortality, and identified the presence of a mutation of the BRCA1 gene in her genome. Before starting the procedure it was necessary to set up the mutation detection protocol for the couple's specific case. Next, the in vitro artificial insemination cycle was performed and the preimplantation genetic diagnosis was carried out between February and March 2010. Two embryos that were not carriers of the mutation of the gene were transferred and last December the baby was born, free of the family mutation.

The success with this treatment implies a hopeful future for other couples in similar situations.

What is Preimplantation Genetic Diagnosis (PGD)?

The scientific advances and Law 14/2006 on Assisted Human Reproduction Techniques have taken assisted reproduction techniques towards other horizons have allowed for using these techniques for different sterility situations. One of these situations is preimplantation genetic diagnosis (PGD), which allows for detecting genetic anomalies in the embryo before it is implanted in the maternal uterus. Based on the DNA analysis of one or two cells of an embryo cultured in vitro, the healthy embryos are selected that are free of a specific genetic affliction or disorder. Before the cycle can be performed, it is essential to carry out a series of complex and costly individual and/or family studies, which require the participation of a molecular biology laboratory to identify the gene or chromosome that is causing the problem and set up the protocol required for each couple.

Which cases is PGD suited for?

PGD is especially suited for individuals who are carriers of chromosome disorders or couples who suffer or are carriers of serious incurable hereditary afflictions and who have a high probability of passing these on to their descendants. In cases of genetic mutations with a predisposition for cancer, the use of PGD is not limited to breast cancer, as in the case that the Puigvert Foundation - Sant Pau have treated, but is also suited for other cancer predisposition syndromes:  colon adenomatous polyps or non-polyp colon cancer; multiple endocrine neoplasia or neurofibromatosis.

Ethical aspects of PGD

As Dr. Núria Terribas, Director of the Borja Bioethics Institute explains, “the application of PGD techniques in assisted reproduction must be done based on the ethical principles of not harming and for the greater benefit of the one to be born, avoiding a birth with a pathological disorder or with a high risk of suffering a specific affliction."

Notwithstanding this, two basic elements must be taken into account:

  • The application of prudence and proportionality criteria. which must be duly authorised in each case, weighing all the elements of the family's request (seriousness of the risk, degree of penetration, etc.) and its ethical justification, as we are dealing with human life.
  • The non-generation of false expectations in society in that all can be diagnosed in the laboratory, guaranteeing that our children will be born without the risk of suffering any affliction.

"An adequate legal framework and a system of guarantees and controls, which includes the valuation of the ethical aspects of these practices, is the best way of ensuring that these elements concur”, explained Dr. Terribas.

The Assisted Reproduction programme being jointly undertaken by the Puigvert Foundation and Santa Creu and Sant Pau Hospital , active since the year 1985, at present it practices over 1,000 insemination cycles and more than 500 in vitro fertilisations in their different modes, every year. It started with preimplantation genetic diagnosis in 2002. Since then they have applied this technique to almost a hundred couples and they have achieved successful pregnancies in 47% of cases.

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