Preimplantation Genetic Diagnosis

This is a technique described by Handyside in 1990, whichallows the study of a blastomere (embryonic cell) and later identification of genetic abnormalities and also the sex of the of the blastomeres, allowing only the healthy embryos or those of a determined sex to be transferred into the uterus.

In 2002, CEFIVA established a cooperation agreement with the Cellular Biology Department of the Autónoma University in Barcelona, for the development of this technique, in which the collaboration of a multidisciplinary team is essential.

The obtaining of the embryos will always be by way of ICSI due to technical reasons, even though the couple may not present any type of reproductive abnormality which might prevent a spontaneous pregnancy.

There is a variable percentage of pre-embryos from which it is not possible to obtain a conclusive result, and transfer of these would not be recommended.

The embryos can also be affected by the embryo biopsy techniques.

The studies which can be done at present are:

1. Determination of the sex.
2. Aneuploidy Screening: Evaluation of the chromosomes 13, 15, 16, 17, 18, 21, 22, X, Y.
3. Screening for translocations, inversions, other chromosomal rearrangements.
4. Genetic characterisation: Cystic Fibrosis for carriers of the mutations F508 and 1609 of ICA.
5. Genetic Counselling