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The preimplantation genetic diagnosis (PGD) program has been geared towards primary prevention of congenital abnormalities in couples with high reproductive risk of transferring diseases to their offspring, especially monogenic disorders linked to chromosome X (affected males or female carriers ) and chromosomal abnormalities (translocations) due to advanced maternal age, which causes recurrent pregnancy loss. This procedure could also be implemented to determine the presence of Down syndrome, recurrent miscarriages, diseases that are product of gene mutation (such as cystic fibrosis) or to avoid diseases linked to the sex chromosomes, such as hemophilia.
The Punta Pacifica Reproduction Center has recently incorporated P.D.G, being the only center in the country that offers this diagnostic test. A biopsy of the blastomeres in embryos obtained through ICSI fertilization, Intracytoplasmic Sperm Injection. After 72 hours an 8-cell or later stage of development one or two blastomeres are obtained and then we proceed to perform a technical study by In Situ Hybridization (FISH) for 5 colors, evaluating the 13, 18, 21 X and Y chromosomes, while the embryos are still growing in incubators.
After 24 hours of diagnosis we proceeded to the embryo transfer of the obtained results.
The PGD is a new technology which, combined with assisted reproductive techniques, offers the ability to analyze the presence of chromosomal abnormalities and genetic markers in embryos before being transferred to the uterus and therefore prior to implantation. This procedure also helps to avoid therapeutic abortions and creates new avenues in the prevention of genetic diseases that currently lack treatment.
The most beneficial aspect of PGS is that it maximizes the probability for a partner carrier to have healthy offspring, which represents a major advantage compared to the prenatal diagnostic techniques (amniocentesis, corial biopsy) as it is takes place at a very early embryonic development stage. "We do not have to wait until the child is born with the disease. This is a diagnosis of a genetic disease before the disease occurs, before embryo implantation, chemical and / or hospital pregnancy.”