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Genetic Diagnosis


Preimplantation genetic screening (PGS) consists of removing a cell from the embryo and later perform a genetic diagnosis using FISH or PCR techniques. With this process we can dismiss 95% of the chromosomal diseases affecting the human being as the down sindrome, Patau syndrome, Edwards, etc. This is a high complexity technique of molecular biology.

It is indicated for:

-Women with advanced age and good follicular amount.
- Women who have experienced more than 2 miscarriages
- Couples with a chromosomical abnormality

Preimplantation genetic screening (PGS) for aneuploidy is a powerful genetic test that may be performed on embryos during IVF treatment to screen for numerical chromosomal abnormalities.

Alterations in the chromosomal endowment can result in a malfunction of the implant, miscarriages, and chromosomal abnormalities in newborns.

Chromosomally normal embryos are more likely to evolve properly and give rise to a healthy son.

The PGS for chromosomal abnormalities provides an analysis of the 23 pairs of chromosomes: the autosomes and the sex chromosomes (X & Y). Normally there are 23 pairs of chromosomes in each human cell. A change in the number of chromosomes is called aneuploidy

Aneuploidies are the cause of most of spontaneous abortions and can lead to birth defects or intellectual disability in newborn infants. Most of the types of aneuploidy are not compatible with life. The most common syndromes caused by non-sex chromosome aneuploidies are the Down syndrome, Edwards syndrome and Patau syndrome. Aneuploidy is not usually inherited and can affect any chromosome; however, the probability that an embryo suffer of chromosomal abnormality increases with the age of the mother.

More information:
Biofertility uses the technology of array CGH (aCGH) (comparative genomic hybridization) to perform the PGS for chromosomal abnormalities. In our team we work with the platform 24sure BlueGnome based on arrays of BACs. This technology has been especially developed for the analysis of few cells or even a single cell as required for preimplantation genetic diagnosis. The validation studies have been conducted in our laboratory in order to optimize the quality and amplification of DNA. The PGS for chromosomal anomalies by CGH array has an accuracy of 98-99%

(It's a platform specially developed for preimplantation genetic diagnosits, which we have previously validated in our laboratory to optimize the efficiency of amplification and ensure the reliability of results in a single cell).