The Fragile X Syndrome Association of the Community of Madrid (ASXFM) invited us to participate in an online clinical session to publicize ways to prevent this disease by identifying those women carriers who want to undergo reproductive treatments.
The session was entitled “Fragile X syndrome from gynecology. Premature ovarian failure (FOP) as a key element”. We talked also about the possible indicators shown by female carriers and how it could be identified in the consultations of the doctors to whom it is addressed.
Fragile-X prevention clinical session for professionals
Within the actions of visibility and awareness of the Fragile X syndrome, the session took place on October 27. It was aimed at gynecology professionals in general, as well as Assisted Reproduction Units and Centers throughout Spain.
Two experts in Fragile X syndrome and pathologies associated with the premutation FMR1 gene of the FIVclinic were present. Laia Rodríguez-Revenga, from the Biomedical Diagnosis Center – Biochemistry and Molecular Genetics of the Hospital Clínic de Barcelona, and Dolors Manau, Head of the FIVClínic Assisted Reproduction Unit.
What is Fragile-X syndrome?
Fragile-X syndrome is a genetic alteration of the X chromosome, which is the first cause of genetic and hereditary intellectual disability. The most relevant symptoms of the affected people are intellectual disability, the presence of traits typical of Autism Spectrum Disorder (ASD), attention difficulties and the need for movement (ADHD), learning problems, predisposition to the development of anxiety disorders (especially at the social level), language difficulties and behavioral disorders. This syndrome also produces important consequences for carriers.
How many women does Fragile X affect in Spain?
In Spain, 1 in 800 men are carriers of SXF and 1 in 238 women, which corresponds to 93,543 women. Among the characteristics of Fragile-X we find premature ovarian failure (POF), which is common to all of them. This problem makes them resort to different assisted reproduction techniques as a way to solve reproduction problems. Hence, the importance of detecting possible carriers of the syndrome who go to reproduction centers requesting advice and as an alternative to the difficulties encountered for a natural conception.
Thanks to the joint work with the associations, we will be able to improve lines of mutual collaboration for the benefit of the affected families that demand guidance on the different methods of assisted reproduction and selection of embryos, as well as possible women carriers of the syndrome who are unaware of this situation.
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