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Preconceptional diagnosis for giant axonal neuropathy before wedding engagement decision

Objectives: In conservative societies, premarital screening that offers a crucial health assessment of soon-to-be married couples with genetic risk factors is not usually possible. Preconceptional genetic diagnosis help couples of genetic disorders carrier risk making an informed reproductive decision. Here, we report a consanguineous Tunisian couple seeking a premarital screening for giant axonal neuropathy before wedding engagement decision. Methods A Tunisian consanguineous couple was referred to us by their own before wedding engagement decision because of a familial history of a severe neuropathy that was noted in the offspring of a shared cousin. The neuro-genetic disease was the giant axonal neuropathy with a familial mutation of the GAN gene coding for gigaxonin protein. Results The molecular diagnosis using the direct sequencing of the exon 9 of the GAN gene revealed a normal status for the male and a carrier status for the female with the 1447C>T mutation. During the genetic counselling, the couple was informed about the options that can be offered to avoid having affected children (prenatal and pre-implantation genetic diagnosis in particular). Conclusion Although our study is limited at the genetic level, it could be socially interesting because it showed the negative attitudes of the general population towards the genetic conditions and the familial responsiveness, as well as the reticence of physicians towards genetic preconceptional and premarital carrier diagnosis. Our results emphasizes the importance of education regarding the benefits of preconceptional genetic diagnosis, particularly in conservative societies.
Keywords: Giant axonal neuropathy, preconception diagnosis, neuro-genetic diagnosis

Nouha Bouayed Abdelmoula
Medical University of Sfax
Tunisia

 

 


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