The issue of the fate of a foetus with a mutation after a prenatal diagnosis of spinocerebellar ataxia type I in comparison with myotonic dystrophy in the Sakha Republic (Yakutia)
https://doi.org/10.25789/YMJ.2018.61.05
Abstract
We discuss one of the issues of prenatal diagnostics – the bioethical dilemma of the fate of a foetus with a mutation. We believe that prior to the onset of the disease, the individuals-carriers of SCA1 gene mutation cannot be called diseased, as they are completely healthy in their physical and intellectual development.
The phenomenon of DM anticipation depends heavily on inheritance from diseased mothers and increases the risk of birth of an almost completely unviable baby with a severe congenital DM. An ethical dilemma arises: «Should we classify spinocerebellar ataxia type 1 as a ‘less serious’ genetic disease for prenatal diagnostics, and myotonic dystrophy as a more serious disease for prenatal diagnostics?» This is a very complex issue and requires discussion not only among the specialists, but also lawyers, psychologists and the general population of the republic.
About the Authors
S. K. Kononova
Yakut Scientific Centre of Complex Medical Problems
Russian Federation
Russian Federation
Kononova Sardana Kononova - senior researcher of the laboratory of molecular genetics
Yakutsk
O. G. Sidorova
Yakut Scientific Centre of Complex Medical Problems
Russian Federation
Russian Federation
Sidorova Oksana Gavrilina - researcher of the laboratory of hereditary pathology
Yakutsk
M. A. Varlamova
Yakut Scientific Centre of Complex Medical Problems
Russian Federation
Russian Federation
Varlamova Marina Alexeevna – junior researcher of the laboratory of hereditary pathology
Yakutsk
Kh. A. Kurtanov
Yakut Scientific Centre of Complex Medical Problems
Russian Federation
Russian Federation
Kurtanov Khariton Alexeevich – PhD, chief researcher Department of molecular genetics
Yakutsk
F. A. Platonov
M.K. Ammosov North-Eastern Federal University
Russian Federation
Russian Federation
Platonov Fedor Alexeevich, MD, chief researcher Institute of Health
Yakutsk
V. L. Izhevskaya
Russian Academy of Science
Russian Federation
Russian Federation
Izhevskaya Vera Leonidovna- MD, professor, Deputy Director for scientific work of Medical Genetic Research Center
Moscow
E. K. Khusnutdinova
Ufa Federal Research Center
Russian Federation
Russian Federation
Khusnutdinova Elsa Kamilevna- doctor of biological sciences , professor, academician of the Academy of Sciences of the Republic of Bashkortostan, Director of the Institute of biochemistry and genetics
Ufa
S. A. Fedorova
M.K. Ammosov NorthEastern Federal University
Russian Federation
Russian Federation
Fedorova Sardana Arkadyevna- doctor of biological sciences, head of the laboratory of molecular biology
Yakutsk
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Review
For citations:
Kononova S.K., Sidorova O.G., Varlamova M.A., Kurtanov Kh.A., Platonov F.A., Izhevskaya V.L., Khusnutdinova E.K., Fedorova S.A. The issue of the fate of a foetus with a mutation after a prenatal diagnosis of spinocerebellar ataxia type I in comparison with myotonic dystrophy in the Sakha Republic (Yakutia). Yakut Medical Journal. 2018;(1):20-23. https://doi.org/10.25789/YMJ.2018.61.05
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