Тип публикации: статья из журнала

Год издания: 2014

Идентификатор DOI: 10.3402/ijch.v73.25062

Ключевые слова: Bioethics, DNA testing, Dynamic mutations, Genetic counselling, Hereditary diseases, Prenatal diagnosis, adult, attitude to health, ethics, female, genetic counseling, Genetic Diseases, Inborn, genetic screening, heterozygote, human, middle aged, pregnancy, register, risk assessment, Russian Federation, Bioethical Issues, Genetic Testing, Health Knowledge, Attitudes, Practice, Humans, Registries, Siberia

Аннотация: Background. Prenatal diagnosis of congenital and hereditary diseases is a priority for the development of medical technologies in Russia. However, there are not many published research results on bioethical issues of prenatal DNA testing. Objective. The main goal of the article is to describe some of the bioethical aspects of prenaПоказать полностьюtal DNA diagnosis of hereditary diseases with late onset in genetic counselling practice in the Sakha Republic (Yakutia)- a far north-eastern region of Russia. Methods. The methods used in the research are genetic counselling, invasive chorionic villus biopsy procedures, molecular diagnosis, social and demographic characteristics of patients. Results. In 10 years, 48 (76%) pregnant women from families tainted with hereditary spinocerebellar ataxia type 1 and 15 pregnant women from families with myotonic dystrophy have applied for medical and genetic counselling in order to undergo prenatal DNA testing. The average number of applications is 7- 8 per year. There are differences in prenatal genetic counselling approaches. Conclusion. It is necessary to develop differentiated ethical approaches depending on the mode of inheritance, age of manifestation, and clinical polymorphism of hereditary disease. © 2014 Sardana K. Kononova et al.

Журнал: International Journal of Circumpolar Health

Выпуск журнала: Vol. 73

• Kononova S.K. (Yakutsk Scientific Center of Complex Medical Problems, Siberian Branch of the Russian Academy of Medical Sciences, Yakutsk, Russian Federation, Institute of Natural Sciences, M. K. Ammosov North-Eastern Federal University, Yakutsk, Russian)
• Sidorova O.G. (Yakutsk Scientific Center of Complex Medical Problems, Siberian Branch of the Russian Academy of Medical Sciences, Yakutsk, Russian Federation)
• Fedorova S.A. (Yakutsk Scientific Center of Complex Medical Problems, Siberian Branch of the Russian Academy of Medical Sciences, Yakutsk, Russian Federation, Institute of Natural Sciences, M. K. Ammosov North-Eastern Federal University, Yakutsk, Russian)
• Platonov F.A. (Institute of Natural Sciences, M. K. Ammosov North-Eastern Federal University, Yakutsk, Russian Federation)
• Izhevskaya V.L. (Research Centre for Medical Genetics of the Russian Academy of Medical Sciences, Moscow, Russian Federation)
• Khusnutdinova E.K. (Institute for Biochemistry and Genetics, Ufa Scientific Centre of the Russian Academy of Sciences, Ufa, Russian Federation)

• Scopus