دورية أكاديمية
أعرض في EDS

Bioethical issues of preventing hereditary diseases with late onset in the Sakha Republic (Yakutia).

التفاصيل البيبلوغرافية
العنوان: Bioethical issues of preventing hereditary diseases with late onset in the Sakha Republic (Yakutia).
المؤلفون: Kononova SK; Yakutsk Scientific Center of Complex Medical Problems, Siberian Branch of the Russian Academy of Medical Sciences, Yakutsk, Russia ; Institute of Natural Sciences, M. K. Ammosov North-Eastern Federal University, Yakutsk, Russia., Sidorova OG; Yakutsk Scientific Center of Complex Medical Problems, Siberian Branch of the Russian Academy of Medical Sciences, Yakutsk, Russia., Fedorova SA; Yakutsk Scientific Center of Complex Medical Problems, Siberian Branch of the Russian Academy of Medical Sciences, Yakutsk, Russia ; Institute of Natural Sciences, M. K. Ammosov North-Eastern Federal University, Yakutsk, Russia., Platonov FA; Institute of Natural Sciences, M. K. Ammosov North-Eastern Federal University, Yakutsk, Russia., Izhevskaya VL; Research Centre for Medical Genetics of the Russian Academy of Medical Sciences, Moscow, Russia., Khusnutdinova EK; Institute for Biochemistry and Genetics, Ufa Scientific Centre of the Russian Academy of Sciences, Ufa, Russia.
المصدر: International journal of circumpolar health [Int J Circumpolar Health] 2014 Jul 24; Vol. 73, pp. 25062. Date of Electronic Publication: 2014 Jul 24 (Print Publication: 2014).
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: Taylor & Francis Country of Publication: United States NLM ID: 9713056 Publication Model: eCollection Cited Medium: Internet ISSN: 2242-3982 (Electronic) Linking ISSN: 12399736 NLM ISO Abbreviation: Int J Circumpolar Health Subsets: MEDLINE
أسماء مطبوعة: Publication: 2016- : Philadelphia, PA : Taylor & Francis
Original Publication: Oulu, Finland : International Union for Circumpolar Health and the Nordic Society of Arctic Medicine, [1997-
مواضيع طبية MeSH: Heterozygote*, Genetic Diseases, Inborn/*prevention & control , Genetic Testing/*ethics , Prenatal Diagnosis/*ethics, Adult ; Bioethical Issues ; Female ; Genetic Counseling ; Genetic Diseases, Inborn/diagnosis ; Health Knowledge, Attitudes, Practice ; Humans ; Middle Aged ; Pregnancy ; Registries ; Risk Assessment ; Siberia
مستخلص: 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 prenatal 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.
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فهرسة مساهمة: Keywords: DNA testing; bioethics; dynamic mutations; genetic counselling; hereditary diseases; prenatal diagnosis
تواريخ الأحداث: Date Created: 20140823 Date Completed: 20150413 Latest Revision: 20231110
رمز التحديث: 20231110
مُعرف محوري في PubMed: PMC4111875
DOI: 10.3402/ijch.v73.25062
PMID: 25147769
قاعدة البيانات: MEDLINE
الوصف
تدمد:2242-3982
DOI:10.3402/ijch.v73.25062