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Varna Medical Forum

Prenatal diagnosis - Basic genetic approach to prophylaxis

Mari Hachmeriyan, Lyudmila Angelova


Prophylaxis, as economicaly and socially most effective method of prevention, should be priority of all medical specialties. In the era of emerging technologies, medical genetics has more tools to fight serious congenital diseases. The article presents key moments and principle elements in providing non-invasive and invasive methods as prenatal genetic prevention. Maternal biochemical screening and the new non-invasive prenatal genetic tests as well as prenatal diagnostic tests have their possibilities and limitations. Indications for providing prenatal diagnosis together with moral, ethical and legal standards are listed. There is huge dynamics in development of the field so only time will approbated or reject various approaches to prenatal diagnosis.


профилактика, пренатална диагностикa

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Ангелова Л., В.Гаданчева, Д.Константинова и др. Опитът на генетична лаборатория Варна с амниоцентеза с генетичен анализ за периода 2006-2010 година, Акушерство и гинекология, бр.1, 2012, стр.8-12.

Ангелова Л., Б.Кирчев. Практическо ръководство по пренатална диагностика 2014, Университетско издателство на МУ Варна, стр. 22-38.

Кременски И. Концепция за развитието на Националната генетична лаборатория през 2011-2014 год. До МЗ. 2011г.

Burow M., Non-invasive prenatal diagnosis with PraenaTest® as an alternative procedures, 10th Bolkan congress of medical genetics 10-12.10.2013 Bled, Slovenia

Harper P. Practical genetic counseling, 7th ed., Edvart Arnold, London 2010, p.115-135.

Mueller R., I. Young. Emery`s elements of medical genetics. 11th ed. Elsevier Scince, 2003q 303-313.

Nussbaum R., R. McInnes, H. Willard, A. Hamosh.Thompson & Thompson Genetics in Medicine, 7th ed. Saunders Elsevier 2007,p.443-461.



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