Open AccessPREVENTION OF ORPHAN DISEASES: CONTEMPORARY ASPECTS AND NEW CHALLENGES
Author(s) -
Р. Ф. Шавалиев,
Sabina Sh. Yafarova,
S. Ya. Volgina
Publication year - 2019
Publication title -
rossijskij pediatričeskij žurnal
Language(s) - English
Resource type - Journals
eISSN - 2413-2918
pISSN - 1560-9561
DOI - 10.18821/1560-9561-2017-20-4-226-232
Subject(s) - medicine , orphan drug , intensive care medicine , prenatal diagnosis , bioinformatics , pregnancy , fetus , biology , genetics
The authors represent current data concerning the management of the prevention of orphan diseases. Determinations of modes and levels of the prevention have been formulated. The importance of pre-gravity care, medical genetic counseling, assisted reproductive technologies, methods of prenatal diagnosis and fetal surgery, neonatal screening at certain stages of the organization of preventive measures is reflected. Specific features of screening for rare diseases with the use of rapid diagnostics methods are described: a solid approach, mass character, preventive orientation and stage-by-stage approach. Topical issues of the prevention of orphan diseases are considered.