Keywords
monogenic diseases
recessive diseases
preconception preparation
screening models
Abstract
As part of preconception preparation, a doctor uses a number of genetic studies: karyotype and carrier testing for hereditary monogenic diseases. Every person is a carrier of monogenic diseases. With these studies families have the opportunity to determine the risk of having a child with a hereditary disease at the stage of pregnancy planning and the opportunity to avoid the likely transmission of the hereditary disease to future children. Survey options: model and scope may vary. The advantages and disadvantages of various screening models are presented in this article. The value and significance of screening for carriage of hereditary monogenic diseases is high.
For citation
Pletenskaya SR, Kanivets IV, Gapich TA. Genetic screening for carriage of recessive diseases: The meaning and value of preconception preparation. Bulletin of USMU. 2023;(4):48–57. (In Russ.). EDN: https://elibrary.ru/GPENQW.
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