Modern molecular genetic methods and approaches used in the preconception carrier screening
https://doi.org/10.25557/2073-7998.2023.12.20-32
Abstract
Preconception carrier screening (PS) is a set of measures aimed at preventing the birth of children with genetic diseases and identifying high-risk groups. As part of preconception genetic screening programs, studies of biomaterial samples of future parents are carried out, which usually includes a cytogenetic study to exclude chromosome abnormalities, as well as analysis of the heterozygous carriage of monogenic autosomal recessive or X-linked diseases. PS is the most important tool for assessing the risk of hereditary pathology in families at the stage of pregnancy planning, which allows potential parents to increase awareness of hereditary factors associated with pregnancy, as well as to formulate timely strategy for planning and managing pregnancy to prevent the birth of a sick child. The article reviews the strategies, approaches, and methods that are currently used in preconception genetic screening, and discusses the impact of the carrier screening programs in the world.
About the Authors
Yu. A. Nasykhova
D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology
Russian Federation
Russian Federation
3, Mendeleevskaya line, Saint Petersburg, 199034
L. A. Karpovich
D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology
Russian Federation
Russian Federation
3, Mendeleevskaya line, Saint Petersburg, 199034
N. M. Dvoynova
D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology
Russian Federation
Russian Federation
3, Mendeleevskaya line, Saint Petersburg, 199034
N. S. Osinovskaya
D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology
Russian Federation
Russian Federation
3, Mendeleevskaya line, Saint Petersburg, 199034
A. S. Glotov
D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology
Russian Federation
Russian Federation
3, Mendeleevskaya line, Saint Petersburg, 199034
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Review
For citations:
Nasykhova Yu.A., Karpovich L.A., Dvoynova N.M., Osinovskaya N.S., Glotov A.S. Modern molecular genetic methods and approaches used in the preconception carrier screening. Medical Genetics. 2023;22(12):20-32. (In Russ.) https://doi.org/10.25557/2073-7998.2023.12.20-32
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