Comparative review of methods for diagnosing chromosomal abnormalities in fetuses with malformations and / or echographic markers of chromosomal pathology
https://doi.org/10.25694/URMJ.2018.13.62
Abstract
The article presents a comparative analysis of methods used for the diagnosis of genetic pathology in fetuses with malformations and / or developmental abnormalities. The standard cytogenetic analysis of the karyotype is most widely implemented and used, however, the low resolution of this method in 8Mb does not allow for the detection of microdeletions and microduplications, which in turn in 5-6% of cases are the causes of malformations and / or developmental abnormalities in the fetus. When using chromosomal microarray analysis (CMA) it increases the diagnostic efficacy of prenatal diagnosis, which allows making a diagnosis in a timely manner, determining the prognosis for the life of the child after birth. The choice of method for diagnosing genetic pathology in fetuses with congenital malformations and / or developmental abnormalities is currently not regulated and is often based on the technical capabilities of the laboratory. At the moment, a large amount of data has been accumulated confirming the effectiveness of the use of SNP microarrays compared to classical cytogenetic methods.
About the Authors
J. K. Kievskaya
OOO «Геномед»
Russian Federation
Russian Federation
I. V. Kanivets
OOO «Геномед»; ФГБОУ ДПО Российская академия непрерывного профессионального образования
Russian Federation
Russian Federation
N. V. Shilova
ФГБНУ Медико-генетический научный центр
Russian Federation
Russian Federation
S. A. Korostelev
ФГАОУ ВО Первый МГМУ им. И.М. Сеченова Минздрава России
Russian Federation
Russian Federation
D. V. Pyankov
OOO «Геномед»
Russian Federation
Russian Federation
E. V. Kudryavtseva
Уральский государственный медицинский университет
Russian Federation
Russian Federation
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Review
For citations:
Kievskaya JK, Kanivets IV, Shilova NV, Korostelev SA, Pyankov DV, Kudryavtseva EV. Comparative review of methods for diagnosing chromosomal abnormalities in fetuses with malformations and / or echographic markers of chromosomal pathology. Ural Medical Journal. 2018;(13):48-53. (In Russ.) https://doi.org/10.25694/URMJ.2018.13.62
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