Scientists of the Republican Medical and Genetic Center, a member of the Eurasian REC, have introduced a new high-tech method - full-genome chromosomal micromatrix analysis (CMA) for prenatal diagnosis of pregnant women, it allows to exclude any chromosomal disorders of the fetus.
Bashkortostan is the only region of Russia where this examination according to indications is carried out for pregnant women free of charge at the expense of the republic's budget. 650 such surveys are planned in 2021. The method itself is invasive. Any material containing DNA, such as placental villi or fluid inside the fetal membranes, will be suitable for the study. Scientists analyze individual fragments of the genome using a specially prepared micromatrix.
As a result of the obtained method, more than a thousand genes are simultaneously examined, as a result of which it became possible to exclude more than 250 severe genetic diseases.
– Using this method, we identify disorders that cannot be detected by a standard cytogenetic study of the karyotype– - said the director of the Medical and Genetic Center Ildar Minniakhmetov. - It used to be like this: the biomaterial that was obtained during the invasive procedure was examined under a microscope for chromosomal abnormalities. But no matter how experienced the specialist is, there is a resolving power of the human eye. Some major disorders, for example, trisomy of the 21st chromosome, which leads to Down syndrome, can be detected in 100% of cases, but the number of chromosomal disorders is huge! So, a tiny section in some arm of the chromosome may be damaged, and with the help of XMA we will "catch" it, but not with simple cytogenetics. The damage is so small that the human eye simply won't notice it. The micromatrix analysis technology underlying the test allows for high accuracy in detecting rearrangements that are not visible in a conventional microscope.
There are congenital malformations that require a series of operations, and they must be performed in the first hours of a child's life. With the introduction of this method, doctors have the opportunity to get a complete picture of what is happening in advance.
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In December 2020, Bashkortostan became the winner of the competitive selection and received federal support for the development of the world-class Eurasian Scientific and Educational Center (REC).
The world-class Eurasian Scientific and Educational Center includes six universities of Bashkortostan, the Skolkovo Institute of Science and Technology, three scientific institutions and 20 organizations of the real sector of the economy. In accordance with the REC activity program, 10 technological projects were identified in the areas of "New Living Environment", "Digital and Green Chemistry, Energy", "Biomedicine and Genetics", "Engineering and advanced Production Technologies".