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THE POSSIBILITY OF THE DETERMINATION
OF SINGLE NUCLEOTIDE POLYMORPHISMS
AND HLA-GENOTYPING OF EMBRYONES ON
THE BASIS OF THE GENETIC MATERIAL OF
THE BLASTOMERES IN THE PROGRAMS OF
PREIMPLANTATION SCREENING
14.00.00 Medical sciences
Description
The research shows the possibility of extended
preimplantation genetic screening (PGD) that allows
to improve the strategy of selection of embryos that
satisfies not only the requirement of the absence of
chromosomal abnormalities, but also includes their
additional check for predisposition to various diseases,
as well as the choice of the embryo with the most
optimal HLA haplotype in cases with expressed
compatibility of parents for HLA-genes
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NON-INVASIVE DIAGNOSTICS OF
ANEUPLOIDY OF A FETUS WITH
CIRCULATING TROPHOBLAST CELLS IN
MATERNAL BLOOD
14.00.00 Medical sciences
Description
Isolation of fetal cells from the blood of a pregnant
woman is more relevant for receiving the information
of the genome of a fetus and implementation in clinical
practice, non-invasive screening methods for prenatal
diagnosis. The work proposes efficient ways of sorting
trophoblasts circulating in maternal blood for the
diagnosis of fetal aneuploidy in early gestation by
analyzing microsatellite marker of the chromosomes
that most prone to numerical aberrations (13, 18, 21, X
and Y). A set of microsatellite markers allowed to
reveal aneuploidy in three pregnant women, and also
to exclude mosaicism and contamination of samples
with maternal cells. A retrospective analysis of data on
invasive cytogenetic studies (chorionic villus
sampling) confirmed the results of the study
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