Registration Number
0223U003842,
0119U002288
, R & D reports
Title
Genetic predispositions of regular and sporadic reproductive losses in humans.
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Head
Zastavna Danuta V.,
Registration Date
11-07-2023
Organization
State institution "Institute of Hereditary Pathology of the National Academy of Medical Sciences of Ukraine"
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The obtained results allow us to argue the extreme relevance of the multilevel study of genome structures involved in the mechanisms of self-reproduction of the human population. We propose to informative markers of predisposition to regular reproductive losses include the presence of chromosomal pathology in eliminated fetuses with karyotypes that are not found among live births and critically short telomeric regions of chromosomes. We consider HLA-genotyping of spouses with isolation of risk factors of alloimmune and autoimmune nature and KIR-HLA-C-genotyping of a woman and her lost pregnancy to be extremely informative for preconception prevention of repeated reproductive losses. For the purpose of preconception prevention of reproductive losses, genetic testing of persons at risk is appropriate. Our detection of 301 hereditary diseases by the new generation sequencing method (NGS) showed the carrier of mutated genes in 87.5% of subjects with reproductive history. To improve the system of prevention and early diagnosis of monogenic pathology, effective medical and genetic counseling, it is proposed to include genetic testing of families with reproductive losses to predict healthy offspring when planning a pregnancy.
Product Description
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Helner Nadiia V.
Huleyuk Nataliya L.
Zastavna Danuta
Lozynska Marya R.
Makukh Halyna Vasulivna
Sosnina Katerina Oleksandrivna
Terpylyak Oresta Igorivna
Tyrkus Marta
Tkach Iryna R.
Tretiak Bogdan
Chorna Liliia
Sharhorodska Yevgeniya
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2023-07-11
