Natalya Mikhaylovna Dvoynova

• Medical Professional at Research Institute of Obstetrics and Gynecology named after D.O. Ott

Ganglioside-monosialic acid (GM1) gangliosidosis (ICD-10: E75.1; OMIM: 230500, 230600, 230650) is a rare autosomal recessive hereditary disease, lysosomal storage disorder caused by mutations in the GLB1 gene that lead to the absence or insufficiency of β-galactosidase. In this study, we report a case of a Russian family with a history of GM1 gangl...

Преконцепционный скрининг (ПС) – это комплекс мероприятий, направленных на установление групп высокого риска и профилактику рождения детей с генетическими заболеваниями в этих группах. В рамках программ преконцепционного генетического скрининга выполняется исследование образцов биоматериала будущих родителей, которое обычно включает цитогенетическо...

To date, the active introduction of genetic technologies into practical medicine continues in the healthcare sector. The number of genetic diseases is growing, for which different gene therapy and targeted therapy options are emerging. At the same time, the genetic burden in the population is also increasing. The only way to reduce it is the univer...

Currently, one of the most promising areas of medicine is the development and implementation of new biomedical technologies in the field of human reproduction with the involvement of resources of biobanks and biocollections as well as modern genetic technologies. In this review, we considered the key dimensions of personalized medicine, such as bio...

Clinical tests based on whole-genome sequencing are generally focused on a single task approach, testing one or several parameters, although whole-genome sequencing (WGS) provides us with large data sets that can be used for many supportive analyses. In spite of low genome coverage, data of WGS-based non-invasive prenatal testing (NIPT) contain ful...

Представлены результаты оригинальной технологии использования неинвазивного пренатального скрининга на основе полногеномного секвенирования внеклеточной ДНК (вкДНК) плода в материнской крови. Охарактеризованы основные параметры технологии и предложены новые возможности ее использования. The results of the original technology of non-invasive prenata...

We report on the phenotype and the reproductive history of an adult female patient with an unbalanced karyotype: 8p23 and 18p11.3 terminal deletions and 8p22 duplication. The indication for karyotyping of the 28-year-old patient was a structural rearrangement in her miscarriage specimen: 45,ХХ,der(8;18)t(8;18)(p23;p11.3). Unexpectedly, the patient...

In recent years, noninvasive prenatal testing (NIPT) for fetal chromosomal abnormalities has come into wide use. NIPT allows detection of fetal chromosomal abnormalities without invasive sampling of fetal material: by analyzing cell-free fetal DNA in maternal blood. Here, we report on the pilot results of using NIPT at the D.O. Ott Research Institu...