Prospects for using exome sequencing to solve problems in human reproduction (Part II)


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Толық мәтін

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Рұқсат жабық Рұқсат берілді
Рұқсат жабық Рұқсат ақылы немесе тек жазылушылар үшін

Аннотация

Part 2 of the review considers various purposes of exome (targeted) sequencing to f ind the causes of reproductive losses, as well as the difficulties of using NGS in reproduction. The authors present their own data and literature ones on the use of NGS to identify lethal fetal phenotypes caused by autosomal recessive monogenic disorders (α-thalassemia; multiple pterygium syndrome, galactosialidosis; mucopolysaccharidosis type VII), autosomal dominant ones (thanatophoric dysplasia; type 2 osteogenesis imperfecta; achondroplasia; tuberous sclerosis 1) and X-linked diseases (incontinentia pigmenti, Goltz syndrome, Rett syndrome, immune dysregulation, polyendocrinopathy, and enteropathy). They thoroughly consider the use of NGS for preconception screening that allows optimization of algorithms to manage a future pregnancy: the choice of diagnostic procedures; recommendations for therapeutic abortion; counseling, pregnancy planning, donation, and prenatal genetic testing. The paper presents the features of and prospects for the introduction of NGS in practical reproductology. Conclusion: It is necessary to introduce exome sequencing in accordance with the concept of a clinical genetic reproduction passport, especially at the preconception stage, along with the already expanding neonatal screening, which will be able to increase birth rates, to ensure a safe pregnancy, and to enhance the reproductive potential of the Russian population.

Толық мәтін

Рұқсат жабық

Авторлар туралы

Oleg Glotov

O. Ott Research Institute of Obstetrics, Gynecology, and Reproductology; Pediatric Research and Clinical Center for Infectious Diseases, Federal Biomedical Agency

Email: olglotov@mail.ru
PhD, Senior Researcher at the Department of Genomic Medicine

Alexander Chernov

O. Ott Research Institute of Obstetrics, Gynecology, and Reproductology

Email: al.chernov@mail.ru
PhD, Researcher at the Department of Genomic Medicine

Andrey Glotov

O. Ott Research Institute of Obstetrics, Gynecology, and Reproductology

Email: anglotov@mail.ru
Dr. Bio. Sci, Head of the Department of Genomic Medicine

Vladislav Baranov

O. Ott Research Institute of Obstetrics, Gynecology, and Reproductology

Email: vsbar40@mail.ru
Dr. Med. Sci., Professor, Corresponding Member of the Russian Academy of Sciences, geneticist of the highest category, Chief Researcher of the Department of Genomic Medicine

Әдебиет тізімі

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