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

Glotov O.S., Chernov A.N., Glotov A.S., Baranov V.S.

1) D.O. Ott Research Institute of Obstetrics, Gynecology, and Reproductology, Saint Petersburg, Russia; 2) Pediatric Research and Clinical Center for Infectious Diseases, Federal Biomedical Agency, Saint Petersburg, Russia
Part 2 of the review considers various purposes of exome (targeted) sequencing to find 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.

Keywords

NGS
exome
reproduction genetics
infertility
reproductive losses
preconception screening
clinical genetic passport
monogenic diseases

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Received 19.09.2022

Accepted 02.11.2022

About the Authors

Oleg S. Glotov, PhD, Senior Researcher at the Department of Genomic Medicine, D.O. Ott’s Research Institute Institute of Obstetrics, Gynecology, and Reproductology, 199034, Russia, Saint-Petersburg, Mendeleevskaya line, 3; Head of the Department of Experimental Medical Virology, Molecular Genetics and Biobanking, Pediatric Research and Clinical Center for Infectious Diseases, 197022, Russia, Saint-Petersburg, Professor Popov str., 9, olglotov@mail.ru, https://orcid.org/0000-0002-0091-2224
Alexander N. Chernov, PhD, Researcher at the Department of Genomic Medicine, D.O. Ott’s Research Institute Institute of Obstetrics, Gynecology, and Reproductology, al.chernov@mail.ru, https://orcid.org/0000-0003-2464-7370, 199034, Russia, Saint-Petersburg, Mendeleevskaya line, 3.
Andrey S. Glotov, Dr. Bio. Sci, Head of the Department of Genomic Medicine, D.O. Ott’s Research Institute of Obstetrics, Gynecology, and Reproductology,
anglotov@mail.ru, https://orcid.org/0000-0002-7465-4504, 199034, Russia, Saint-Petersburg, Mendeleevskaya line, 3.
Vladislav S. Baranov , 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, D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, +7(921)337-77-96, vsbar40@mail.ru,
199034, Russia, St. Petersburg, Mendeleevskaya line, 3.
Corresponding author: Oleg S. Glotov, olglotov@mail.ru

Authors’ contributions: Glotov O.S., Glotov A.S. – writing the text; Chernov A.N., Baranov V.S. – editing.
Conflicts of interest: The authors declare that there are no conflicts of interest.
Funding: The investigation has been supported by the Ministry of Science and Higher Education of the Russian Federation (“Multicenter Research Collection of Bioresources “Human Reproductive Health”” Project; Contract No. 075-15-2021-1058 dated September 28, 2021).
For citation: Glotov O.S., Chernov A.N., Glotov A.S., Baranov V.S. Prospects for using exome sequencing to solve problems in human reproduction (Part II).
Akusherstvo i Ginekologiya/Obstetrics and Gynecology. 2022; 12: 40-45 (in Russian).
https://dx.doi.org/10.18565/aig.2022.220

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