Study Objective: to determine the rate and structure of chromosomal abnormalities using Next Generation Sequencing (NGS) in embryos obtained with the help of assisted reproductive technologies (ART) in couples with chromosomal translocations.
Study Design: observational cross-sectional study.
Materials and Methods. Study material was trophoblast cells of 236 embryo from 54 couples, where one partner had modified karyotype; patients’ age was 28 to 42 years. Diagnostics was performed under NGS method using MiSeq device (Illumina). Data were processed with BlueFluse Multi software.
Study Results. Embryos with pathologies were statistically more numerous in couples with reciprocal karyotype translations. The share of embryos with aneuploidy of chromosomes not involved into translocation was statistically higher in couples with Robertsonian karyotype translocations.
Conclusion. Illumina-based NGS is a useful preventive method in pre-implantation genetic testing of structural recombinations; it can be recommended to prevent miscarriage and delivery of a sick child during ART programs in couples with modified karyotype.
Contribution: Glinkina, Zh.I. — conduct of the genetic research and data interpretation, patient ART counselling with pre-implantation genetic testing; Kulakova, E.V. — ART program implementation (stimulation, oocyte acquisition, etc.) in patients with genetic disorders, patient counselling, statistical data processing; Dmitrieva, N.V., Mosesova, Yu.E. and Gubaeva, Z.M. — ART program implementation (stimulation, oocyte acquisition, etc.) in patients with genetic disorders, medical records handling, patient counselling; Gohberg, Ya.A. — medical records handling, literature review.
Conflict of interest: The authors declare that they do not have any conflict of interests.
Zh.I. Glinkina (Corresponding author) — Hi-Tech Genetics; 11/1 Leninskiy Prospect, Moscow, Russian Federation 119532. eLIBRARY.RU SPIN: 3567-5703. E-mail: firstname.lastname@example.org
E.V. Kulakova — V.I. Kulakov National Medical Scientific Centre of Obstetrics, Gynecology and Perinatal Medicine of the Ministry of Health of the Russian Federation; 4 Academician Oparin Str., Moscow, Russian Federation 117997. eLIBRARY.RU SPIN: 8160-9932. E-mail: email@example.com
N.V. Dmitrieva — Academic Reproduction and Gynecology Clinics “Healthy me”, 42/1 Andropov Prospect, Moscow, Russian Federation 115487. People’s Friendship University of Russia; 6 Miklukho-Maklay Str., Moscow, Russian Federation 117198. E-mail: firstname.lastname@example.org
Yu.E. Mosesova — NEXT GENERATION CLINIC; 3/3 Krasnoselskaya Str., Moscow, Russian Federation 107140. E-mail: email@example.com
Z.M. Gubaeva — V.V. Veresaev Municipal Clinical Hospital at Moscow Healthcare Department; 10 Lobnenskaya Str., Moscow, Russian Federation 127644. eLIBRARY.RU SPIN: 3707-6467. E-mail: firstname.lastname@example.org
Ya.A. Gohberg — V.I. Kulakov National Medical Scientific Centre of Obstetrics, Gynecology and Perinatal Medicine of the Ministry of Health of the Russian Federation; 4 Academician Oparin Str., Moscow, Russian Federation 117997. eLIBRARY.RU SPIN: 2548-1682. E-mail: Dr.email@example.com