ACADEMIC AND RESEARCH PEER-REVIEWED MEDICAL JOURNALISSN 1727-2378 (Print)         ISSN 2713-2994 (Online)
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Pre-implantation Embryo Testing Using the Next Generation Sequencing in Couples with Karyotype Translocation

DOI:10.31550/1727-2378-2020-19-1-25-29
For citation: Glinkina Zh.I., Kulakova E.V., Dmitrieva N.V., Mosesova Yu.E., Gubaeva Z.M., Gohberg Ya.A. Pre-implantation Embryo Testing Using the Next Generation Sequencing in Couples with Karyotype Translocation. Doctor.Ru. 2020; 19(1): 25–29. (in Russian) DOI: 10.31550/1727-2378-2020-19-1-25-29
4 February 11:21

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.

Received: 26.09.2019
Accepted: 29.11.2019

Zh.I. Glinkina (Corresponding author) — Hi-Tech Genetics; 11/1 Leninskiy Prospect, Moscow, Russian Federation 119532. eLIBRARY.RU SPIN: 3567-5703. E-mail: janna435@yandex.ru

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: evkulakova@mail.ru

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: dmitrieva-doc@yandex.ru

Yu.E. Mosesova — NEXT GENERATION CLINIC; 3/3 Krasnoselskaya Str., Moscow, Russian Federation 107140. E-mail: mosesiva1@mail.ru

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: zalinagubaeva@mail.ru

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.yaelgokhberg@g.mail.ru


Доктор.ру

Fig. Analyses examples of trophoblast cells sequencing results using Illumina-based NGS and BlueFluse Multi software in patients with chromosomal karyotype karyotype. A — Seq(1q42->1q44)×3, (5q13->5q35.3)×1, (X)×2. Additional genetic material at 1q42->1q44 section of chromosome 1 and missing genetic material at 5q13->5q35.3 section of chromosome 5. Б — Seq(5q23.3-5q35.3)×1, (20p13-20p12.1)×3, (X)×2. Missing genetic material at 5q23.3-5q35.3 section of chromosome 5 and additional genetic material at 20p13-20p12.1 section of chromosome 20. В — Seq (2q32.2->2q37.2)×3, (7q33->7q36.3)×1, (Х)×2. Additional genetic material at 2q32.2->2q37.2 section of chromosome 2 and missing genetic material at 7q33->7q36.3 section of chromosome 7. Г — Seq (4q21.1-> 4q35.2)×1, (6p25.3->6p21.1)×3, (XY)×1. Missing genetic material at 4q21.1->4q35.2 section of chromosome 4 and additional genetic material at 6p25.3->6p21.1 section of chromosome 6

ris5_1.jpg

Table 1
Results of pre-implantation genetic testing of structural recombinations using the Next Generation Sequencing in couples, where one partner is a chromosomal translocation carrier

t5_1.jpg

Table 2
Structure of chromosomal pathology identified with pre-implantation genetic testing of structural recombinations using the Next Generation Sequencing in couples, where one partner is a chromosomal translocation carrier

t5_3.jpg

Table 3
Statistical significance of differences between experimental groups, p

t5_3.jpg

4 February 11:21
LITERATURE
  1. Jacobs P.A., Melville M., Ratcliffe S., Keay A.J., Syme J. A cytogenetic survey of 11,680 newborn infants. Ann. Hum. Genet. 1974; 37(4): 359–76. DOI: 10.1111/j.1469-1809.1974.tb01843.x
  2. Nielsen J., Wohlert M. Chromosome abnormalities among 34 910 newborn children: results from a 13-year incidence study in Arthus, Denmark. Hum. Gen. 1991; 87(1): 81–3.
  3. Huang C., Jiang W., Zhu Y., Li H., Lu J., Yan J. et al. Pregnancy outcomes of reciprocal translocation carriers with two or more unfavorable pregnancy histories: before and after preimplantation genetic testing. J. Assist. Reprod. Genet. 2019; 36(11): 2325–31. DOI: 10.1007/s10815-019-01585-9
  4. Lammers J., Reignier A., Splingart C., Moradkhani K., Barrière P., Fréour T. Morphokinetic parameters in hromosomal translocation carriers undergoing preimplantation genetic testing. Reprod. Biomed. Online. 2019; 38(2): 177–83. DOI: 10.1016/j.rbmo.2018.11.006
  5. Wang J., Li D., Xu Z., Diao Z., Zhou J., Lin F. et al. Analysis of meiotic segregation modes in biopsied blastocysts from preimplantation genetic testing cycles of reciprocal translocations. Mol. Cytogenet. 2019; 12: 11. DOI: 10.1186/s13039-019-0423-7
  6. Fodina V., Dudorova A., Alksere B., Dzalbs A., Vedmedovska N., Andersone S. et al. The application of PGT-A for carriers of balanced structural chromosomal rearrangements. Gynecol. Endocrinol. 2019; 35(suppl.1): S18–23. DOI: 10.1080/09513590.2019.1632091
  7. Chow J.F.C., Yeung W.S.B., Lee V.C.Y., Lau E.Y.L., Ng E.H.Y. Evaluation of preimplantation genetic testing for chromosomal structural rearrangement by a commonly used next generation sequencing workflow. Eur. J. Obstet. Gynecol. Reprod. Biol. 2018; 224: 66–73. DOI: 10.1016/j.ejogrb.2018.03.013
  8. Brunet B.C.F.K., Shen J., Cai L., Xie J., Cui Y., Liu J. et al. Preimplanta­tion genetic testing for complex chromosomal rearrangement carriers by next-generation sequencing. Reprod. Biomed. Online. 2018; 37(3): 375–82. DOI: 10.1016/j.rbmo.2018.07.001

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