A preimplantation genetic testing of monogenic diseases. Description of clinical case

Igor Yu. Kogan; Pavel P. Iakovlev; Alexander M. Gzgzyan; Irina D. Mekina; Marianna A. Maretina; Tatyana E. Ivaschenko; Elena V. Misharina; Inna O. Krikheli

doi:10.17816/JOWD67192-95

Journal of obstetrics and women's diseases ›› 2018, Vol. 67 ›› Issue (1) : 92 -95. DOI: 10.17816/JOWD67192-95

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A preimplantation genetic testing of monogenic diseases. Description of clinical case

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Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott

PhD, AM RAM, Scientific Secretary

PhD student

MD, Head of Department Reproductive Technologies

Candidate of Biological Sciences. Research fellow of Department Reproductive Technologies

Junior Research Associate of the Laboratory of Prenatal Diagnostics of Congenial and Hereditary Diseases

Dr. Sci, Professor, Leading Researcher of the Laboratory of Prenatal Diagnostics of Congenial and Hereditary Diseases

PhD, Senior Researcher at the Department of Endocrinology

MD, Research fellow of Department Reproductive Technologies

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Abstract

Preimplantation genetic testing performed to analyze the chromosomal structural rearrangements, monogenic/single gene defects and aneuploidies. The aim of this study is to show the discussion of a clinical case of preimplantation genetic testing in the family of SMN1 gene mutation carriers with the subsequent birth of a healthy child.

Keywords

preimplantation genetic testing / monogenic diseases / spinal muscular atrophy

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Igor Yu. Kogan, Pavel P. Iakovlev, Alexander M. Gzgzyan, Irina D. Mekina, Marianna A. Maretina, Tatyana E. Ivaschenko, Elena V. Misharina, Inna O. Krikheli. A preimplantation genetic testing of monogenic diseases. Description of clinical case. Journal of obstetrics and women's diseases, 2018, 67(1): 92-95 DOI:10.17816/JOWD67192-95

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[1]	1.Zegers-Hochschild F, Adamson GD, Dyer S, et al. The Inter national Glossary on Infertility and Fertility Care, 2017. Fertil Steril. 2017;108(3):393-406. doi: 10.1016/j.fertnstert.2017.06.005.

[2]	2.Franasiak JM, Forman EJ, Hong KH, et al. Aneuploidy across individual chromosomes at the embryonic level in troph ectoderm biopsies: changes with patient age and chromosome structure. J Assist Reprod Genet. 2014;31(11):1501-1509. doi: 10.1007/s10815-014-0333-x.

[3]	3.Hassold T, Hall H, Hunt P. The origin of human aneuploidy: where we have been, where we are going. Hum Mol Genet. 2007;16 Spec No 2:R203-208. doi: 10.1093/hmg/ddm243.

[4]	4.Faravelli I, Nizzardo M, Comi GP, Corti S. Spinal muscular atrophy-recent therapeutic advances for an old challenge. Nat Rev Neurol. 2015;11(6):351-359. doi: 10.1038/nrneurol.2015.77.

[5]	5.Murray LM, Comley LH, Thomson D, et al. Selective vulnerability of motor neurons and dissociation of pre- and post-synaptic pathology at the neuromuscular junction in mouse models of spinal muscular atrophy. Hum Mol Genet. 2008;17(7):949-962. doi: 10.1093/hmg/ddm367.

[6]	6.Miguel-Aliaga I, Chan YB, Davies KE, van den Heuvel M. Disruption of SMN function by ectopic expression of the human SMN gene in Drosophila. FEBS Lett. 2000;486(2):99-102. doi: 10.1016/s0014-5793(00)02243-2.

[7]	7.Pearn J. Classification of Spinal Muscular Atrophies. Lancet. 1980;315(8174):919-922. doi: 10.1016/s0140-6736(80)90847-8.

[8]	8.Crawford TO. Spinal Muscular Atrophies. In: Jones HR, De Vivo DC, Darras BT, editors. Neuromuscular Disorders of Infancy, Childhood, and Adolescence. A Clinician’s Approach . London; 2003. P. 145-166.

[9]

9.Захарова Е.Е., Залетова В.В. Проведение биопсии эмбрио нов человека на стадии компактной морулы повышает диагностическую надежность преимплантационного генетического скрининга (ПГС) и обеспечивает высокую частоту наступления беременности (по данным 215 циклов ЭКО-ИКСИ с ПГС) // Проблемы репродукции. — 2013. — № 4. — C. 75–81. [Zakharova EE, Zaletova VV. Compact morula stage biopsy improves the diagnostic reliability of preimplantation genetic screening (pgs) and provides a high pregnancy rate (outcome of 215 cycles of ivf-icsi-pgs). Modern reproductive technologies. 2013;(4):75-81. (In Russ.)].

[10]	10.Gardner DK, Schoolcraft WB. Culture and transfer of human blastocysts. Curr Opin Obstet Gynecol. 1999;11(3):307-311. doi: 10.1097/00001703-199906000-00013.