Journal of obstetrics and women's diseasesJournal of obstetrics and women's diseases1684-04611683-9366Eco-Vector837110.17816/JOWD67192-95Research ArticleA preimplantation genetic testing of monogenic diseases. Description of clinical caseKoganIgor Yu.<p>PhD, AM RAM, Scientific Secretary</p>ikogan@mail.ruIakovlevPavel P.<p>PhD student</p>iakovlevpp@gmail.comGzgzyanAlexander M.<p>MD, Head of Department Reproductive Technologies</p>iagmail@ott.ruMekinaIrina D.<p>Candidate of Biological Sciences. Research fellow of Department Reproductive Technologies</p>iagmail@ott.ruMaretinaMarianna A.<p>Junior Research Associate of the Laboratory of Prenatal Diagnostics of Congenial and Hereditary Diseases</p>marianna0204@gmail.comIvaschenkoTatyana E.<p>Dr. Sci, Professor, Leading Researcher of the Laboratory of Prenatal Diagnostics of Congenial and Hereditary Diseases</p>marianna0204@gmail.comMisharinaElena V.<p>PhD, Senior Researcher at the Department of Endocrinology</p>mishellena@gmail.comKrikheliInna O.<p>MD, Research fellow of Department Reproductive Technologies</p>iagmail@ott.ruResearch Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott15032018671929515032018Copyright © 2018, Kogan I.Y., Iakovlev P.P., Gzgzyan A.M., Mekina I.D., Maretina M.A., Ivaschenko T.E., Misharina E.V., Krikheli I.O.2018<p>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.</p>preimplantation genetic testingmonogenic diseasesspinal muscular atrophyпреимплантационное генетическое тестированиемоногенные болезниспинальная мышечная атрофия[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. 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. 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. 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. 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. 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. Pearn J. Classification of Spinal Muscular Atrophies. Lancet. 1980;315(8174):919-922. doi: 10.1016/s0140-6736(80)90847-8.][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. 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. 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.]