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

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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.


Igor Yu. Kogan

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

Author for correspondence.
Email: ikogan@mail.ru

Russian Federation, Saint Petersburg

PhD, AM RAM, Scientific Secretary

Pavel P. Iakovlev

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

Email: iakovlevpp@gmail.com

Russian Federation, Saint Petersburg

PhD student

Alexander M. Gzgzyan

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

Email: iagmail@ott.ru

Russian Federation, Saint Petersburg

MD, Head of Department Reproductive Technologies

Irina D. Mekina

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

Email: iagmail@ott.ru

Russian Federation, Saint Petersburg

Candidate of Biological Sciences. Research fellow of Department Reproductive Technologies

Marianna A. Maretina

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

Email: marianna0204@gmail.com

Russian Federation, Saint Petersburg

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

Tatyana E. Ivaschenko

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

Email: marianna0204@gmail.com

Russian Federation, Saint Petersburg

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

Elena V. Misharina

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

Email: mishellena@gmail.com

Russian Federation, Saint Petersburg

PhD, Senior Researcher at the Department of Endocrinology

Inna O. Krikheli

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

Email: iagmail@ott.ru

Russian Federation, Saint Petersburg

MD, Research fellow of Department Reproductive Technologies

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Copyright (c) 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.

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