Osteogenesis imperfecta and pregnancy
Sviridova N.I., Tkachenko L.V., Verovskaya T.A., Skladanovskaya T.V., Shumakova N.I., Grammatikova O.A., Ryabchenko G.A., Shklyar A.L.
Relevance: Osteogenesis imperfecta, or “brittle bone disease”, is a rare inherited disorder with a highly variable spectrum of clinical manifestations. This disease is caused by a primary defect in the protein matrix of bones and connective tissue, which causes their osteopenia. This pathology occurs at a rate of 1 case per 20,000 births among pregnant women. Modern literature describes the cases of successful delivery of women with osteogenesis imperfecta; however, all practitioners note a wide range of complications of the underlying disease during pregnancy, which in some cases require its termination.
Case report: The clinical observation presents the characteristics of the course of pregnancy in a patient with osteogenesis imperfecta and the features of ultrasound diagnosis of this pathology in the fetus.
Conclusion: The described clinical observation of the course of pregnancy in a patient with osteogenesis imperfecta may be of interest to obstetrician-gynecologists when deciding on prolongation or termination of pregnancy. This case can also be of particular relevance to specialists in ultrasound diagnosis and medical genetics when considering possible options for diagnosing the inheritance of the main pathology by the fetus.
Authors’ contributions: Sviridova N.I., Tkachenko L.V., Verovskaya T.A. – developing the concept and design of the study, analyzing the material, writing and editing the text; Skladanovskaya T.V., Shklyar A.L. – searching and analyzing literary sources, writing and editing the text; Shumakova N.I., Grammatikova O.A., Ryabchenko O.A. – performing ultrasound and X-ray examinations, analysis of research results.
Conflicts of interest: The authors declare no possible conflicts of interest.
Funding: The study was conducted without sponsorship.
Ethical Approval: The study was approved by the Ethical Review Board of the Volgograd Regional Clinical Perinatal Center No.2, Volgograd, Russia.
Patient Consent for Publication: The patient provided informed consent for the publication of their data and associated images.
For citation: Sviridova N.I., Tkachenko L.V., Verovskaya T.A., Skladanovskaya T.V., Shumakova N.I., Grammatikova O.A., Ryabchenko G.A., Shklyar A.L. Osteogenesis imperfecta and pregnancy.
Akusherstvo i Ginekologiya/Obstetrics and Gynecology. 2024; (5): 166-170 (in Russian)
https://dx.doi.org/10.18565/aig.2024.11
Keywords
osteogenesis imperfecta
osteopenia
pregnancy
ultrasound diagnosis of fetal pathology
References
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Received 22.01.2024
Accepted 25.04.2024
About the Authors
Natalia I. Sviridova, Dr. Med. Sci, Head of the Department of Obstetrics and Gynecology, Institute of CMPE, Volgograd State Medical University, Ministry of Health of Russia, 400131, Russia, Volgograd, Fallen fighters sqr., 1, +7(8442)34-11-05, n.i.sviridova@yandex.ru, https://orcid.org/0000-0002-3175-4847Lyudmila V. Tkachenko, Dr. Med. Sci, Professor, Professor at the Department of Obstetrics and Gynecology, Institute of CMPE, Volgograd State Medical University,
Ministry of Health of Russia, 400131, Russia, Volgograd, Fallen fighters sqr., 1, +7(8442)34-11-05, tkachenko.fuv@mail.ru, https://orcid.org/0000-0002-1935-4277
Tatyana A. Verovskaya, Chief Physician, Volgograd Regional Clinical Perinatal Center No. 2, 400062, Russia, Volgograd, Marshal Vasilevsky str., 70, +7(8442)99-07-00, verovskayata@mail.ru
Tatyana V. Skladanovskaya, Ph.D., Associate Professor at the Department of Obstetrics and Gynecology, Institute of CMPE, Volgograd State Medical University,
Ministry of Health of Russia, 400131, Russia, Volgograd, Fallen fighters sqr., 1, +7(8442)34-11-05,yanechka2000@yandex.ru, https://orcid.org/0000-0002-1427-610X
Nina I. Shumakova, Head of the Gynecological Department, Volgograd Regional Clinical Perinatal Center No. 2, 400062, Russia, Volgograd, Marshal Vasilevsky str., 70, +7(8442)99-07-09, shumakova2004@mail.ru, https://orcid.org/0000-0002-5485-6176
Oksana A. Grammatikova, Ph.D., Head of Medical and Genetic Consultation, Volgograd Regional Clinical Perinatal Center № 2, +7 (8442)99-07-09, zav.mgk@vokpc2.ru, 400062, Russia, Volgograd, Marshal Vasilevsky, str. 70.
Galina A. Ryabchenko, Doctor at the Department of Medical-Genetic Consultation, Volgograd Regional Clinical Perinatal Center No. 2, 400062, Russia, Volgograd,
Marshal Vasilevsky str., 70, +7(8442)99-07-09, vladimir.musin43@mail.ru
Alexey L. Shklyar, Ph.D., Associate Professor at the Department of Obstetrics and Gynecology, Institute of CMPE, Volgograd State Medical University, Ministry of Health of Russia; Deputy Chief Physician, Volgograd Regional Clinical Perinatal Center No. 2, 400062, Russia, Volgograd, Marshal Vasilevsky str., 70, +7(8442)99-07-09,
vokpc2@yandex.ru, https://orcid.org/0000-0003-3081-2782
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