Osteogenesis imperfecta and pregnancy

Natalia I. Sviridova; Свиридова Наталия Ивановна; Lyudmila V. Tkachenko; Ткаченко Людмила Владимировна; Tatyana A. Verovskaya; Веровская Татьяна Александровна; Tatyana V. Skladanovskaya; Складановская Татьяна Валерьевна; Nina I. Shumakova; Шумакова Нина Ивановна; Oksana A. Grammatikova; Грамматикова Оксана Александровна; Galina A. Ryabchenko; Рябченко Галина Александровна; Alexey L. Shklyar; Шкляр Алексей Леонидович

doi:10.18565/aig.2024.11

Osteogenesis imperfecta and pregnancy

Authors: Sviridova N.I.¹, Tkachenko L.V.¹, Verovskaya T.A.², Skladanovskaya T.V.¹, Shumakova N.I.², Grammatikova O.A.², Ryabchenko G.A.², Shklyar A.L.¹^,2
Affiliations:
1. Volgograd State Medical University, Ministry of Health of Russia
2. Volgograd Regional Clinical Perinatal Center No.2
Issue: No 5 (2024)
Pages: 166-170
Section: Clinical Notes
URL: https://journals.eco-vector.com/0300-9092/article/view/633765
DOI: https://doi.org/10.18565/aig.2024.11
ID: 633765

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Abstract

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.

Keywords

osteogenesis imperfecta, osteopenia, pregnancy, ultrasound diagnosis of fetal pathology

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About the authors

Natalia I. Sviridova

Volgograd State Medical University, Ministry of Health of Russia

Author for correspondence.
Email: n.i.sviridova@yandex.ru
ORCID iD: 0000-0002-3175-4847

Dr. Med. Sci, Head of the Department of Obstetrics and Gynecology, Institute of CMPE

Russian Federation, Volgograd

Lyudmila V. Tkachenko

Volgograd State Medical University, Ministry of Health of Russia

Email: tkachenko.fuv@mail.ru
ORCID iD: 0000-0002-1935-4277

Dr. Med. Sci, Professor, Professor at the Department of Obstetrics and Gynecology, Institute of CMPE

Russian Federation, Volgograd

Tatyana A. Verovskaya

Volgograd Regional Clinical Perinatal Center No.2

Email: verovskayata@mail.ru

Chief Physician

Russian Federation, Volgograd

Tatyana V. Skladanovskaya

Volgograd State Medical University, Ministry of Health of Russia

Email: yanechka2000@yandex.ru
ORCID iD: 0000-0002-1427-610X

Ph.D., Associate Professor at the Department of Obstetrics and Gynecology, Institute of CMPE

Russian Federation, Volgograd

Nina I. Shumakova

Volgograd Regional Clinical Perinatal Center No.2

Email: shumakova2004@mail.ru
ORCID iD: 0000-0002-5485-6176

Head of the Gynecological Department

Russian Federation, Volgograd

Oksana A. Grammatikova

Volgograd Regional Clinical Perinatal Center No.2

Email: zav.mgk@vokpc2.ru

Ph.D., Head of Medical and Genetic Consultation

Russian Federation, Volgograd

Galina A. Ryabchenko

Volgograd Regional Clinical Perinatal Center No.2

Email: vladimir.musin43@mail.ru

Doctor at the Department of Medical-Genetic Consultation

Russian Federation, Volgograd

Alexey L. Shklyar

Volgograd State Medical University, Ministry of Health of Russia; Volgograd Regional Clinical Perinatal Center No.2

Email: vokpc2@yandex.ru
ORCID iD: 0000-0003-3081-2782

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

Russian Federation, Volgograd; Volgograd

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