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Prenatal diagnosis of caudal regression syndrome at 15 weeks of gestation

https://doi.org/10.25789/YMJ.2021.76.31

Abstract

A description of the case of prenatal diagnosis of caudal regression syndrome at 15 weeks of pregnancy is presented. The description of ultrasound markers, stages of prenatal ultrasound diagnostics, taking into account the complications from external factors is given. The diagnosis is based on the basic signs characteristic of this syndrome. Due to the caudal regression syndrome's severe form, the family decided to terminate the pregnancy. Pathomorphological and postmortal X-ray examination of the abortus confirmed the echographic changes identified in the prenatal period.

About the Authors

O. G. Sidorova
YSC CMP
Russian Federation

Sidorova Oksana Gavrilevna – researcher, medical geneticist, diagnostic medical sonographer



N. V. Tomskaya
Yakutsk Republican Clinical Hospital
Russian Federation

Tomskaya Natalya Viktorovna – obstetrician-gynecologist, diagnostic medical sonographer



S. P. Oschepkova
Yakutsk Republican Clinical Hospital
Russian Federation

Oschepkova Sardana Petrovna – obstetrician-gynecologist



S. S. Prokopeva
Republican Hospital 1 - National Medical Center
Russian Federation

Prokopeva Sargylana Sergeevna – radiologist



A. N. Timofeeva
Republican Hospital 1 - National Medical Center
Russian Federation

Timofeeva Anastasiya Nikolaevna – Pathologist



References

1. Abnormalities in the development of the fetal bone system. Fetal syndromes / Mimon E., Romero R., Gezzi F. [et al.] // Echography in obstetrics and gynecology. Theory and practice / Edited by A. Fleischer, F. Maning, P. Genti, R. Romero. – Transl. from English. ed. by E.V. Fedorova, A.D. Lipman. - Ed. 6th. P.1. Moscow: Vidar, 2005.

2. Lazyuk G.I. Etiology and pathogenesis of congenital malformations / Lazyuk G.I. //Human teratology. - M.: Medicine, 1991.

3. Medvedev M.V. Prenatal echography. Differential diagnosis and prognosis / Medvedev M.V. - M.: Real Time, 2009. – P. 351-352.

4. Hereditary syndromes and medical genetic counseling: handbook. - 2nd ed. suppl./ Kozlova S.I., Semanova E., Demikova N.S. [et al.] - M.: Praktika, 1996. – P. 85-86.

5. Boulas M.M. Recognition of caudal regression syndrome/ Boulas M.M. // Adv. Neonatal. Care. – 2009. – Vol. 9. – P. 61-69.

6. Caudal dysplasia syndrome and sirenomelia: are they part of a spectrum?/ Bruce J.H., Romaguera R.L., Rodriguez M.M. [et al.] // Fetal Pediatr. Pathol. – 2009. – Vol. 28. – P. 109-131.

7. Duhamel B. From the mermaid to anal imperforation: the syndrome of caudal regression/ Duhamel B. // Arch. Dis. Child. – 1961. – Vol. 36. – P. 152-155

8. Harlow C.L. Lumbosacral agenesis: clinical characteristics, imaging, and embryogenesis / Harlow C.L., Partington M.D., Thieme G.A. // Pediatr. Neurosurg. – 1995. – Vol. 23. – P. 140-147.

9. Herring J.A. Caudal regression syndrome / Herring J.A. // Tachdjian’s Pediatric Orthopaedics. - 4th Ed. Elsevier. – 2007. – Vol. 2. – P. 1466-1471.

10. Joshi M. Lumbosacral agenesis/ Joshi M., Yadav S. // Ind. J. Radiol. Imaging. – 2005. – Vol. 15. – P. 251-254.

11. Prenatal diagnosis of caudal regression syndrome: a case report/ Aslan H., Yanik H., Celikaslan N. [et al.] // BMC Pregnancy Childbirth. – 2001. – Vol. 1. – P. 8.

12. Renshaw T.S. Sacral agenesis // J. Bone Joint Surg. Am. – 1978. – Vol. 60. – P. 373-383.

13. Vascular steal: the pathogenetic mechanism producing sirenomelia and associated defects of the viscera and soft tissues/ Stevenson R.E., Roger E. [et al.] // Pediatrics. – 1986.0 – Vol. 78. – P. 451.


Review

For citations:


Sidorova O.G., Tomskaya N.V., Oschepkova S.P., Prokopeva S.S., Timofeeva A.N. Prenatal diagnosis of caudal regression syndrome at 15 weeks of gestation. Yakut Medical Journal. 2021;(4):124-127. https://doi.org/10.25789/YMJ.2021.76.31

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ISSN 1813-1905 (Print)
ISSN 2312-1017 (Online)