Septated fetal bladder in a case of 2q13 deletion
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María Montenegro del Moral
Abstract
Objectives
We aim to report a case of a septated urinary bladder with kidney dysplasia in a fetus presenting with 2q13 microdeletion. Several genes have been related to urogenital malformations. Reports of fetal multi-septated urinary bladder are extremely rare. Deletion 2q13 is responsible for a wide range of phenotypic manifestations but not commonly urogenital diseases.
Case presentation
We present a case of a primigravida with no contributing history referred to our center for suspected fetal kidney dysplasia. Ultrasound scan at 25 weeks gestation revealed septated urinary bladder and severe pelvic renal dilatation. CGH array showed de novo deletion 2q13. Upon counseling the parents opted for termination. Autopsy confirmed the urinary tract findings and normal external female genitalia.
Conclusions
To the best of our knowledge this is the first report of a 2q13 microdeletion and septated bladder. We suggest offering genetic counseling at the finding of a septated bladder and determine prognosis upon renal parenchymal destruction.
Research funding: None declared.
Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
Competing interests: Authors state no conflict of interest.
Informed consent: Informed consent was exempted by the local ethics commitee.
Ethical approval: Research involving human subjects complied with all relevant national regulations, institutional policies and is in accordance with the tenets of the Helsinki Declaration (as revised in 2013), and has been approved by the authors’ Institutional Review Board or equivalent committee.
References
1. Capone, VP, Morello, W, Taroni, F, Montini, G. Genetics of congenital anomalies of the kidney and urinary tract: the current state of play. Int J Mol Sci 2017;18:796–810. https://doi.org/10.3390/ijms18040796.Suche in Google Scholar
2. Galifer, R, Kalfa, N, Veyrac, C, López, C. Malformations vésicales rares. Ann Urol (Paris) 2003;37:304–21. https://doi.org/10.1016/j.anuro.2003.06.001.Suche in Google Scholar
3. Benzerhoun, S. Les malformations vésicales rares. À propos de 19 cases (Master’s thesis). Université Mohammed V. Rabat, 2012. Available from:https://ao.um5.ac.ma/xmlui/handle/123456789/633.Suche in Google Scholar
4. https://www.rarechromo.org/disorder-guides [Accessed 12th April 2020].Suche in Google Scholar
5. https://genome.ucsc.edu/index.html [Accessed 12th April 2020].Suche in Google Scholar
6. https://omim.org/ [Accessed 12th April 2020].Suche in Google Scholar
7. Wolf, MT. Nephronophthisis and related syndromes. Curr Opin Pediatr 2015;27:201–11. https://doi.org/10.1097/mop.0000000000000194.Suche in Google Scholar
8. Gibbens, JD, Morton, M, Villanueva, CA, Satpathy, H. Antepartum diagnosis of complete fetal bladder duplication in the sagittal plane. J Ultrasound Med 2015;34:737–39. https://doi.org/10.7863/ultra.34.4.737.Suche in Google Scholar
9. Williams, DH, Fitchev, P, Policarpio-Nicolas, MLC, Wang, E, Brannigan, RE, Crawford, SE. Urorectal septum malformation sequence. Urology 2005: 66:657.e5–657.e7. https://doi.org/10.1016/j.urology.2005.03.003.Suche in Google Scholar
Supplementary Material
The online version of this article offers supplementary material (https://doi.org/10.1515/crpm-2020-0026).
© 2020 Walter de Gruyter GmbH, Berlin/Boston
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Artikel in diesem Heft
- Case Reports – Obstetrics
- Fetal pulmonary choristoma: report of first case and literature review
- Ultrasound prenatal diagnosis of a de novo 14q distal duplication associated with foetal anomalies: a case report
- Prenatal diagnosis of Kleefstra syndrome
- Cardiac implant and the risk of infective endocarditis in pregnancy
- Iatrogenic fetal goiter. Conservative management and spontaneous resolution
- Management in cases of large uterine myomas in pregnancy
- Significantly enlarged varix in the free-loop of the umbilical cord during the second trimester
- A case report of co-infection with rhinovirus and SARS-CoV-2 in pregnancy
- Monoamniotic twins pregnancy complicated by a fetal congenital heart defect – a challenge for perinatal decisions
- Favorable outcome after nine minutes of shoulder dystocia preceded by a tight nuchal cord
- Circumvallate placenta and abnormal cord insertion as risk factors for intrauterine growth restriction and preterm birth: a case report
- A rare case of intra-uterine blood transfusion for fetal anemia caused by a giant placental chorioangioma
- Septated fetal bladder in a case of 2q13 deletion
- A case of prenatal diagnosis of single umbilical artery due to thrombosis diagnosed by the ultrasound finding of “wink-sign”
- Ultrasound diagnosis of myelomeningocele: the role of 3D ultrasonography in determining surficial status of the pathological lesion
- Pragmatic approach and variations in the management of pregnant women with type 1 diabetes mellitus on insulin pump: a case series
- A great pre-eclampsia masquerader. Hemophagocytic lymphohistiocytosis (HLH) presenting in pregnancy
- Survival of both twins in a pregnancy complicated by pre-viable cord prolapse at 21 weeks of gestation
- A case report of a pregnant woman diagnosed with intrahepatic cholangiocarcinoma (ICC) complicated by opioid tolerance
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