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Eur J Pediatr Surg 2021; 31(06): 468-471
DOI: 10.1055/s-0041-1740336
Review Article

Genetic Counseling for Bladder Exstrophy-Epispadias Complex

Heiko Reutter
1   Division of Neonatology and Pediatric Intensive Care Medicine, Department of Pediatric and Adolescent Medicine, Friedrich-Alexander-University Erlangen-Nürnberg, Erlangen, Germany
,
Gundela Holmdahl
2   Unit of Pediatric Oncology and Pediatric Surgery, Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden
3   Department of Pediatric Surgery, Karolinska University Hospital, Astrid Lindgren Children's Hospital, Stockholm, Sweden
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Abstract

Bladder exstrophy-epispadias complex (BEEC) represents the severe end of the uro-rectal malformation spectrum and has profound impact on continence, sexual, and renal function. Treatment of BEEC is primarily surgical, and the main goals are safe closure of the abdominal wall, urinary continence while preserving renal function, and adequate cosmetic and functional genital reconstruction. Psychosocial and psychosexual outcomes and adequate health-related quality of life depend on long-term multidisciplinary care. The overall outcome is now considered very positive and affected individuals usually lead self-determined and independent lives with the desire to start their own families later in life. Certainty about the risk of recurrence and the provision of information about the current state of knowledge about the identified genetic causes with high penetrance will have an impact on family planning for healthy parents with an affected child and for affected individuals themselves. This review addresses this information and presents the current state of knowledge.

Keywords

bladder exstrophy-epispadias complex - genetic counseling - recurrence risk - genetic testing


Publication History

Received: 16 October 2021

Accepted: 21 October 2021

Article published online:
15 December 2021

© 2021. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

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