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Am J Perinatol 2024; 41(09): 1143-1154
DOI: 10.1055/s-0042-1748318
Original Article

A Multicountry Analysis of Prevalence and Mortality among Neonates and Children with Bladder Exstrophy

Vijaya Kancherla   *
1   Department of Epidemiology, Emory University Rollins School of Public Health, Atlanta, Georgia
,
Lucita Tandaki    *
2   Malformation Monitoring Centre Saxony-Anhalt, Medical Faculty, Otto-von-Guericke-University, Magdeburg, Germany
,
Manasvi Sundar
1   Department of Epidemiology, Emory University Rollins School of Public Health, Atlanta, Georgia
,
Anke Lux
3   Institute for Biometrics and Medical Informatics, Medical Faculty, Otto-von-Guericke-University, Magdeburg, Germany
,
Marian K Bakker
4   Department of Genetics, University of Groningen, University Medical Center Groningen, Eurocat Northern The Netherlands, Groningen, The Netherlands
,
Jorieke EH Bergman
4   Department of Genetics, University of Groningen, University Medical Center Groningen, Eurocat Northern The Netherlands, Groningen, The Netherlands
,
Eva Bermejo-Sánchez
5   ECEMC (Spanish Collaborative Study of Congenital Malformations), UIAC (Unidad de Investigación sobre Anomalías Congénitas), Instituto de Investigación de Enfermedades Raras (IIER). Instituto de Salud Carlos III. Madrid, Spain
,
Mark A Canfield
6   Birth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services, Austin, Texas
,
Marcia L Feldkamp
7   Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah
,
Boris Groisman
8   National Network of Congenital Anomalies of Argentina (RENAC), National Center of Medical Genetics, National Administration of Laboratories and Health Institutes (ANLIS), National Ministry of Health, Buenos Aires, Argentina
,
Paula Hurtado-Villa
9   Department of Basic Sciences of Health, School of Health, Pontificia Universidad Javeriana Cali, Colombia and Clínica Imbanaco, Cali, Colombia
,
Karin Källén
10   National Board of Health and Welfare, Stockholm, Sweden
,
Danielle Landau
11   Department of Neonatology, Soroka Medical Center, Beer-Sheva, Israel
,
Nathalie Lelong
12   Université de Paris, Inserm U1153, Obstetrical, Perinatal and Pediatric Epidemiology Research Team (Epopé), Center for Epidemiology and Statistics Sorbonne Paris Cité (CRESS) Paris, France
,
Jorge Lopez-Camelo 
13   ECLAMC, Center for Medical Education and Clinical Research (CEMIC-CONICET), Buenos Aires, Argentina
,
Pierpaolo Mastroiacovo
14   International Center on Birth Defects, International Clearinghouse for Birth Defects Surveillance and Research, Rome, Italy
,
Margery Morgan
15   CARIS, the Congenital Anomaly Register for Wales, Singleton Hospital, Swansea, Wales, United Kingdom
,
Osvaldo M Mutchinick
16   RYVEMCE (Registry and Epidemiologic Surveillance of Congenital Malformations), Department of Genetics, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico
,
Amy E Nance
17   Utah Department of Health, Bureau of Children with Special Health Care Needs, Utah Birth Defects Network, Salt Lake City, Utah
,
Wendy N Nembhard
18   Arkansas Center for Birth Defects Research and Prevention and Arkansas Reproductive Health Monitoring System, University of Arkansas for Medical Sciences, Fay Boozman College of Public Health, Department of Epidemiology, Little Rock, Arkansas
,
Anna Pierini
19   Institute of Clinical Physiology, National Research Council and Fondazione Toscana Gabriele Monasterio, Tuscany Registry of Congenital Defects, Pisa, Italy
,
Antonin Šípek
20   Department of Medical Genetics, Thomayer Hospital, Prague, Czech Republic
,
Erin B Stallings
21   Division of Birth Defects and Infant Disorders, National Center on Birth Defects and Developmental Disabilities, US Centers for Disease Control and Prevention, Atlanta, Georgia
,
Elena Szabova
22   Slovak Teratologic Information Centre (FPH), Slovak Medical University, Bratislava, Slovak Republic
,
Wladimir Wertelecki
23   OMNI-Net Ukraine, Rivne, Ukraine
,
Ignacio Zarante
24   Human Genetics Institute, Pontificia Universidad Javeriana, Bogotá, Colombia and Hospital Universitario San Ignacio, Bogotá, Colombia
,
Anke Rissmann 
2   Malformation Monitoring Centre Saxony-Anhalt, Medical Faculty, Otto-von-Guericke-University, Magdeburg, Germany
› Author Affiliations Funding None.
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Abstract

Objective Bladder exstrophy (BE) is a rare but severe birth defect affecting the lower abdominal wall and genitourinary system. The objective of the study is to examine the total prevalence, trends in prevalence, and age-specific mortality among individuals with BE.

Study Design We conducted a retrospective cohort study. Data were analyzed from 20 birth defects surveillance programs, members of the International Clearinghouse for Birth Defects Surveillance and Research in 16 countries. Live births, stillbirths, and elective terminations of pregnancy for fetal anomaly (ETOPFA) diagnosed with BE from 1974 to 2014. Pooled and program-specific prevalence of BE per 100,000 total births was calculated. The 95% confidence intervals (CI) for prevalence were estimated using Poisson approximation of binomial distribution. Time trends in prevalence of BE from 2000 to 2014 were examined using Poisson regression. Proportion of deaths among BE cases was calculated on the day of birth, day 2 to 6, day 7 to 27, day 28 to 364, 1 to 4 years, and ≥5 years. Mortality analysis was stratified by isolated, multiple, and syndromic case status.

Results The pooled total prevalence of BE was 2.58 per 100,000 total births (95% CI = 2.40, 2.78) for study years 1974 to 2014. Prevalence varied over time with a decreasing trend from 2000 to 2014. The first-week mortality proportion was 3.5, 17.3, and 14.6% among isolated, multiple, and syndromic BE cases, respectively. The majority of first-week mortality occurred on the first day of life among isolated, multiple, and syndromic BE cases. The proportion of first-week deaths was higher among cases reported from programs in Latin America where ETOPFA services were not available.

Conclusion Prevalence of BE varied by program and showed a decreasing trend from 2000 to –2014. Mortality is a concern among multiple and syndromic cases, and a high proportion of deaths among cases occurred during the first week of life.

Key Points

  • Total prevalence of BE was 2.58 per 100,000 births.

  • Prevalence decreased from 2000 to 2014.

  • The first-week mortality was 9.3%.

Keywords

birth defects - bladder exstrophy - epidemiology - mortality - prevalence - surveillance

Note

The findings and conclusions in this report are those of the authors and do not necessarily represent the official position of the Centers for Disease Control and Prevention. This analysis has been replicated by Manasvi Sundar (Emory University).


* These authors contributed equally to this article.




Publication History

Received: 20 July 2021

Accepted: 18 February 2022

Article published online:
29 May 2022

© 2022. Thieme. All rights reserved.

Thieme Medical Publishers, Inc.
333 Seventh Avenue, 18th Floor, New York, NY 10001, USA

 

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