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

Vijaya Kancherla; Lucita Tandaki; Manasvi Sundar; Anke Lux; Marian K Bakker; Jorieke EH Bergman; Eva Bermejo-Sánchez; Mark A Canfield; Marcia L Feldkamp; Boris Groisman; Paula Hurtado-Villa; Karin Källén; Danielle Landau; Nathalie Lelong; Jorge Lopez-Camelo; Pierpaolo Mastroiacovo; Margery Morgan; Osvaldo M Mutchinick; Amy E Nance; Wendy N Nembhard; Anna Pierini; Antonin Šípek; Erin B Stallings; Elena Szabova; Wladimir Wertelecki; Ignacio Zarante; Anke Rissmann

doi:10.1055/s-0042-1748318

American Journal of Perinatology, Table of Contents

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^*

¹Department of Epidemiology, Emory University Rollins School of Public Health, Atlanta, Georgia

,

Lucita Tandaki ^*

²Malformation Monitoring Centre Saxony-Anhalt, Medical Faculty, Otto-von-Guericke-University, Magdeburg, Germany

,

Manasvi Sundar

¹Department of Epidemiology, Emory University Rollins School of Public Health, Atlanta, Georgia

,

Anke Lux

³Institute for Biometrics and Medical Informatics, Medical Faculty, Otto-von-Guericke-University, Magdeburg, Germany

,

Marian K Bakker

⁴Department of Genetics, University of Groningen, University Medical Center Groningen, Eurocat Northern The Netherlands, Groningen, The Netherlands

,

Jorieke EH Bergman

⁴Department of Genetics, University of Groningen, University Medical Center Groningen, Eurocat Northern The Netherlands, Groningen, The Netherlands

,

Eva Bermejo-Sánchez

⁵ECEMC (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

⁶Birth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services, Austin, Texas

,

Marcia L Feldkamp

⁷Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah

,

Boris Groisman

⁸National 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

⁹Department of Basic Sciences of Health, School of Health, Pontificia Universidad Javeriana Cali, Colombia and Clínica Imbanaco, Cali, Colombia

,

Karin Källén

¹⁰National Board of Health and Welfare, Stockholm, Sweden

,

Danielle Landau

¹¹Department of Neonatology, Soroka Medical Center, Beer-Sheva, Israel

,

Nathalie Lelong

¹²Université 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

¹³ECLAMC, Center for Medical Education and Clinical Research (CEMIC-CONICET), Buenos Aires, Argentina

,

Pierpaolo Mastroiacovo

¹⁴International Center on Birth Defects, International Clearinghouse for Birth Defects Surveillance and Research, Rome, Italy

,

Margery Morgan

¹⁵CARIS, the Congenital Anomaly Register for Wales, Singleton Hospital, Swansea, Wales, United Kingdom

,

Osvaldo M Mutchinick

¹⁶RYVEMCE (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

¹⁷Utah Department of Health, Bureau of Children with Special Health Care Needs, Utah Birth Defects Network, Salt Lake City, Utah

,

Wendy N Nembhard

¹⁸Arkansas 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

¹⁹Institute of Clinical Physiology, National Research Council and Fondazione Toscana Gabriele Monasterio, Tuscany Registry of Congenital Defects, Pisa, Italy

,

Antonin Šípek

²⁰Department of Medical Genetics, Thomayer Hospital, Prague, Czech Republic

,

Erin B Stallings

²¹Division 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

²²Slovak Teratologic Information Centre (FPH), Slovak Medical University, Bratislava, Slovak Republic

,

Wladimir Wertelecki

²³OMNI-Net Ukraine, Rivne, Ukraine

,

Ignacio Zarante

²⁴Human Genetics Institute, Pontificia Universidad Javeriana, Bogotá, Colombia and Hospital Universitario San Ignacio, Bogotá, Colombia

,

Anke Rissmann

²Malformation Monitoring Centre Saxony-Anhalt, Medical Faculty, Otto-von-Guericke-University, Magdeburg, Germany

› Author Affiliations

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

Full Text

References

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