Maternal and fetal risk factors for bladder exstrophy: A nationwide Swedish case-control study

Engberg, Gisela Reinfeldt; Mantel, Ängla; Fossum, Magdalena; Nordenskjöld, Agneta

doi:10.1016/j.jpurol.2016.05.035

Cited by 13 publications

(13 citation statements)

References 123 publications

(153 reference statements)

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“…Bladder exstrophy (BE), a severe lower midline ventral defect, includes a spectrum of urological abnormalities in which all or part of the abdominal wall fails to close, resulting in the bladder and part of the urethra being exposed. Additional features of BE include pelvic bone malformations, widened pubic bones, cleft clitoris and shortened vagina in female infants, and epispadias in male infants (Ebert et al, 2009; Reinfeldt Engberg et al, 2016). The estimated prevalence of BE varies from 0.5 to 4.6 per 100,000 live births (Siffel et al, 2011).…”

Section: Introductionmentioning

confidence: 99%

“…The estimated prevalence of BE varies from 0.5 to 4.6 per 100,000 live births (Siffel et al, 2011). In most (Higgins, 1962; ICBDMS, 1987; Lattimer & Smith, 1966; Nelson et al, 2005; Reinfeldt Engberg et al, 2016; Reutter et al, 2011; Shapiro et al, 1984; Yang et al, 1994), but not all studies (Nelson et al, 2005; Yang et al, 1994), male predominance has been reported, ranging from 1.5 to 6.0:1.…”

Section: Introductionmentioning

confidence: 99%

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Exome sequencing of child–parent trios with bladder exstrophy: Findings in 26 children

Pitsava

Feldkamp

Pankratz

et al. 2021

American J of Med Genetics Pt A

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Bladder exstrophy (BE) is a rare, lower ventral midline defect with the bladder and part of the urethra exposed. The etiology of BE is unknown but thought to be influenced by genetic variation with more recent studies suggesting a role for rare variants. As such, we conducted paired-end exome sequencing in 26 child/mother/ father trios. Three children had rare (allele frequency ≤ 0.0001 in several public databases) inherited variants in TSPAN4, one with a loss-of-function variant and two with missense variants. Two children had loss-of-function variants in TUBE1. Four children had rare missense or nonsense variants (one per child) in WNT3, CRKL, MYH9, or Paul A. Romitti and James L. Mills were co-senior authors.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Exome sequencing of child–parent trios with bladder exstrophy: Findings in 26 children

Pitsava

Feldkamp

Pankratz

et al. 2021

American J of Med Genetics Pt A

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“…Lastly, a Swedish registry-based study, partly coinciding with our study period, reported no specific trend to indicate either an increase or decrease in BE prevalence from 1973 to 2011. 28…”

Section: Discussionmentioning

confidence: 99%

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

et al. 2022

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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. Conclusions 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

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“…A significantly higher proportion of cases had a birth weight <1500 g compared with controls, and older maternal age appeared to be the only significant risk factor. 12…”

Section: Introductionmentioning

confidence: 99%

Contemporary issues relating to transitional care in bladder exstrophy

O’Kelly

Keefe

Herschorn

et al. 2018

CUAJ

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Maternal and fetal risk factors for bladder exstrophy: A nationwide Swedish case-control study

Cited by 13 publications

References 123 publications

Exome sequencing of child–parent trios with bladder exstrophy: Findings in 26 children

Exome sequencing of child–parent trios with bladder exstrophy: Findings in 26 children

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

Contemporary issues relating to transitional care in bladder exstrophy

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