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A NATIONWIDE REGISTER STUDY ON MATERNAL AND FOETAL FACTORS IN
BLADDER EXSTROPHY
Gisela REINFELDT ENGBERG, ängla MANTEL, Magdalena FOSSUM and Agneta NORDENSKJÖLD
Karolinska Institute, Womens and childrens health, Stockholm, SWEDEN
PURPOSE
Bladder exstrophy is a rare congenital complex malformation where the underlying cause is largely unknown with both
environmental and genetic mechanisms involved.
The aim of this study was to conduct a nationwide epidemiological study related to maternal and foetal risk factors of
bladder exstrophy in Sweden 1973-2011.
MATERIAL AND METHODS
120 patients were identified in the Medical Birth Register with ICD codes; 753.50, 753F and Q64.1, 1973-2011. The
cases were matched with 5 controls per patient for calendar year and sex, and a case-control study was performed by
linkage between several national registers.
RESULTS
The study showed a total live-birth prevalence of 2.98:100 000 with a male-to-female ratio of 1.14:1. We found a
higher risk among mothers with Nordic origin of birth, higher age, extremes of BMI and smoking. Neither maternal
diasease, parity nor assisted conception were identified as risk factors for bladder exstrophy. Delivery mode, birth
weight, gestational week at birth, Apgar and survival rate did not differ from controls. Associated malformations were
present in 7.5% of the cases, including anal atresia, esophageal atresia, CDH, cardiac malformations, cleft palate and
malformations of extremities. 41% underwent surgery for congenital inguinal hernia and 11% of the boys had surgery
for retentio testis.
CONCLUSIONS
This national register study on bladder exstrophy demonstrated a prevalence of 2.98:100 000 live-births with an almost
equal sex ratio. The majority of the cases were isolated without major associated malformations. Nordic maternal origin
of birth, higher age, extremes of BMI and smoking were associated with higher risk.