Background: Prune belly syndrome (PBS) is a multisystem disease characterized by absent or deficient abdominal musculature with accompanying lax skin, urinary tract abnormalities, and cryptorchidism. Previous studies have estimated a birth prevalence of 1 in 35,000-50,000 live births.
Objective: We set out to clarify the epidemiology and early hospital admissions of PBS in Finland through a population-based register study. Further, possible maternal risk factors for PBS were analyzed in a case-control setting.
Study Design: The Finnish Register of Congenital Malformations was linked to the Care Register for Health Care, a population-based hospital admission data for PBS patients. Additionally, five matched controls were identified in the Birth Register and maternal risk factors of PBS were studied utilizing data from the Drugs and Pregnancy database.
Results: We identified 31 cases of PBS during 1993-2015, 15 of which were live born and 16 elective terminations. The total prevalence was 1 in 44,000 births. Three patients (20%) died during infancy. On average, PBS-patients had 3.2 admissions and 10.6 hospital days per year in Finland during the study period years 1998-2015, 35- and 27-fold compared to children in Finland in general. Multiple miscarriages were significantly associated to PBS in maternal risk factor analyses.
Discussion: The burden of disease is significant in PBS, demonstrated as a high infant mortality rate (20%), multiple hospital admissions, and inpatient care in days. The available variables are limited as a register-based study.
Conclusion: We present data on contemporary epidemiology in a population-based study and show that the total prevalence of PBS is 1 in 44,000 in Finland. PBS entails a significant disease burden with admissions and hospital days over 35- and 27-fold compared to the general pediatric population, further aggravated by an infant mortality rate of 20%.
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